NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (10 submissions)
Last evaluated:: Oct 18, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000019258.22

Allele description [Variation Report for NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)]

NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)

Other names:

943ins10-ter275

HGVS:

NC_000017.10:g.41246731_41246740dupGCTCCACATG
NC_000017.11:g.43094714_43094723dup
NG_005905.2:g.123268_123277dup
NM_001407571.1:c.602_611dup
NM_001407581.1:c.815_824dup
NM_001407582.1:c.815_824dup
NM_001407583.1:c.815_824dup
NM_001407585.1:c.815_824dup
NM_001407587.1:c.812_821dup
NM_001407590.1:c.812_821dup
NM_001407591.1:c.812_821dup
NM_001407593.1:c.815_824dup
NM_001407594.1:c.815_824dup
NM_001407596.1:c.815_824dup
NM_001407597.1:c.815_824dup
NM_001407598.1:c.815_824dup
NM_001407602.1:c.815_824dup
NM_001407603.1:c.815_824dup
NM_001407605.1:c.815_824dup
NM_001407610.1:c.812_821dup
NM_001407611.1:c.812_821dup
NM_001407612.1:c.812_821dup
NM_001407613.1:c.812_821dup
NM_001407614.1:c.812_821dup
NM_001407615.1:c.812_821dup
NM_001407616.1:c.815_824dup
NM_001407617.1:c.815_824dup
NM_001407618.1:c.815_824dup
NM_001407619.1:c.815_824dup
NM_001407620.1:c.815_824dup
NM_001407621.1:c.815_824dup
NM_001407622.1:c.815_824dup
NM_001407623.1:c.815_824dup
NM_001407624.1:c.815_824dup
NM_001407625.1:c.815_824dup
NM_001407626.1:c.815_824dup
NM_001407627.1:c.812_821dup
NM_001407628.1:c.812_821dup
NM_001407629.1:c.812_821dup
NM_001407630.1:c.812_821dup
NM_001407631.1:c.812_821dup
NM_001407632.1:c.812_821dup
NM_001407633.1:c.812_821dup
NM_001407634.1:c.812_821dup
NM_001407635.1:c.812_821dup
NM_001407636.1:c.812_821dup
NM_001407637.1:c.812_821dup
NM_001407638.1:c.812_821dup
NM_001407639.1:c.815_824dup
NM_001407640.1:c.815_824dup
NM_001407641.1:c.815_824dup
NM_001407642.1:c.815_824dup
NM_001407644.1:c.812_821dup
NM_001407645.1:c.812_821dup
NM_001407646.1:c.806_815dup
NM_001407647.1:c.806_815dup
NM_001407648.1:c.692_701dup
NM_001407649.1:c.689_698dup
NM_001407652.1:c.815_824dup
NM_001407653.1:c.737_746dup
NM_001407654.1:c.737_746dup
NM_001407655.1:c.737_746dup
NM_001407656.1:c.737_746dup
NM_001407657.1:c.737_746dup
NM_001407658.1:c.737_746dup
NM_001407659.1:c.734_743dup
NM_001407660.1:c.734_743dup
NM_001407661.1:c.734_743dup
NM_001407662.1:c.734_743dup
NM_001407663.1:c.737_746dup
NM_001407664.1:c.692_701dup
NM_001407665.1:c.692_701dup
NM_001407666.1:c.692_701dup
NM_001407667.1:c.692_701dup
NM_001407668.1:c.692_701dup
NM_001407669.1:c.692_701dup
NM_001407670.1:c.689_698dup
NM_001407671.1:c.689_698dup
NM_001407672.1:c.689_698dup
NM_001407673.1:c.689_698dup
NM_001407674.1:c.692_701dup
NM_001407675.1:c.692_701dup
NM_001407676.1:c.692_701dup
NM_001407677.1:c.692_701dup
NM_001407678.1:c.692_701dup
NM_001407679.1:c.692_701dup
NM_001407680.1:c.692_701dup
NM_001407681.1:c.692_701dup
NM_001407682.1:c.692_701dup
NM_001407683.1:c.692_701dup
NM_001407684.1:c.815_824dup
NM_001407685.1:c.689_698dup
NM_001407686.1:c.689_698dup
NM_001407687.1:c.689_698dup
NM_001407688.1:c.689_698dup
NM_001407689.1:c.689_698dup
NM_001407690.1:c.689_698dup
NM_001407691.1:c.689_698dup
NM_001407692.1:c.674_683dup
NM_001407694.1:c.674_683dup
NM_001407695.1:c.674_683dup
NM_001407696.1:c.674_683dup
NM_001407697.1:c.674_683dup
NM_001407698.1:c.674_683dup
NM_001407724.1:c.674_683dup
NM_001407725.1:c.674_683dup
NM_001407726.1:c.674_683dup
NM_001407727.1:c.674_683dup
NM_001407728.1:c.674_683dup
NM_001407729.1:c.674_683dup
NM_001407730.1:c.674_683dup
NM_001407731.1:c.674_683dup
NM_001407732.1:c.674_683dup
NM_001407733.1:c.674_683dup
NM_001407734.1:c.674_683dup
NM_001407735.1:c.674_683dup
NM_001407736.1:c.674_683dup
NM_001407737.1:c.674_683dup
NM_001407738.1:c.674_683dup
NM_001407739.1:c.674_683dup
NM_001407740.1:c.671_680dup
NM_001407741.1:c.671_680dup
NM_001407742.1:c.671_680dup
NM_001407743.1:c.671_680dup
NM_001407744.1:c.671_680dup
NM_001407745.1:c.671_680dup
NM_001407746.1:c.671_680dup
NM_001407747.1:c.671_680dup
NM_001407748.1:c.671_680dup
NM_001407749.1:c.671_680dup
NM_001407750.1:c.674_683dup
NM_001407751.1:c.674_683dup
NM_001407752.1:c.674_683dup
NM_001407838.1:c.671_680dup
NM_001407839.1:c.671_680dup
NM_001407841.1:c.671_680dup
NM_001407842.1:c.671_680dup
NM_001407843.1:c.671_680dup
NM_001407844.1:c.671_680dup
NM_001407845.1:c.671_680dup
NM_001407846.1:c.671_680dup
NM_001407847.1:c.671_680dup
NM_001407848.1:c.671_680dup
NM_001407849.1:c.671_680dup
NM_001407850.1:c.674_683dup
NM_001407851.1:c.674_683dup
NM_001407852.1:c.674_683dup
NM_001407853.1:c.602_611dup
NM_001407854.1:c.815_824dup
NM_001407858.1:c.815_824dup
NM_001407859.1:c.815_824dup
NM_001407860.1:c.812_821dup
NM_001407861.1:c.812_821dup
NM_001407862.1:c.614_623dup
NM_001407863.1:c.692_701dup
NM_001407874.1:c.611_620dup
NM_001407875.1:c.611_620dup
NM_001407879.1:c.605_614dup
NM_001407881.1:c.605_614dup
NM_001407882.1:c.605_614dup
NM_001407884.1:c.605_614dup
NM_001407885.1:c.605_614dup
NM_001407886.1:c.605_614dup
NM_001407887.1:c.605_614dup
NM_001407889.1:c.605_614dup
NM_001407894.1:c.602_611dup
NM_001407895.1:c.602_611dup
NM_001407896.1:c.602_611dup
NM_001407897.1:c.602_611dup
NM_001407898.1:c.602_611dup
NM_001407899.1:c.602_611dup
NM_001407900.1:c.605_614dup
NM_001407902.1:c.605_614dup
NM_001407904.1:c.605_614dup
NM_001407906.1:c.605_614dup
NM_001407907.1:c.605_614dup
NM_001407908.1:c.605_614dup
NM_001407909.1:c.605_614dup
NM_001407910.1:c.605_614dup
NM_001407915.1:c.602_611dup
NM_001407916.1:c.602_611dup
NM_001407917.1:c.602_611dup
NM_001407918.1:c.602_611dup
NM_001407919.1:c.692_701dup
NM_001407920.1:c.551_560dup
NM_001407921.1:c.551_560dup
NM_001407922.1:c.551_560dup
NM_001407923.1:c.551_560dup
NM_001407924.1:c.551_560dup
NM_001407925.1:c.551_560dup
NM_001407926.1:c.551_560dup
NM_001407927.1:c.551_560dup
NM_001407928.1:c.551_560dup
NM_001407929.1:c.551_560dup
NM_001407930.1:c.548_557dup
NM_001407931.1:c.548_557dup
NM_001407932.1:c.548_557dup
NM_001407933.1:c.551_560dup
NM_001407934.1:c.548_557dup
NM_001407935.1:c.551_560dup
NM_001407936.1:c.548_557dup
NM_001407937.1:c.692_701dup
NM_001407938.1:c.692_701dup
NM_001407939.1:c.692_701dup
NM_001407940.1:c.689_698dup
NM_001407941.1:c.689_698dup
NM_001407942.1:c.674_683dup
NM_001407943.1:c.671_680dup
NM_001407944.1:c.674_683dup
NM_001407945.1:c.674_683dup
NM_001407946.1:c.482_491dup
NM_001407947.1:c.482_491dup
NM_001407948.1:c.482_491dup
NM_001407949.1:c.482_491dup
NM_001407950.1:c.482_491dup
NM_001407951.1:c.482_491dup
NM_001407952.1:c.482_491dup
NM_001407953.1:c.482_491dup
NM_001407954.1:c.479_488dup
NM_001407955.1:c.479_488dup
NM_001407956.1:c.479_488dup
NM_001407957.1:c.482_491dup
NM_001407958.1:c.479_488dup
NM_001407959.1:c.434_443dup
NM_001407960.1:c.434_443dup
NM_001407962.1:c.431_440dup
NM_001407963.1:c.434_443dup
NM_001407964.1:c.671_680dup
NM_001407965.1:c.311_320dup
NM_001407966.1:c.-74_-65dup
NM_001407967.1:c.-74_-65dup
NM_001407968.1:c.787+28_787+37dup
NM_001407969.1:c.787+28_787+37dup
NM_001407970.1:c.787+28_787+37dup
NM_001407971.1:c.787+28_787+37dup
NM_001407972.1:c.784+28_784+37dup
NM_001407973.1:c.787+28_787+37dup
NM_001407974.1:c.787+28_787+37dup
NM_001407975.1:c.787+28_787+37dup
NM_001407976.1:c.787+28_787+37dup
NM_001407977.1:c.787+28_787+37dup
NM_001407978.1:c.787+28_787+37dup
NM_001407979.1:c.787+28_787+37dup
NM_001407980.1:c.787+28_787+37dup
NM_001407981.1:c.787+28_787+37dup
NM_001407982.1:c.787+28_787+37dup
NM_001407983.1:c.787+28_787+37dup
NM_001407984.1:c.784+28_784+37dup
NM_001407985.1:c.784+28_784+37dup
NM_001407986.1:c.784+28_784+37dup
NM_001407990.1:c.787+28_787+37dup
NM_001407991.1:c.784+28_784+37dup
NM_001407992.1:c.784+28_784+37dup
NM_001407993.1:c.787+28_787+37dup
NM_001408392.1:c.784+28_784+37dup
NM_001408396.1:c.784+28_784+37dup
NM_001408397.1:c.784+28_784+37dup
NM_001408398.1:c.784+28_784+37dup
NM_001408399.1:c.784+28_784+37dup
NM_001408400.1:c.784+28_784+37dup
NM_001408401.1:c.784+28_784+37dup
NM_001408402.1:c.784+28_784+37dup
NM_001408403.1:c.787+28_787+37dup
NM_001408404.1:c.787+28_787+37dup
NM_001408406.1:c.790+25_790+34dup
NM_001408407.1:c.784+28_784+37dup
NM_001408408.1:c.778+28_778+37dup
NM_001408409.1:c.709+28_709+37dup
NM_001408410.1:c.646+28_646+37dup
NM_001408411.1:c.709+28_709+37dup
NM_001408412.1:c.709+28_709+37dup
NM_001408413.1:c.706+28_706+37dup
NM_001408414.1:c.709+28_709+37dup
NM_001408415.1:c.709+28_709+37dup
NM_001408416.1:c.706+28_706+37dup
NM_001408418.1:c.670+1130_670+1139dup
NM_001408419.1:c.670+1130_670+1139dup
NM_001408420.1:c.670+1130_670+1139dup
NM_001408421.1:c.667+1130_667+1139dup
NM_001408422.1:c.670+1130_670+1139dup
NM_001408423.1:c.670+1130_670+1139dup
NM_001408424.1:c.667+1130_667+1139dup
NM_001408425.1:c.664+28_664+37dup
NM_001408426.1:c.664+28_664+37dup
NM_001408427.1:c.664+28_664+37dup
NM_001408428.1:c.664+28_664+37dup
NM_001408429.1:c.664+28_664+37dup
NM_001408430.1:c.664+28_664+37dup
NM_001408431.1:c.667+1130_667+1139dup
NM_001408432.1:c.661+28_661+37dup
NM_001408433.1:c.661+28_661+37dup
NM_001408434.1:c.661+28_661+37dup
NM_001408435.1:c.661+28_661+37dup
NM_001408436.1:c.664+28_664+37dup
NM_001408437.1:c.664+28_664+37dup
NM_001408438.1:c.664+28_664+37dup
NM_001408439.1:c.664+28_664+37dup
NM_001408440.1:c.664+28_664+37dup
NM_001408441.1:c.664+28_664+37dup
NM_001408442.1:c.664+28_664+37dup
NM_001408443.1:c.664+28_664+37dup
NM_001408444.1:c.664+28_664+37dup
NM_001408445.1:c.661+28_661+37dup
NM_001408446.1:c.661+28_661+37dup
NM_001408447.1:c.661+28_661+37dup
NM_001408448.1:c.661+28_661+37dup
NM_001408450.1:c.661+28_661+37dup
NM_001408451.1:c.652+28_652+37dup
NM_001408452.1:c.646+28_646+37dup
NM_001408453.1:c.646+28_646+37dup
NM_001408454.1:c.646+28_646+37dup
NM_001408455.1:c.646+28_646+37dup
NM_001408456.1:c.646+28_646+37dup
NM_001408457.1:c.646+28_646+37dup
NM_001408458.1:c.646+28_646+37dup
NM_001408459.1:c.646+28_646+37dup
NM_001408460.1:c.646+28_646+37dup
NM_001408461.1:c.646+28_646+37dup
NM_001408462.1:c.643+28_643+37dup
NM_001408463.1:c.643+28_643+37dup
NM_001408464.1:c.643+28_643+37dup
NM_001408465.1:c.643+28_643+37dup
NM_001408466.1:c.646+28_646+37dup
NM_001408467.1:c.646+28_646+37dup
NM_001408468.1:c.643+28_643+37dup
NM_001408469.1:c.646+28_646+37dup
NM_001408470.1:c.643+28_643+37dup
NM_001408472.1:c.787+28_787+37dup
NM_001408473.1:c.784+28_784+37dup
NM_001408474.1:c.586+28_586+37dup
NM_001408475.1:c.583+28_583+37dup
NM_001408476.1:c.586+28_586+37dup
NM_001408478.1:c.577+28_577+37dup
NM_001408479.1:c.577+28_577+37dup
NM_001408480.1:c.577+28_577+37dup
NM_001408481.1:c.577+28_577+37dup
NM_001408482.1:c.577+28_577+37dup
NM_001408483.1:c.577+28_577+37dup
NM_001408484.1:c.577+28_577+37dup
NM_001408485.1:c.577+28_577+37dup
NM_001408489.1:c.577+28_577+37dup
NM_001408490.1:c.574+28_574+37dup
NM_001408491.1:c.574+28_574+37dup
NM_001408492.1:c.577+28_577+37dup
NM_001408493.1:c.574+28_574+37dup
NM_001408494.1:c.548-3684_548-3675dup
NM_001408495.1:c.545-3684_545-3675dup
NM_001408496.1:c.523+28_523+37dup
NM_001408497.1:c.523+28_523+37dup
NM_001408498.1:c.523+28_523+37dup
NM_001408499.1:c.523+28_523+37dup
NM_001408500.1:c.523+28_523+37dup
NM_001408501.1:c.523+28_523+37dup
NM_001408502.1:c.454+28_454+37dup
NM_001408503.1:c.520+28_520+37dup
NM_001408504.1:c.520+28_520+37dup
NM_001408505.1:c.520+28_520+37dup
NM_001408506.1:c.460+1130_460+1139dup
NM_001408507.1:c.460+1130_460+1139dup
NM_001408508.1:c.451+28_451+37dup
NM_001408509.1:c.451+28_451+37dup
NM_001408510.1:c.406+28_406+37dup
NM_001408511.1:c.404-3684_404-3675dup
NM_001408512.1:c.283+28_283+37dup
NM_001408513.1:c.577+28_577+37dup
NM_001408514.1:c.577+28_577+37dup
NM_007294.4:c.815_824dupMANE SELECT
NM_007294.4:c.815_824dupAGCCATGTGG
NM_007297.4:c.674_683dup
NM_007298.4:c.787+28_787+37dup
NM_007299.4:c.787+28_787+37dup
NM_007300.4:c.815_824dup
NP_001394500.1:p.Thr205fs
NP_001394510.1:p.Thr276fs
NP_001394511.1:p.Thr276fs
NP_001394512.1:p.Thr276fs
NP_001394514.1:p.Thr276fs
NP_001394516.1:p.Thr275fs
NP_001394519.1:p.Thr275fs
NP_001394520.1:p.Thr275fs
NP_001394522.1:p.Thr276fs
NP_001394523.1:p.Thr276fs
NP_001394525.1:p.Thr276fs
NP_001394526.1:p.Thr276fs
NP_001394527.1:p.Thr276fs
NP_001394531.1:p.Thr276fs
NP_001394532.1:p.Thr276fs
NP_001394534.1:p.Thr276fs
NP_001394539.1:p.Thr275fs
NP_001394540.1:p.Thr275fs
NP_001394541.1:p.Thr275fs
NP_001394542.1:p.Thr275fs
NP_001394543.1:p.Thr275fs
NP_001394544.1:p.Thr275fs
NP_001394545.1:p.Thr276fs
NP_001394546.1:p.Thr276fs
NP_001394547.1:p.Thr276fs
NP_001394548.1:p.Thr276fs
NP_001394549.1:p.Thr276fs
NP_001394550.1:p.Thr276fs
NP_001394551.1:p.Thr276fs
NP_001394552.1:p.Thr276fs
NP_001394553.1:p.Thr276fs
NP_001394554.1:p.Thr276fs
NP_001394555.1:p.Thr276fs
NP_001394556.1:p.Thr275fs
NP_001394557.1:p.Thr275fs
NP_001394558.1:p.Thr275fs
NP_001394559.1:p.Thr275fs
NP_001394560.1:p.Thr275fs
NP_001394561.1:p.Thr275fs
NP_001394562.1:p.Thr275fs
NP_001394563.1:p.Thr275fs
NP_001394564.1:p.Thr275fs
NP_001394565.1:p.Thr275fs
NP_001394566.1:p.Thr275fs
NP_001394567.1:p.Thr275fs
NP_001394568.1:p.Thr276fs
NP_001394569.1:p.Thr276fs
NP_001394570.1:p.Thr276fs
NP_001394571.1:p.Thr276fs
NP_001394573.1:p.Thr275fs
NP_001394574.1:p.Thr275fs
NP_001394575.1:p.Thr273fs
NP_001394576.1:p.Thr273fs
NP_001394577.1:p.Thr235fs
NP_001394578.1:p.Thr234fs
NP_001394581.1:p.Thr276fs
NP_001394582.1:p.Thr250fs
NP_001394583.1:p.Thr250fs
NP_001394584.1:p.Thr250fs
NP_001394585.1:p.Thr250fs
NP_001394586.1:p.Thr250fs
NP_001394587.1:p.Thr250fs
NP_001394588.1:p.Thr249fs
NP_001394589.1:p.Thr249fs
NP_001394590.1:p.Thr249fs
NP_001394591.1:p.Thr249fs
NP_001394592.1:p.Thr250fs
NP_001394593.1:p.Thr235fs
NP_001394594.1:p.Thr235fs
NP_001394595.1:p.Thr235fs
NP_001394596.1:p.Thr235fs
NP_001394597.1:p.Thr235fs
NP_001394598.1:p.Thr235fs
NP_001394599.1:p.Thr234fs
NP_001394600.1:p.Thr234fs
NP_001394601.1:p.Thr234fs
NP_001394602.1:p.Thr234fs
NP_001394603.1:p.Thr235fs
NP_001394604.1:p.Thr235fs
NP_001394605.1:p.Thr235fs
NP_001394606.1:p.Thr235fs
NP_001394607.1:p.Thr235fs
NP_001394608.1:p.Thr235fs
NP_001394609.1:p.Thr235fs
NP_001394610.1:p.Thr235fs
NP_001394611.1:p.Thr235fs
NP_001394612.1:p.Thr235fs
NP_001394613.1:p.Thr276fs
NP_001394614.1:p.Thr234fs
NP_001394615.1:p.Thr234fs
NP_001394616.1:p.Thr234fs
NP_001394617.1:p.Thr234fs
NP_001394618.1:p.Thr234fs
NP_001394619.1:p.Thr234fs
NP_001394620.1:p.Thr234fs
NP_001394621.1:p.Thr229fs
NP_001394623.1:p.Thr229fs
NP_001394624.1:p.Thr229fs
NP_001394625.1:p.Thr229fs
NP_001394626.1:p.Thr229fs
NP_001394627.1:p.Thr229fs
NP_001394653.1:p.Thr229fs
NP_001394654.1:p.Thr229fs
NP_001394655.1:p.Thr229fs
NP_001394656.1:p.Thr229fs
NP_001394657.1:p.Thr229fs
NP_001394658.1:p.Thr229fs
NP_001394659.1:p.Thr229fs
NP_001394660.1:p.Thr229fs
NP_001394661.1:p.Thr229fs
NP_001394662.1:p.Thr229fs
NP_001394663.1:p.Thr229fs
NP_001394664.1:p.Thr229fs
NP_001394665.1:p.Thr229fs
NP_001394666.1:p.Thr229fs
NP_001394667.1:p.Thr229fs
NP_001394668.1:p.Thr229fs
NP_001394669.1:p.Thr228fs
NP_001394670.1:p.Thr228fs
NP_001394671.1:p.Thr228fs
NP_001394672.1:p.Thr228fs
NP_001394673.1:p.Thr228fs
NP_001394674.1:p.Thr228fs
NP_001394675.1:p.Thr228fs
NP_001394676.1:p.Thr228fs
NP_001394677.1:p.Thr228fs
NP_001394678.1:p.Thr228fs
NP_001394679.1:p.Thr229fs
NP_001394680.1:p.Thr229fs
NP_001394681.1:p.Thr229fs
NP_001394767.1:p.Thr228fs
NP_001394768.1:p.Thr228fs
NP_001394770.1:p.Thr228fs
NP_001394771.1:p.Thr228fs
NP_001394772.1:p.Thr228fs
NP_001394773.1:p.Thr228fs
NP_001394774.1:p.Thr228fs
NP_001394775.1:p.Thr228fs
NP_001394776.1:p.Thr228fs
NP_001394777.1:p.Thr228fs
NP_001394778.1:p.Thr228fs
NP_001394779.1:p.Thr229fs
NP_001394780.1:p.Thr229fs
NP_001394781.1:p.Thr229fs
NP_001394782.1:p.Thr205fs
NP_001394783.1:p.Thr276fs
NP_001394787.1:p.Thr276fs
NP_001394788.1:p.Thr276fs
NP_001394789.1:p.Thr275fs
NP_001394790.1:p.Thr275fs
NP_001394791.1:p.Thr209fs
NP_001394792.1:p.Thr235fs
NP_001394803.1:p.Thr208fs
NP_001394804.1:p.Thr208fs
NP_001394808.1:p.Thr206fs
NP_001394810.1:p.Thr206fs
NP_001394811.1:p.Thr206fs
NP_001394813.1:p.Thr206fs
NP_001394814.1:p.Thr206fs
NP_001394815.1:p.Thr206fs
NP_001394816.1:p.Thr206fs
NP_001394818.1:p.Thr206fs
NP_001394823.1:p.Thr205fs
NP_001394824.1:p.Thr205fs
NP_001394825.1:p.Thr205fs
NP_001394826.1:p.Thr205fs
NP_001394827.1:p.Thr205fs
NP_001394828.1:p.Thr205fs
NP_001394829.1:p.Thr206fs
NP_001394831.1:p.Thr206fs
NP_001394833.1:p.Thr206fs
NP_001394835.1:p.Thr206fs
NP_001394836.1:p.Thr206fs
NP_001394837.1:p.Thr206fs
NP_001394838.1:p.Thr206fs
NP_001394839.1:p.Thr206fs
NP_001394844.1:p.Thr205fs
NP_001394845.1:p.Thr205fs
NP_001394846.1:p.Thr205fs
NP_001394847.1:p.Thr205fs
NP_001394848.1:p.Thr235fs
NP_001394849.1:p.Thr188fs
NP_001394850.1:p.Thr188fs
NP_001394851.1:p.Thr188fs
NP_001394852.1:p.Thr188fs
NP_001394853.1:p.Thr188fs
NP_001394854.1:p.Thr188fs
NP_001394855.1:p.Thr188fs
NP_001394856.1:p.Thr188fs
NP_001394857.1:p.Thr188fs
NP_001394858.1:p.Thr188fs
NP_001394859.1:p.Thr187fs
NP_001394860.1:p.Thr187fs
NP_001394861.1:p.Thr187fs
NP_001394862.1:p.Thr188fs
NP_001394863.1:p.Thr187fs
NP_001394864.1:p.Thr188fs
NP_001394865.1:p.Thr187fs
NP_001394866.1:p.Thr235fs
NP_001394867.1:p.Thr235fs
NP_001394868.1:p.Thr235fs
NP_001394869.1:p.Thr234fs
NP_001394870.1:p.Thr234fs
NP_001394871.1:p.Thr229fs
NP_001394872.1:p.Thr228fs
NP_001394873.1:p.Thr229fs
NP_001394874.1:p.Thr229fs
NP_001394875.1:p.Thr165fs
NP_001394876.1:p.Thr165fs
NP_001394877.1:p.Thr165fs
NP_001394878.1:p.Thr165fs
NP_001394879.1:p.Thr165fs
NP_001394880.1:p.Thr165fs
NP_001394881.1:p.Thr165fs
NP_001394882.1:p.Thr165fs
NP_001394883.1:p.Thr164fs
NP_001394884.1:p.Thr164fs
NP_001394885.1:p.Thr164fs
NP_001394886.1:p.Thr165fs
NP_001394887.1:p.Thr164fs
NP_001394888.1:p.Thr149fs
NP_001394889.1:p.Thr149fs
NP_001394891.1:p.Thr148fs
NP_001394892.1:p.Thr149fs
NP_001394893.1:p.Thr228fs
NP_001394894.1:p.Thr108fs
NP_009225.1:p.Thr276Alafs
NP_009225.1:p.Thr276fs
NP_009228.2:p.Thr229fs
NP_009231.2:p.Thr276fs
LRG_292t1:c.808_817dup
LRG_292:g.123268_123277dup
LRG_292p1:p.Thr276Alafs
NC_000017.10:g.41246723_41246724insCCACATGGCT
NC_000017.10:g.41246731_41246740dup
NC_000017.10:g.41246731_41246740dup
NC_000017.10:g.41246731_41246740dupGCTCCACATG
NC_000017.11:g.43094706_43094707insCCACATGGCT
NM_007294.3:c.808_817dup
NM_007294.3:c.815_824dupAGCCATGTGG
NM_007294.4:c.815_824dup
NR_027676.1:n.944_953dup
p.T276Afs*14
p.T276AfsX14
p.Thr276Alafs*14
p.Thr276fs

Protein change:

T108fs

Links:

OMIM: 113705.0029; dbSNP: rs387906563

NCBI 1000 Genomes Browser:

rs387906563

Molecular consequence:

NM_001407966.1:c.-74_-65dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407967.1:c.-74_-65dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407571.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.806_815dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.806_815dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.737_746dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.737_746dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.737_746dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.737_746dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.737_746dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.737_746dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.734_743dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.734_743dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.734_743dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.734_743dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.737_746dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.812_821dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.614_623dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.611_620dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.611_620dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.605_614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.602_611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.548_557dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.548_557dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.548_557dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.548_557dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.551_560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.548_557dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.692_701dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.689_698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.479_488dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.479_488dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.479_488dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.482_491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.479_488dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.434_443dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.434_443dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.431_440dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.434_443dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.671_680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.311_320dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.674_683dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.815_824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+25_790+34dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+28_778+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+28_709+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+28_709+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+28_709+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+28_706+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+28_709+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+28_709+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+28_706+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+1130_670+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+1130_670+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+1130_670+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+1130_667+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+1130_670+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+1130_670+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+1130_667+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+1130_667+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+28_664+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+28_661+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+28_652+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+28_643+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+28_643+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+28_643+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+28_643+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+28_643+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+28_646+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+28_643+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+28_784+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+28_586+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+28_583+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+28_586+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+28_574+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+28_574+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+28_574+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3684_548-3675dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3684_545-3675dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+28_523+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+28_523+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+28_523+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+28_523+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+28_523+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+28_523+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+28_454+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+28_520+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+28_520+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+28_520+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+1130_460+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+1130_460+1139dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+28_451+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+28_451+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+28_406+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3684_404-3675dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+28_283+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+28_577+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+28_787+37dup - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039546	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000263346	Centro de Genética y Biología Molecular, Universidad de San Martín de Porres - Mutational analysis of BRCA1 and BRCA2 genes in peruvian families with hereditary breast and ovarian cancer	no assertion criteria provided	Pathogenic (Mar 9, 2015)	not applicable	research
SCV000323916	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Oct 18, 2016)	germline	curation	Citation Link,
SCV000326435	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV000577918	Genologica Medica See additional submitters Servicio Andaluz de Salud, Hospital Universitario Virgen de la Victoria	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000677715	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Pathogenic (Mar 18, 2015)	unknown	clinical testing	PubMed (9) [See all records that cite these PMIDs] 22006311, 12491487, 11250694, 15533909, 9150149, 10480351, 10417303, 20838878, 19241424 Citation Link,
SCV000839904	Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 21, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002512517	Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 6, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004212738	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 20, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004244145	BRCAlab, Lund University	no assertion criteria provided	Pathogenic (Mar 2, 2020)	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	53	not provided	not provided	not provided	clinical testing, curation
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
Causasians	germline	yes	not provided	1	not provided	not provided	yes	clinical testing

Citations

PubMed

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, Roeb W, Agnew KJ, Stray SM, Wickramanayake A, Norquist B, Pennington KP, Garcia RL, King MC, Swisher EM.

Proc Natl Acad Sci U S A. 2011 Nov 1;108(44):18032-7. doi: 10.1073/pnas.1115052108. Epub 2011 Oct 17.

PubMed [citation]

PMID:: 22006311
PMCID:: PMC3207658

Breast cancer genetics in African Americans.

Olopade OI, Fackenthal JD, Dunston G, Tainsky MA, Collins F, Whitfield-Broome C.

Cancer. 2003 Jan 1;97(1 Suppl):236-45. Review.

PubMed [citation]

PMID:: 12491487

See all PubMed Citations (10)

Details of each submission

From OMIM, SCV000039546.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Mefford et al. (1999) suggested that a 10-bp insertion at nucleotide 943 of the BRCA1 gene represents a founder mutation of African origin in patients with breast-ovarian cancer (604370).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Centro de Genética y Biología Molecular, Universidad de San Martín de Porres - Mutational analysis of BRCA1 and BRCA2 genes in peruvian families with hereditary breast and ovarian cancer, SCV000263346.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

Description

Pathogenic mutation

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not applicable	not applicable	not provided	Blood	not provided		not provided	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000323916.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Variant allele predicted to encode a truncated non-functional protein.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326435.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	53	not provided

From Genologica Medica, SCV000577918.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Causasians	not provided	not provided	yes	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	Blood	not provided		not provided	not provided	1	not provided

From Counsyl, SCV000677715.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine, SCV000839904.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The c.815_824 frameshift change in BRCA1 has been reported in multiple unrelated patients with breast, ovarian or prostate cancer [PMID 9150149, 10417303, 22006311, 15533909]. This variant is classified as pathogenic. It is recommended that the zygosity (heterozygous vs. mosaic) of this change be confirmed by Sanger sequencing as NGS variant calling may lead to skewed allele fractions for an indel of this size.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512517.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

ACMG classification criteria: PVS1 very strong, PS4 strong, PM2 moderate

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004212738.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From BRCAlab, Lund University, SCV004244145.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

Relating variation to medicine