NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Oct 2, 2015
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000111844.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs)]

NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs)

Other names:

2524delTG; 2520delTG

HGVS:

NC_000017.11:g.43093125CA[2]
NG_005905.2:g.124854TG[2]
NM_001407571.1:c.2192_2193del
NM_001407581.1:c.2405_2406del
NM_001407582.1:c.2405_2406del
NM_001407583.1:c.2405_2406del
NM_001407585.1:c.2405_2406del
NM_001407587.1:c.2402_2403del
NM_001407590.1:c.2402_2403del
NM_001407591.1:c.2402_2403del
NM_001407593.1:c.2405_2406del
NM_001407594.1:c.2405_2406del
NM_001407596.1:c.2405_2406del
NM_001407597.1:c.2405_2406del
NM_001407598.1:c.2405_2406del
NM_001407602.1:c.2405_2406del
NM_001407603.1:c.2405_2406del
NM_001407605.1:c.2405_2406del
NM_001407610.1:c.2402_2403del
NM_001407611.1:c.2402_2403del
NM_001407612.1:c.2402_2403del
NM_001407613.1:c.2402_2403del
NM_001407614.1:c.2402_2403del
NM_001407615.1:c.2402_2403del
NM_001407616.1:c.2405_2406del
NM_001407617.1:c.2405_2406del
NM_001407618.1:c.2405_2406del
NM_001407619.1:c.2405_2406del
NM_001407620.1:c.2405_2406del
NM_001407621.1:c.2405_2406del
NM_001407622.1:c.2405_2406del
NM_001407623.1:c.2405_2406del
NM_001407624.1:c.2405_2406del
NM_001407625.1:c.2405_2406del
NM_001407626.1:c.2405_2406del
NM_001407627.1:c.2402_2403del
NM_001407628.1:c.2402_2403del
NM_001407629.1:c.2402_2403del
NM_001407630.1:c.2402_2403del
NM_001407631.1:c.2402_2403del
NM_001407632.1:c.2402_2403del
NM_001407633.1:c.2402_2403del
NM_001407634.1:c.2402_2403del
NM_001407635.1:c.2402_2403del
NM_001407636.1:c.2402_2403del
NM_001407637.1:c.2402_2403del
NM_001407638.1:c.2402_2403del
NM_001407639.1:c.2405_2406del
NM_001407640.1:c.2405_2406del
NM_001407641.1:c.2405_2406del
NM_001407642.1:c.2405_2406del
NM_001407644.1:c.2402_2403del
NM_001407645.1:c.2402_2403del
NM_001407646.1:c.2396_2397del
NM_001407647.1:c.2396_2397del
NM_001407648.1:c.2282_2283del
NM_001407649.1:c.2279_2280del
NM_001407652.1:c.2405_2406del
NM_001407653.1:c.2327_2328del
NM_001407654.1:c.2327_2328del
NM_001407655.1:c.2327_2328del
NM_001407656.1:c.2327_2328del
NM_001407657.1:c.2327_2328del
NM_001407658.1:c.2327_2328del
NM_001407659.1:c.2324_2325del
NM_001407660.1:c.2324_2325del
NM_001407661.1:c.2324_2325del
NM_001407662.1:c.2324_2325del
NM_001407663.1:c.2327_2328del
NM_001407664.1:c.2282_2283del
NM_001407665.1:c.2282_2283del
NM_001407666.1:c.2282_2283del
NM_001407667.1:c.2282_2283del
NM_001407668.1:c.2282_2283del
NM_001407669.1:c.2282_2283del
NM_001407670.1:c.2279_2280del
NM_001407671.1:c.2279_2280del
NM_001407672.1:c.2279_2280del
NM_001407673.1:c.2279_2280del
NM_001407674.1:c.2282_2283del
NM_001407675.1:c.2282_2283del
NM_001407676.1:c.2282_2283del
NM_001407677.1:c.2282_2283del
NM_001407678.1:c.2282_2283del
NM_001407679.1:c.2282_2283del
NM_001407680.1:c.2282_2283del
NM_001407681.1:c.2282_2283del
NM_001407682.1:c.2282_2283del
NM_001407683.1:c.2282_2283del
NM_001407684.1:c.2405_2406del
NM_001407685.1:c.2279_2280del
NM_001407686.1:c.2279_2280del
NM_001407687.1:c.2279_2280del
NM_001407688.1:c.2279_2280del
NM_001407689.1:c.2279_2280del
NM_001407690.1:c.2279_2280del
NM_001407691.1:c.2279_2280del
NM_001407692.1:c.2264_2265del
NM_001407694.1:c.2264_2265del
NM_001407695.1:c.2264_2265del
NM_001407696.1:c.2264_2265del
NM_001407697.1:c.2264_2265del
NM_001407698.1:c.2264_2265del
NM_001407724.1:c.2264_2265del
NM_001407725.1:c.2264_2265del
NM_001407726.1:c.2264_2265del
NM_001407727.1:c.2264_2265del
NM_001407728.1:c.2264_2265del
NM_001407729.1:c.2264_2265del
NM_001407730.1:c.2264_2265del
NM_001407731.1:c.2264_2265del
NM_001407732.1:c.2264_2265del
NM_001407733.1:c.2264_2265del
NM_001407734.1:c.2264_2265del
NM_001407735.1:c.2264_2265del
NM_001407736.1:c.2264_2265del
NM_001407737.1:c.2264_2265del
NM_001407738.1:c.2264_2265del
NM_001407739.1:c.2264_2265del
NM_001407740.1:c.2261_2262del
NM_001407741.1:c.2261_2262del
NM_001407742.1:c.2261_2262del
NM_001407743.1:c.2261_2262del
NM_001407744.1:c.2261_2262del
NM_001407745.1:c.2261_2262del
NM_001407746.1:c.2261_2262del
NM_001407747.1:c.2261_2262del
NM_001407748.1:c.2261_2262del
NM_001407749.1:c.2261_2262del
NM_001407750.1:c.2264_2265del
NM_001407751.1:c.2264_2265del
NM_001407752.1:c.2264_2265del
NM_001407838.1:c.2261_2262del
NM_001407839.1:c.2261_2262del
NM_001407841.1:c.2261_2262del
NM_001407842.1:c.2261_2262del
NM_001407843.1:c.2261_2262del
NM_001407844.1:c.2261_2262del
NM_001407845.1:c.2261_2262del
NM_001407846.1:c.2261_2262del
NM_001407847.1:c.2261_2262del
NM_001407848.1:c.2261_2262del
NM_001407849.1:c.2261_2262del
NM_001407850.1:c.2264_2265del
NM_001407851.1:c.2264_2265del
NM_001407852.1:c.2264_2265del
NM_001407853.1:c.2192_2193del
NM_001407854.1:c.2405_2406del
NM_001407858.1:c.2405_2406del
NM_001407859.1:c.2405_2406del
NM_001407860.1:c.2402_2403del
NM_001407861.1:c.2402_2403del
NM_001407862.1:c.2204_2205del
NM_001407863.1:c.2282_2283del
NM_001407874.1:c.2201_2202del
NM_001407875.1:c.2201_2202del
NM_001407879.1:c.2195_2196del
NM_001407881.1:c.2195_2196del
NM_001407882.1:c.2195_2196del
NM_001407884.1:c.2195_2196del
NM_001407885.1:c.2195_2196del
NM_001407886.1:c.2195_2196del
NM_001407887.1:c.2195_2196del
NM_001407889.1:c.2195_2196del
NM_001407894.1:c.2192_2193del
NM_001407895.1:c.2192_2193del
NM_001407896.1:c.2192_2193del
NM_001407897.1:c.2192_2193del
NM_001407898.1:c.2192_2193del
NM_001407899.1:c.2192_2193del
NM_001407900.1:c.2195_2196del
NM_001407902.1:c.2195_2196del
NM_001407904.1:c.2195_2196del
NM_001407906.1:c.2195_2196del
NM_001407907.1:c.2195_2196del
NM_001407908.1:c.2195_2196del
NM_001407909.1:c.2195_2196del
NM_001407910.1:c.2195_2196del
NM_001407915.1:c.2192_2193del
NM_001407916.1:c.2192_2193del
NM_001407917.1:c.2192_2193del
NM_001407918.1:c.2192_2193del
NM_001407919.1:c.2282_2283del
NM_001407920.1:c.2141_2142del
NM_001407921.1:c.2141_2142del
NM_001407922.1:c.2141_2142del
NM_001407923.1:c.2141_2142del
NM_001407924.1:c.2141_2142del
NM_001407925.1:c.2141_2142del
NM_001407926.1:c.2141_2142del
NM_001407927.1:c.2141_2142del
NM_001407928.1:c.2141_2142del
NM_001407929.1:c.2141_2142del
NM_001407930.1:c.2138_2139del
NM_001407931.1:c.2138_2139del
NM_001407932.1:c.2138_2139del
NM_001407933.1:c.2141_2142del
NM_001407934.1:c.2138_2139del
NM_001407935.1:c.2141_2142del
NM_001407936.1:c.2138_2139del
NM_001407937.1:c.2282_2283del
NM_001407938.1:c.2282_2283del
NM_001407939.1:c.2282_2283del
NM_001407940.1:c.2279_2280del
NM_001407941.1:c.2279_2280del
NM_001407942.1:c.2264_2265del
NM_001407943.1:c.2261_2262del
NM_001407944.1:c.2264_2265del
NM_001407945.1:c.2264_2265del
NM_001407946.1:c.2072_2073del
NM_001407947.1:c.2072_2073del
NM_001407948.1:c.2072_2073del
NM_001407949.1:c.2072_2073del
NM_001407950.1:c.2072_2073del
NM_001407951.1:c.2072_2073del
NM_001407952.1:c.2072_2073del
NM_001407953.1:c.2072_2073del
NM_001407954.1:c.2069_2070del
NM_001407955.1:c.2069_2070del
NM_001407956.1:c.2069_2070del
NM_001407957.1:c.2072_2073del
NM_001407958.1:c.2069_2070del
NM_001407959.1:c.2024_2025del
NM_001407960.1:c.2024_2025del
NM_001407962.1:c.2021_2022del
NM_001407963.1:c.2024_2025del
NM_001407964.1:c.2261_2262del
NM_001407965.1:c.1901_1902del
NM_001407966.1:c.1517_1518del
NM_001407967.1:c.1517_1518del
NM_001407968.1:c.788-991TG[2]
NM_001407969.1:c.788-991TG[2]
NM_001407970.1:c.787+1614TG[2]
NM_001407971.1:c.787+1614TG[2]
NM_001407972.1:c.784+1614TG[2]
NM_001407973.1:c.787+1614TG[2]
NM_001407974.1:c.787+1614TG[2]
NM_001407975.1:c.787+1614TG[2]
NM_001407976.1:c.787+1614TG[2]
NM_001407977.1:c.787+1614TG[2]
NM_001407978.1:c.787+1614TG[2]
NM_001407979.1:c.787+1614TG[2]
NM_001407980.1:c.787+1614TG[2]
NM_001407981.1:c.787+1614TG[2]
NM_001407982.1:c.787+1614TG[2]
NM_001407983.1:c.787+1614TG[2]
NM_001407984.1:c.784+1614TG[2]
NM_001407985.1:c.784+1614TG[2]
NM_001407986.1:c.784+1614TG[2]
NM_001407990.1:c.787+1614TG[2]
NM_001407991.1:c.784+1614TG[2]
NM_001407992.1:c.784+1614TG[2]
NM_001407993.1:c.787+1614TG[2]
NM_001408392.1:c.784+1614TG[2]
NM_001408396.1:c.784+1614TG[2]
NM_001408397.1:c.784+1614TG[2]
NM_001408398.1:c.784+1614TG[2]
NM_001408399.1:c.784+1614TG[2]
NM_001408400.1:c.784+1614TG[2]
NM_001408401.1:c.784+1614TG[2]
NM_001408402.1:c.784+1614TG[2]
NM_001408403.1:c.787+1614TG[2]
NM_001408404.1:c.787+1614TG[2]
NM_001408406.1:c.790+1611TG[2]
NM_001408407.1:c.784+1614TG[2]
NM_001408408.1:c.778+1614TG[2]
NM_001408409.1:c.709+1614TG[2]
NM_001408410.1:c.646+1614TG[2]
NM_001408411.1:c.709+1614TG[2]
NM_001408412.1:c.709+1614TG[2]
NM_001408413.1:c.706+1614TG[2]
NM_001408414.1:c.709+1614TG[2]
NM_001408415.1:c.709+1614TG[2]
NM_001408416.1:c.706+1614TG[2]
NM_001408418.1:c.671-2098TG[2]
NM_001408419.1:c.671-2098TG[2]
NM_001408420.1:c.671-2098TG[2]
NM_001408421.1:c.668-2098TG[2]
NM_001408422.1:c.671-2098TG[2]
NM_001408423.1:c.671-2098TG[2]
NM_001408424.1:c.668-2098TG[2]
NM_001408425.1:c.664+1614TG[2]
NM_001408426.1:c.664+1614TG[2]
NM_001408427.1:c.664+1614TG[2]
NM_001408428.1:c.664+1614TG[2]
NM_001408429.1:c.664+1614TG[2]
NM_001408430.1:c.664+1614TG[2]
NM_001408431.1:c.668-2098TG[2]
NM_001408432.1:c.661+1614TG[2]
NM_001408433.1:c.661+1614TG[2]
NM_001408434.1:c.661+1614TG[2]
NM_001408435.1:c.661+1614TG[2]
NM_001408436.1:c.664+1614TG[2]
NM_001408437.1:c.664+1614TG[2]
NM_001408438.1:c.664+1614TG[2]
NM_001408439.1:c.664+1614TG[2]
NM_001408440.1:c.664+1614TG[2]
NM_001408441.1:c.664+1614TG[2]
NM_001408442.1:c.664+1614TG[2]
NM_001408443.1:c.664+1614TG[2]
NM_001408444.1:c.664+1614TG[2]
NM_001408445.1:c.661+1614TG[2]
NM_001408446.1:c.661+1614TG[2]
NM_001408447.1:c.661+1614TG[2]
NM_001408448.1:c.661+1614TG[2]
NM_001408450.1:c.661+1614TG[2]
NM_001408451.1:c.652+1614TG[2]
NM_001408452.1:c.646+1614TG[2]
NM_001408453.1:c.646+1614TG[2]
NM_001408454.1:c.646+1614TG[2]
NM_001408455.1:c.646+1614TG[2]
NM_001408456.1:c.646+1614TG[2]
NM_001408457.1:c.646+1614TG[2]
NM_001408458.1:c.646+1614TG[2]
NM_001408459.1:c.646+1614TG[2]
NM_001408460.1:c.646+1614TG[2]
NM_001408461.1:c.646+1614TG[2]
NM_001408462.1:c.643+1614TG[2]
NM_001408463.1:c.643+1614TG[2]
NM_001408464.1:c.643+1614TG[2]
NM_001408465.1:c.643+1614TG[2]
NM_001408466.1:c.646+1614TG[2]
NM_001408467.1:c.646+1614TG[2]
NM_001408468.1:c.643+1614TG[2]
NM_001408469.1:c.646+1614TG[2]
NM_001408470.1:c.643+1614TG[2]
NM_001408472.1:c.787+1614TG[2]
NM_001408473.1:c.784+1614TG[2]
NM_001408474.1:c.586+1614TG[2]
NM_001408475.1:c.583+1614TG[2]
NM_001408476.1:c.586+1614TG[2]
NM_001408478.1:c.577+1614TG[2]
NM_001408479.1:c.577+1614TG[2]
NM_001408480.1:c.577+1614TG[2]
NM_001408481.1:c.577+1614TG[2]
NM_001408482.1:c.577+1614TG[2]
NM_001408483.1:c.577+1614TG[2]
NM_001408484.1:c.577+1614TG[2]
NM_001408485.1:c.577+1614TG[2]
NM_001408489.1:c.577+1614TG[2]
NM_001408490.1:c.574+1614TG[2]
NM_001408491.1:c.574+1614TG[2]
NM_001408492.1:c.577+1614TG[2]
NM_001408493.1:c.574+1614TG[2]
NM_001408494.1:c.548-2098TG[2]
NM_001408495.1:c.545-2098TG[2]
NM_001408496.1:c.523+1614TG[2]
NM_001408497.1:c.523+1614TG[2]
NM_001408498.1:c.523+1614TG[2]
NM_001408499.1:c.523+1614TG[2]
NM_001408500.1:c.523+1614TG[2]
NM_001408501.1:c.523+1614TG[2]
NM_001408502.1:c.454+1614TG[2]
NM_001408503.1:c.520+1614TG[2]
NM_001408504.1:c.520+1614TG[2]
NM_001408505.1:c.520+1614TG[2]
NM_001408506.1:c.461-2098TG[2]
NM_001408507.1:c.461-2098TG[2]
NM_001408508.1:c.451+1614TG[2]
NM_001408509.1:c.451+1614TG[2]
NM_001408510.1:c.406+1614TG[2]
NM_001408511.1:c.404-2098TG[2]
NM_001408512.1:c.283+1614TG[2]
NM_001408513.1:c.577+1614TG[2]
NM_001408514.1:c.577+1614TG[2]
NM_007294.4:c.2405_2406delMANE SELECT
NM_007297.4:c.2264_2265del
NM_007298.4:c.787+1614TG[2]
NM_007299.4:c.787+1614TG[2]
NM_007300.4:c.2405_2406del
NP_001394500.1:p.Val731fs
NP_001394510.1:p.Val802fs
NP_001394511.1:p.Val802fs
NP_001394512.1:p.Val802fs
NP_001394514.1:p.Val802fs
NP_001394516.1:p.Val801fs
NP_001394519.1:p.Val801fs
NP_001394520.1:p.Val801fs
NP_001394522.1:p.Val802fs
NP_001394523.1:p.Val802fs
NP_001394525.1:p.Val802fs
NP_001394526.1:p.Val802fs
NP_001394527.1:p.Val802fs
NP_001394531.1:p.Val802fs
NP_001394532.1:p.Val802fs
NP_001394534.1:p.Val802fs
NP_001394539.1:p.Val801fs
NP_001394540.1:p.Val801fs
NP_001394541.1:p.Val801fs
NP_001394542.1:p.Val801fs
NP_001394543.1:p.Val801fs
NP_001394544.1:p.Val801fs
NP_001394545.1:p.Val802fs
NP_001394546.1:p.Val802fs
NP_001394547.1:p.Val802fs
NP_001394548.1:p.Val802fs
NP_001394549.1:p.Val802fs
NP_001394550.1:p.Val802fs
NP_001394551.1:p.Val802fs
NP_001394552.1:p.Val802fs
NP_001394553.1:p.Val802fs
NP_001394554.1:p.Val802fs
NP_001394555.1:p.Val802fs
NP_001394556.1:p.Val801fs
NP_001394557.1:p.Val801fs
NP_001394558.1:p.Val801fs
NP_001394559.1:p.Val801fs
NP_001394560.1:p.Val801fs
NP_001394561.1:p.Val801fs
NP_001394562.1:p.Val801fs
NP_001394563.1:p.Val801fs
NP_001394564.1:p.Val801fs
NP_001394565.1:p.Val801fs
NP_001394566.1:p.Val801fs
NP_001394567.1:p.Val801fs
NP_001394568.1:p.Val802fs
NP_001394569.1:p.Val802fs
NP_001394570.1:p.Val802fs
NP_001394571.1:p.Val802fs
NP_001394573.1:p.Val801fs
NP_001394574.1:p.Val801fs
NP_001394575.1:p.Val799fs
NP_001394576.1:p.Val799fs
NP_001394577.1:p.Val761fs
NP_001394578.1:p.Val760fs
NP_001394581.1:p.Val802fs
NP_001394582.1:p.Val776fs
NP_001394583.1:p.Val776fs
NP_001394584.1:p.Val776fs
NP_001394585.1:p.Val776fs
NP_001394586.1:p.Val776fs
NP_001394587.1:p.Val776fs
NP_001394588.1:p.Val775fs
NP_001394589.1:p.Val775fs
NP_001394590.1:p.Val775fs
NP_001394591.1:p.Val775fs
NP_001394592.1:p.Val776fs
NP_001394593.1:p.Val761fs
NP_001394594.1:p.Val761fs
NP_001394595.1:p.Val761fs
NP_001394596.1:p.Val761fs
NP_001394597.1:p.Val761fs
NP_001394598.1:p.Val761fs
NP_001394599.1:p.Val760fs
NP_001394600.1:p.Val760fs
NP_001394601.1:p.Val760fs
NP_001394602.1:p.Val760fs
NP_001394603.1:p.Val761fs
NP_001394604.1:p.Val761fs
NP_001394605.1:p.Val761fs
NP_001394606.1:p.Val761fs
NP_001394607.1:p.Val761fs
NP_001394608.1:p.Val761fs
NP_001394609.1:p.Val761fs
NP_001394610.1:p.Val761fs
NP_001394611.1:p.Val761fs
NP_001394612.1:p.Val761fs
NP_001394613.1:p.Val802fs
NP_001394614.1:p.Val760fs
NP_001394615.1:p.Val760fs
NP_001394616.1:p.Val760fs
NP_001394617.1:p.Val760fs
NP_001394618.1:p.Val760fs
NP_001394619.1:p.Val760fs
NP_001394620.1:p.Val760fs
NP_001394621.1:p.Val755fs
NP_001394623.1:p.Val755fs
NP_001394624.1:p.Val755fs
NP_001394625.1:p.Val755fs
NP_001394626.1:p.Val755fs
NP_001394627.1:p.Val755fs
NP_001394653.1:p.Val755fs
NP_001394654.1:p.Val755fs
NP_001394655.1:p.Val755fs
NP_001394656.1:p.Val755fs
NP_001394657.1:p.Val755fs
NP_001394658.1:p.Val755fs
NP_001394659.1:p.Val755fs
NP_001394660.1:p.Val755fs
NP_001394661.1:p.Val755fs
NP_001394662.1:p.Val755fs
NP_001394663.1:p.Val755fs
NP_001394664.1:p.Val755fs
NP_001394665.1:p.Val755fs
NP_001394666.1:p.Val755fs
NP_001394667.1:p.Val755fs
NP_001394668.1:p.Val755fs
NP_001394669.1:p.Val754fs
NP_001394670.1:p.Val754fs
NP_001394671.1:p.Val754fs
NP_001394672.1:p.Val754fs
NP_001394673.1:p.Val754fs
NP_001394674.1:p.Val754fs
NP_001394675.1:p.Val754fs
NP_001394676.1:p.Val754fs
NP_001394677.1:p.Val754fs
NP_001394678.1:p.Val754fs
NP_001394679.1:p.Val755fs
NP_001394680.1:p.Val755fs
NP_001394681.1:p.Val755fs
NP_001394767.1:p.Val754fs
NP_001394768.1:p.Val754fs
NP_001394770.1:p.Val754fs
NP_001394771.1:p.Val754fs
NP_001394772.1:p.Val754fs
NP_001394773.1:p.Val754fs
NP_001394774.1:p.Val754fs
NP_001394775.1:p.Val754fs
NP_001394776.1:p.Val754fs
NP_001394777.1:p.Val754fs
NP_001394778.1:p.Val754fs
NP_001394779.1:p.Val755fs
NP_001394780.1:p.Val755fs
NP_001394781.1:p.Val755fs
NP_001394782.1:p.Val731fs
NP_001394783.1:p.Val802fs
NP_001394787.1:p.Val802fs
NP_001394788.1:p.Val802fs
NP_001394789.1:p.Val801fs
NP_001394790.1:p.Val801fs
NP_001394791.1:p.Val735fs
NP_001394792.1:p.Val761fs
NP_001394803.1:p.Val734fs
NP_001394804.1:p.Val734fs
NP_001394808.1:p.Val732fs
NP_001394810.1:p.Val732fs
NP_001394811.1:p.Val732fs
NP_001394813.1:p.Val732fs
NP_001394814.1:p.Val732fs
NP_001394815.1:p.Val732fs
NP_001394816.1:p.Val732fs
NP_001394818.1:p.Val732fs
NP_001394823.1:p.Val731fs
NP_001394824.1:p.Val731fs
NP_001394825.1:p.Val731fs
NP_001394826.1:p.Val731fs
NP_001394827.1:p.Val731fs
NP_001394828.1:p.Val731fs
NP_001394829.1:p.Val732fs
NP_001394831.1:p.Val732fs
NP_001394833.1:p.Val732fs
NP_001394835.1:p.Val732fs
NP_001394836.1:p.Val732fs
NP_001394837.1:p.Val732fs
NP_001394838.1:p.Val732fs
NP_001394839.1:p.Val732fs
NP_001394844.1:p.Val731fs
NP_001394845.1:p.Val731fs
NP_001394846.1:p.Val731fs
NP_001394847.1:p.Val731fs
NP_001394848.1:p.Val761fs
NP_001394849.1:p.Val714fs
NP_001394850.1:p.Val714fs
NP_001394851.1:p.Val714fs
NP_001394852.1:p.Val714fs
NP_001394853.1:p.Val714fs
NP_001394854.1:p.Val714fs
NP_001394855.1:p.Val714fs
NP_001394856.1:p.Val714fs
NP_001394857.1:p.Val714fs
NP_001394858.1:p.Val714fs
NP_001394859.1:p.Val713fs
NP_001394860.1:p.Val713fs
NP_001394861.1:p.Val713fs
NP_001394862.1:p.Val714fs
NP_001394863.1:p.Val713fs
NP_001394864.1:p.Val714fs
NP_001394865.1:p.Val713fs
NP_001394866.1:p.Val761fs
NP_001394867.1:p.Val761fs
NP_001394868.1:p.Val761fs
NP_001394869.1:p.Val760fs
NP_001394870.1:p.Val760fs
NP_001394871.1:p.Val755fs
NP_001394872.1:p.Val754fs
NP_001394873.1:p.Val755fs
NP_001394874.1:p.Val755fs
NP_001394875.1:p.Val691fs
NP_001394876.1:p.Val691fs
NP_001394877.1:p.Val691fs
NP_001394878.1:p.Val691fs
NP_001394879.1:p.Val691fs
NP_001394880.1:p.Val691fs
NP_001394881.1:p.Val691fs
NP_001394882.1:p.Val691fs
NP_001394883.1:p.Val690fs
NP_001394884.1:p.Val690fs
NP_001394885.1:p.Val690fs
NP_001394886.1:p.Val691fs
NP_001394887.1:p.Val690fs
NP_001394888.1:p.Val675fs
NP_001394889.1:p.Val675fs
NP_001394891.1:p.Val674fs
NP_001394892.1:p.Val675fs
NP_001394893.1:p.Val754fs
NP_001394894.1:p.Val634fs
NP_001394895.1:p.Val506fs
NP_001394896.1:p.Val506fs
NP_009225.1:p.Val802Glufs
NP_009225.1:p.Val802fs
NP_009228.2:p.Val755fs
NP_009231.2:p.Val802fs
LRG_292t1:c.2401_2402TG[2]
LRG_292:g.124854TG[2]
LRG_292p1:p.Val802Glufs
NC_000017.10:g.41245142CA[2]
NC_000017.10:g.41245142_41245143del
NM_007294.3:c.2401_2402TG[2]
NM_007294.3:c.2405_2406delTG
NR_027676.1:n.2537_2538TG[2]
U14680.1:n.2520_2521delTG
U14680.1:n.2524_2525delTG
p.V802Efs*7
p.V802EfsX7
p.Val802Glufs*7

Protein change:

V506fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 2520&base_change=del TG; Breast Cancer Information Core (BIC) (BRCA1): 2524&base_change=del TG; dbSNP: rs80357706

NCBI 1000 Genomes Browser:

rs80357706

Molecular consequence:

NM_001407571.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.2396_2397del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.2396_2397del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.2327_2328del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.2327_2328del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.2327_2328del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.2327_2328del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.2327_2328del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.2327_2328del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.2324_2325del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.2324_2325del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.2324_2325del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.2324_2325del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.2327_2328del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.2204_2205del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.2201_2202del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.2201_2202del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.2138_2139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.2138_2139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.2138_2139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.2138_2139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.2138_2139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.2024_2025del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.2024_2025del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.2021_2022del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.2024_2025del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.1901_1902del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.1517_1518del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.1517_1518del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.788-991TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-991TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+1611TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+1614TG[2] - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000144409	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline, unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000325345	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,
SCV000733642	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV000744658	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Pathogenic (Sep 21, 2015)	germline	clinical testing	Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	19	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
Caucasian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Caucasian	not provided	yes	1	not provided	not provided	not provided	not provided	clinical testing
Czech, German	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Pakistani	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Relation of contraceptive and reproductive history to ovarian cancer risk in carriers and noncarriers of BRCA1 gene mutations.

McGuire V, Felberg A, Mills M, Ostrow KL, DiCioccio R, John EM, West DW, Whittemore AS.

Am J Epidemiol. 2004 Oct 1;160(7):613-8.

PubMed [citation]

PMID:: 15383404

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144409.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	not provided	not provided	clinical testing	PubMed (1)
2	Caucasian	1	not provided	not provided	clinical testing	PubMed (1)
3	Czech, German	1	not provided	not provided	clinical testing	PubMed (1)
4	Pakistani	1	not provided	not provided	clinical testing	PubMed (1)
5	Western European	1	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	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
2	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325345.4

#	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	19	not provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000733642.1

#	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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000744658.1

#	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

ClinVar

Relating variation to medicine