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NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Jan 3, 2024
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:
RCV000047730.23

Allele description [Variation Report for NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)]

NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)
Other names:
p.S713*:TCA>TGA
HGVS:
  • NC_000017.11:g.43093393G>C
  • NG_005905.2:g.124591C>G
  • NM_001407571.1:c.1925C>G
  • NM_001407581.1:c.2138C>G
  • NM_001407582.1:c.2138C>G
  • NM_001407583.1:c.2138C>G
  • NM_001407585.1:c.2138C>G
  • NM_001407587.1:c.2135C>G
  • NM_001407590.1:c.2135C>G
  • NM_001407591.1:c.2135C>G
  • NM_001407593.1:c.2138C>G
  • NM_001407594.1:c.2138C>G
  • NM_001407596.1:c.2138C>G
  • NM_001407597.1:c.2138C>G
  • NM_001407598.1:c.2138C>G
  • NM_001407602.1:c.2138C>G
  • NM_001407603.1:c.2138C>G
  • NM_001407605.1:c.2138C>G
  • NM_001407610.1:c.2135C>G
  • NM_001407611.1:c.2135C>G
  • NM_001407612.1:c.2135C>G
  • NM_001407613.1:c.2135C>G
  • NM_001407614.1:c.2135C>G
  • NM_001407615.1:c.2135C>G
  • NM_001407616.1:c.2138C>G
  • NM_001407617.1:c.2138C>G
  • NM_001407618.1:c.2138C>G
  • NM_001407619.1:c.2138C>G
  • NM_001407620.1:c.2138C>G
  • NM_001407621.1:c.2138C>G
  • NM_001407622.1:c.2138C>G
  • NM_001407623.1:c.2138C>G
  • NM_001407624.1:c.2138C>G
  • NM_001407625.1:c.2138C>G
  • NM_001407626.1:c.2138C>G
  • NM_001407627.1:c.2135C>G
  • NM_001407628.1:c.2135C>G
  • NM_001407629.1:c.2135C>G
  • NM_001407630.1:c.2135C>G
  • NM_001407631.1:c.2135C>G
  • NM_001407632.1:c.2135C>G
  • NM_001407633.1:c.2135C>G
  • NM_001407634.1:c.2135C>G
  • NM_001407635.1:c.2135C>G
  • NM_001407636.1:c.2135C>G
  • NM_001407637.1:c.2135C>G
  • NM_001407638.1:c.2135C>G
  • NM_001407639.1:c.2138C>G
  • NM_001407640.1:c.2138C>G
  • NM_001407641.1:c.2138C>G
  • NM_001407642.1:c.2138C>G
  • NM_001407644.1:c.2135C>G
  • NM_001407645.1:c.2135C>G
  • NM_001407646.1:c.2129C>G
  • NM_001407647.1:c.2129C>G
  • NM_001407648.1:c.2015C>G
  • NM_001407649.1:c.2012C>G
  • NM_001407652.1:c.2138C>G
  • NM_001407653.1:c.2060C>G
  • NM_001407654.1:c.2060C>G
  • NM_001407655.1:c.2060C>G
  • NM_001407656.1:c.2060C>G
  • NM_001407657.1:c.2060C>G
  • NM_001407658.1:c.2060C>G
  • NM_001407659.1:c.2057C>G
  • NM_001407660.1:c.2057C>G
  • NM_001407661.1:c.2057C>G
  • NM_001407662.1:c.2057C>G
  • NM_001407663.1:c.2060C>G
  • NM_001407664.1:c.2015C>G
  • NM_001407665.1:c.2015C>G
  • NM_001407666.1:c.2015C>G
  • NM_001407667.1:c.2015C>G
  • NM_001407668.1:c.2015C>G
  • NM_001407669.1:c.2015C>G
  • NM_001407670.1:c.2012C>G
  • NM_001407671.1:c.2012C>G
  • NM_001407672.1:c.2012C>G
  • NM_001407673.1:c.2012C>G
  • NM_001407674.1:c.2015C>G
  • NM_001407675.1:c.2015C>G
  • NM_001407676.1:c.2015C>G
  • NM_001407677.1:c.2015C>G
  • NM_001407678.1:c.2015C>G
  • NM_001407679.1:c.2015C>G
  • NM_001407680.1:c.2015C>G
  • NM_001407681.1:c.2015C>G
  • NM_001407682.1:c.2015C>G
  • NM_001407683.1:c.2015C>G
  • NM_001407684.1:c.2138C>G
  • NM_001407685.1:c.2012C>G
  • NM_001407686.1:c.2012C>G
  • NM_001407687.1:c.2012C>G
  • NM_001407688.1:c.2012C>G
  • NM_001407689.1:c.2012C>G
  • NM_001407690.1:c.2012C>G
  • NM_001407691.1:c.2012C>G
  • NM_001407692.1:c.1997C>G
  • NM_001407694.1:c.1997C>G
  • NM_001407695.1:c.1997C>G
  • NM_001407696.1:c.1997C>G
  • NM_001407697.1:c.1997C>G
  • NM_001407698.1:c.1997C>G
  • NM_001407724.1:c.1997C>G
  • NM_001407725.1:c.1997C>G
  • NM_001407726.1:c.1997C>G
  • NM_001407727.1:c.1997C>G
  • NM_001407728.1:c.1997C>G
  • NM_001407729.1:c.1997C>G
  • NM_001407730.1:c.1997C>G
  • NM_001407731.1:c.1997C>G
  • NM_001407732.1:c.1997C>G
  • NM_001407733.1:c.1997C>G
  • NM_001407734.1:c.1997C>G
  • NM_001407735.1:c.1997C>G
  • NM_001407736.1:c.1997C>G
  • NM_001407737.1:c.1997C>G
  • NM_001407738.1:c.1997C>G
  • NM_001407739.1:c.1997C>G
  • NM_001407740.1:c.1994C>G
  • NM_001407741.1:c.1994C>G
  • NM_001407742.1:c.1994C>G
  • NM_001407743.1:c.1994C>G
  • NM_001407744.1:c.1994C>G
  • NM_001407745.1:c.1994C>G
  • NM_001407746.1:c.1994C>G
  • NM_001407747.1:c.1994C>G
  • NM_001407748.1:c.1994C>G
  • NM_001407749.1:c.1994C>G
  • NM_001407750.1:c.1997C>G
  • NM_001407751.1:c.1997C>G
  • NM_001407752.1:c.1997C>G
  • NM_001407838.1:c.1994C>G
  • NM_001407839.1:c.1994C>G
  • NM_001407841.1:c.1994C>G
  • NM_001407842.1:c.1994C>G
  • NM_001407843.1:c.1994C>G
  • NM_001407844.1:c.1994C>G
  • NM_001407845.1:c.1994C>G
  • NM_001407846.1:c.1994C>G
  • NM_001407847.1:c.1994C>G
  • NM_001407848.1:c.1994C>G
  • NM_001407849.1:c.1994C>G
  • NM_001407850.1:c.1997C>G
  • NM_001407851.1:c.1997C>G
  • NM_001407852.1:c.1997C>G
  • NM_001407853.1:c.1925C>G
  • NM_001407854.1:c.2138C>G
  • NM_001407858.1:c.2138C>G
  • NM_001407859.1:c.2138C>G
  • NM_001407860.1:c.2135C>G
  • NM_001407861.1:c.2135C>G
  • NM_001407862.1:c.1937C>G
  • NM_001407863.1:c.2015C>G
  • NM_001407874.1:c.1934C>G
  • NM_001407875.1:c.1934C>G
  • NM_001407879.1:c.1928C>G
  • NM_001407881.1:c.1928C>G
  • NM_001407882.1:c.1928C>G
  • NM_001407884.1:c.1928C>G
  • NM_001407885.1:c.1928C>G
  • NM_001407886.1:c.1928C>G
  • NM_001407887.1:c.1928C>G
  • NM_001407889.1:c.1928C>G
  • NM_001407894.1:c.1925C>G
  • NM_001407895.1:c.1925C>G
  • NM_001407896.1:c.1925C>G
  • NM_001407897.1:c.1925C>G
  • NM_001407898.1:c.1925C>G
  • NM_001407899.1:c.1925C>G
  • NM_001407900.1:c.1928C>G
  • NM_001407902.1:c.1928C>G
  • NM_001407904.1:c.1928C>G
  • NM_001407906.1:c.1928C>G
  • NM_001407907.1:c.1928C>G
  • NM_001407908.1:c.1928C>G
  • NM_001407909.1:c.1928C>G
  • NM_001407910.1:c.1928C>G
  • NM_001407915.1:c.1925C>G
  • NM_001407916.1:c.1925C>G
  • NM_001407917.1:c.1925C>G
  • NM_001407918.1:c.1925C>G
  • NM_001407919.1:c.2015C>G
  • NM_001407920.1:c.1874C>G
  • NM_001407921.1:c.1874C>G
  • NM_001407922.1:c.1874C>G
  • NM_001407923.1:c.1874C>G
  • NM_001407924.1:c.1874C>G
  • NM_001407925.1:c.1874C>G
  • NM_001407926.1:c.1874C>G
  • NM_001407927.1:c.1874C>G
  • NM_001407928.1:c.1874C>G
  • NM_001407929.1:c.1874C>G
  • NM_001407930.1:c.1871C>G
  • NM_001407931.1:c.1871C>G
  • NM_001407932.1:c.1871C>G
  • NM_001407933.1:c.1874C>G
  • NM_001407934.1:c.1871C>G
  • NM_001407935.1:c.1874C>G
  • NM_001407936.1:c.1871C>G
  • NM_001407937.1:c.2015C>G
  • NM_001407938.1:c.2015C>G
  • NM_001407939.1:c.2015C>G
  • NM_001407940.1:c.2012C>G
  • NM_001407941.1:c.2012C>G
  • NM_001407942.1:c.1997C>G
  • NM_001407943.1:c.1994C>G
  • NM_001407944.1:c.1997C>G
  • NM_001407945.1:c.1997C>G
  • NM_001407946.1:c.1805C>G
  • NM_001407947.1:c.1805C>G
  • NM_001407948.1:c.1805C>G
  • NM_001407949.1:c.1805C>G
  • NM_001407950.1:c.1805C>G
  • NM_001407951.1:c.1805C>G
  • NM_001407952.1:c.1805C>G
  • NM_001407953.1:c.1805C>G
  • NM_001407954.1:c.1802C>G
  • NM_001407955.1:c.1802C>G
  • NM_001407956.1:c.1802C>G
  • NM_001407957.1:c.1805C>G
  • NM_001407958.1:c.1802C>G
  • NM_001407959.1:c.1757C>G
  • NM_001407960.1:c.1757C>G
  • NM_001407962.1:c.1754C>G
  • NM_001407963.1:c.1757C>G
  • NM_001407964.1:c.1994C>G
  • NM_001407965.1:c.1634C>G
  • NM_001407966.1:c.1250C>G
  • NM_001407967.1:c.1250C>G
  • NM_001407968.1:c.788-1254C>G
  • NM_001407969.1:c.788-1254C>G
  • NM_001407970.1:c.787+1351C>G
  • NM_001407971.1:c.787+1351C>G
  • NM_001407972.1:c.784+1351C>G
  • NM_001407973.1:c.787+1351C>G
  • NM_001407974.1:c.787+1351C>G
  • NM_001407975.1:c.787+1351C>G
  • NM_001407976.1:c.787+1351C>G
  • NM_001407977.1:c.787+1351C>G
  • NM_001407978.1:c.787+1351C>G
  • NM_001407979.1:c.787+1351C>G
  • NM_001407980.1:c.787+1351C>G
  • NM_001407981.1:c.787+1351C>G
  • NM_001407982.1:c.787+1351C>G
  • NM_001407983.1:c.787+1351C>G
  • NM_001407984.1:c.784+1351C>G
  • NM_001407985.1:c.784+1351C>G
  • NM_001407986.1:c.784+1351C>G
  • NM_001407990.1:c.787+1351C>G
  • NM_001407991.1:c.784+1351C>G
  • NM_001407992.1:c.784+1351C>G
  • NM_001407993.1:c.787+1351C>G
  • NM_001408392.1:c.784+1351C>G
  • NM_001408396.1:c.784+1351C>G
  • NM_001408397.1:c.784+1351C>G
  • NM_001408398.1:c.784+1351C>G
  • NM_001408399.1:c.784+1351C>G
  • NM_001408400.1:c.784+1351C>G
  • NM_001408401.1:c.784+1351C>G
  • NM_001408402.1:c.784+1351C>G
  • NM_001408403.1:c.787+1351C>G
  • NM_001408404.1:c.787+1351C>G
  • NM_001408406.1:c.790+1348C>G
  • NM_001408407.1:c.784+1351C>G
  • NM_001408408.1:c.778+1351C>G
  • NM_001408409.1:c.709+1351C>G
  • NM_001408410.1:c.646+1351C>G
  • NM_001408411.1:c.709+1351C>G
  • NM_001408412.1:c.709+1351C>G
  • NM_001408413.1:c.706+1351C>G
  • NM_001408414.1:c.709+1351C>G
  • NM_001408415.1:c.709+1351C>G
  • NM_001408416.1:c.706+1351C>G
  • NM_001408418.1:c.671-2361C>G
  • NM_001408419.1:c.671-2361C>G
  • NM_001408420.1:c.671-2361C>G
  • NM_001408421.1:c.668-2361C>G
  • NM_001408422.1:c.671-2361C>G
  • NM_001408423.1:c.671-2361C>G
  • NM_001408424.1:c.668-2361C>G
  • NM_001408425.1:c.664+1351C>G
  • NM_001408426.1:c.664+1351C>G
  • NM_001408427.1:c.664+1351C>G
  • NM_001408428.1:c.664+1351C>G
  • NM_001408429.1:c.664+1351C>G
  • NM_001408430.1:c.664+1351C>G
  • NM_001408431.1:c.668-2361C>G
  • NM_001408432.1:c.661+1351C>G
  • NM_001408433.1:c.661+1351C>G
  • NM_001408434.1:c.661+1351C>G
  • NM_001408435.1:c.661+1351C>G
  • NM_001408436.1:c.664+1351C>G
  • NM_001408437.1:c.664+1351C>G
  • NM_001408438.1:c.664+1351C>G
  • NM_001408439.1:c.664+1351C>G
  • NM_001408440.1:c.664+1351C>G
  • NM_001408441.1:c.664+1351C>G
  • NM_001408442.1:c.664+1351C>G
  • NM_001408443.1:c.664+1351C>G
  • NM_001408444.1:c.664+1351C>G
  • NM_001408445.1:c.661+1351C>G
  • NM_001408446.1:c.661+1351C>G
  • NM_001408447.1:c.661+1351C>G
  • NM_001408448.1:c.661+1351C>G
  • NM_001408450.1:c.661+1351C>G
  • NM_001408451.1:c.652+1351C>G
  • NM_001408452.1:c.646+1351C>G
  • NM_001408453.1:c.646+1351C>G
  • NM_001408454.1:c.646+1351C>G
  • NM_001408455.1:c.646+1351C>G
  • NM_001408456.1:c.646+1351C>G
  • NM_001408457.1:c.646+1351C>G
  • NM_001408458.1:c.646+1351C>G
  • NM_001408459.1:c.646+1351C>G
  • NM_001408460.1:c.646+1351C>G
  • NM_001408461.1:c.646+1351C>G
  • NM_001408462.1:c.643+1351C>G
  • NM_001408463.1:c.643+1351C>G
  • NM_001408464.1:c.643+1351C>G
  • NM_001408465.1:c.643+1351C>G
  • NM_001408466.1:c.646+1351C>G
  • NM_001408467.1:c.646+1351C>G
  • NM_001408468.1:c.643+1351C>G
  • NM_001408469.1:c.646+1351C>G
  • NM_001408470.1:c.643+1351C>G
  • NM_001408472.1:c.787+1351C>G
  • NM_001408473.1:c.784+1351C>G
  • NM_001408474.1:c.586+1351C>G
  • NM_001408475.1:c.583+1351C>G
  • NM_001408476.1:c.586+1351C>G
  • NM_001408478.1:c.577+1351C>G
  • NM_001408479.1:c.577+1351C>G
  • NM_001408480.1:c.577+1351C>G
  • NM_001408481.1:c.577+1351C>G
  • NM_001408482.1:c.577+1351C>G
  • NM_001408483.1:c.577+1351C>G
  • NM_001408484.1:c.577+1351C>G
  • NM_001408485.1:c.577+1351C>G
  • NM_001408489.1:c.577+1351C>G
  • NM_001408490.1:c.574+1351C>G
  • NM_001408491.1:c.574+1351C>G
  • NM_001408492.1:c.577+1351C>G
  • NM_001408493.1:c.574+1351C>G
  • NM_001408494.1:c.548-2361C>G
  • NM_001408495.1:c.545-2361C>G
  • NM_001408496.1:c.523+1351C>G
  • NM_001408497.1:c.523+1351C>G
  • NM_001408498.1:c.523+1351C>G
  • NM_001408499.1:c.523+1351C>G
  • NM_001408500.1:c.523+1351C>G
  • NM_001408501.1:c.523+1351C>G
  • NM_001408502.1:c.454+1351C>G
  • NM_001408503.1:c.520+1351C>G
  • NM_001408504.1:c.520+1351C>G
  • NM_001408505.1:c.520+1351C>G
  • NM_001408506.1:c.461-2361C>G
  • NM_001408507.1:c.461-2361C>G
  • NM_001408508.1:c.451+1351C>G
  • NM_001408509.1:c.451+1351C>G
  • NM_001408510.1:c.406+1351C>G
  • NM_001408511.1:c.404-2361C>G
  • NM_001408512.1:c.283+1351C>G
  • NM_001408513.1:c.577+1351C>G
  • NM_001408514.1:c.577+1351C>G
  • NM_007294.4:c.2138C>GMANE SELECT
  • NM_007297.4:c.1997C>G
  • NM_007298.4:c.787+1351C>G
  • NM_007299.4:c.787+1351C>G
  • NM_007300.4:c.2138C>G
  • NP_001394500.1:p.Ser642Ter
  • NP_001394510.1:p.Ser713Ter
  • NP_001394511.1:p.Ser713Ter
  • NP_001394512.1:p.Ser713Ter
  • NP_001394514.1:p.Ser713Ter
  • NP_001394516.1:p.Ser712Ter
  • NP_001394519.1:p.Ser712Ter
  • NP_001394520.1:p.Ser712Ter
  • NP_001394522.1:p.Ser713Ter
  • NP_001394523.1:p.Ser713Ter
  • NP_001394525.1:p.Ser713Ter
  • NP_001394526.1:p.Ser713Ter
  • NP_001394527.1:p.Ser713Ter
  • NP_001394531.1:p.Ser713Ter
  • NP_001394532.1:p.Ser713Ter
  • NP_001394534.1:p.Ser713Ter
  • NP_001394539.1:p.Ser712Ter
  • NP_001394540.1:p.Ser712Ter
  • NP_001394541.1:p.Ser712Ter
  • NP_001394542.1:p.Ser712Ter
  • NP_001394543.1:p.Ser712Ter
  • NP_001394544.1:p.Ser712Ter
  • NP_001394545.1:p.Ser713Ter
  • NP_001394546.1:p.Ser713Ter
  • NP_001394547.1:p.Ser713Ter
  • NP_001394548.1:p.Ser713Ter
  • NP_001394549.1:p.Ser713Ter
  • NP_001394550.1:p.Ser713Ter
  • NP_001394551.1:p.Ser713Ter
  • NP_001394552.1:p.Ser713Ter
  • NP_001394553.1:p.Ser713Ter
  • NP_001394554.1:p.Ser713Ter
  • NP_001394555.1:p.Ser713Ter
  • NP_001394556.1:p.Ser712Ter
  • NP_001394557.1:p.Ser712Ter
  • NP_001394558.1:p.Ser712Ter
  • NP_001394559.1:p.Ser712Ter
  • NP_001394560.1:p.Ser712Ter
  • NP_001394561.1:p.Ser712Ter
  • NP_001394562.1:p.Ser712Ter
  • NP_001394563.1:p.Ser712Ter
  • NP_001394564.1:p.Ser712Ter
  • NP_001394565.1:p.Ser712Ter
  • NP_001394566.1:p.Ser712Ter
  • NP_001394567.1:p.Ser712Ter
  • NP_001394568.1:p.Ser713Ter
  • NP_001394569.1:p.Ser713Ter
  • NP_001394570.1:p.Ser713Ter
  • NP_001394571.1:p.Ser713Ter
  • NP_001394573.1:p.Ser712Ter
  • NP_001394574.1:p.Ser712Ter
  • NP_001394575.1:p.Ser710Ter
  • NP_001394576.1:p.Ser710Ter
  • NP_001394577.1:p.Ser672Ter
  • NP_001394578.1:p.Ser671Ter
  • NP_001394581.1:p.Ser713Ter
  • NP_001394582.1:p.Ser687Ter
  • NP_001394583.1:p.Ser687Ter
  • NP_001394584.1:p.Ser687Ter
  • NP_001394585.1:p.Ser687Ter
  • NP_001394586.1:p.Ser687Ter
  • NP_001394587.1:p.Ser687Ter
  • NP_001394588.1:p.Ser686Ter
  • NP_001394589.1:p.Ser686Ter
  • NP_001394590.1:p.Ser686Ter
  • NP_001394591.1:p.Ser686Ter
  • NP_001394592.1:p.Ser687Ter
  • NP_001394593.1:p.Ser672Ter
  • NP_001394594.1:p.Ser672Ter
  • NP_001394595.1:p.Ser672Ter
  • NP_001394596.1:p.Ser672Ter
  • NP_001394597.1:p.Ser672Ter
  • NP_001394598.1:p.Ser672Ter
  • NP_001394599.1:p.Ser671Ter
  • NP_001394600.1:p.Ser671Ter
  • NP_001394601.1:p.Ser671Ter
  • NP_001394602.1:p.Ser671Ter
  • NP_001394603.1:p.Ser672Ter
  • NP_001394604.1:p.Ser672Ter
  • NP_001394605.1:p.Ser672Ter
  • NP_001394606.1:p.Ser672Ter
  • NP_001394607.1:p.Ser672Ter
  • NP_001394608.1:p.Ser672Ter
  • NP_001394609.1:p.Ser672Ter
  • NP_001394610.1:p.Ser672Ter
  • NP_001394611.1:p.Ser672Ter
  • NP_001394612.1:p.Ser672Ter
  • NP_001394613.1:p.Ser713Ter
  • NP_001394614.1:p.Ser671Ter
  • NP_001394615.1:p.Ser671Ter
  • NP_001394616.1:p.Ser671Ter
  • NP_001394617.1:p.Ser671Ter
  • NP_001394618.1:p.Ser671Ter
  • NP_001394619.1:p.Ser671Ter
  • NP_001394620.1:p.Ser671Ter
  • NP_001394621.1:p.Ser666Ter
  • NP_001394623.1:p.Ser666Ter
  • NP_001394624.1:p.Ser666Ter
  • NP_001394625.1:p.Ser666Ter
  • NP_001394626.1:p.Ser666Ter
  • NP_001394627.1:p.Ser666Ter
  • NP_001394653.1:p.Ser666Ter
  • NP_001394654.1:p.Ser666Ter
  • NP_001394655.1:p.Ser666Ter
  • NP_001394656.1:p.Ser666Ter
  • NP_001394657.1:p.Ser666Ter
  • NP_001394658.1:p.Ser666Ter
  • NP_001394659.1:p.Ser666Ter
  • NP_001394660.1:p.Ser666Ter
  • NP_001394661.1:p.Ser666Ter
  • NP_001394662.1:p.Ser666Ter
  • NP_001394663.1:p.Ser666Ter
  • NP_001394664.1:p.Ser666Ter
  • NP_001394665.1:p.Ser666Ter
  • NP_001394666.1:p.Ser666Ter
  • NP_001394667.1:p.Ser666Ter
  • NP_001394668.1:p.Ser666Ter
  • NP_001394669.1:p.Ser665Ter
  • NP_001394670.1:p.Ser665Ter
  • NP_001394671.1:p.Ser665Ter
  • NP_001394672.1:p.Ser665Ter
  • NP_001394673.1:p.Ser665Ter
  • NP_001394674.1:p.Ser665Ter
  • NP_001394675.1:p.Ser665Ter
  • NP_001394676.1:p.Ser665Ter
  • NP_001394677.1:p.Ser665Ter
  • NP_001394678.1:p.Ser665Ter
  • NP_001394679.1:p.Ser666Ter
  • NP_001394680.1:p.Ser666Ter
  • NP_001394681.1:p.Ser666Ter
  • NP_001394767.1:p.Ser665Ter
  • NP_001394768.1:p.Ser665Ter
  • NP_001394770.1:p.Ser665Ter
  • NP_001394771.1:p.Ser665Ter
  • NP_001394772.1:p.Ser665Ter
  • NP_001394773.1:p.Ser665Ter
  • NP_001394774.1:p.Ser665Ter
  • NP_001394775.1:p.Ser665Ter
  • NP_001394776.1:p.Ser665Ter
  • NP_001394777.1:p.Ser665Ter
  • NP_001394778.1:p.Ser665Ter
  • NP_001394779.1:p.Ser666Ter
  • NP_001394780.1:p.Ser666Ter
  • NP_001394781.1:p.Ser666Ter
  • NP_001394782.1:p.Ser642Ter
  • NP_001394783.1:p.Ser713Ter
  • NP_001394787.1:p.Ser713Ter
  • NP_001394788.1:p.Ser713Ter
  • NP_001394789.1:p.Ser712Ter
  • NP_001394790.1:p.Ser712Ter
  • NP_001394791.1:p.Ser646Ter
  • NP_001394792.1:p.Ser672Ter
  • NP_001394803.1:p.Ser645Ter
  • NP_001394804.1:p.Ser645Ter
  • NP_001394808.1:p.Ser643Ter
  • NP_001394810.1:p.Ser643Ter
  • NP_001394811.1:p.Ser643Ter
  • NP_001394813.1:p.Ser643Ter
  • NP_001394814.1:p.Ser643Ter
  • NP_001394815.1:p.Ser643Ter
  • NP_001394816.1:p.Ser643Ter
  • NP_001394818.1:p.Ser643Ter
  • NP_001394823.1:p.Ser642Ter
  • NP_001394824.1:p.Ser642Ter
  • NP_001394825.1:p.Ser642Ter
  • NP_001394826.1:p.Ser642Ter
  • NP_001394827.1:p.Ser642Ter
  • NP_001394828.1:p.Ser642Ter
  • NP_001394829.1:p.Ser643Ter
  • NP_001394831.1:p.Ser643Ter
  • NP_001394833.1:p.Ser643Ter
  • NP_001394835.1:p.Ser643Ter
  • NP_001394836.1:p.Ser643Ter
  • NP_001394837.1:p.Ser643Ter
  • NP_001394838.1:p.Ser643Ter
  • NP_001394839.1:p.Ser643Ter
  • NP_001394844.1:p.Ser642Ter
  • NP_001394845.1:p.Ser642Ter
  • NP_001394846.1:p.Ser642Ter
  • NP_001394847.1:p.Ser642Ter
  • NP_001394848.1:p.Ser672Ter
  • NP_001394849.1:p.Ser625Ter
  • NP_001394850.1:p.Ser625Ter
  • NP_001394851.1:p.Ser625Ter
  • NP_001394852.1:p.Ser625Ter
  • NP_001394853.1:p.Ser625Ter
  • NP_001394854.1:p.Ser625Ter
  • NP_001394855.1:p.Ser625Ter
  • NP_001394856.1:p.Ser625Ter
  • NP_001394857.1:p.Ser625Ter
  • NP_001394858.1:p.Ser625Ter
  • NP_001394859.1:p.Ser624Ter
  • NP_001394860.1:p.Ser624Ter
  • NP_001394861.1:p.Ser624Ter
  • NP_001394862.1:p.Ser625Ter
  • NP_001394863.1:p.Ser624Ter
  • NP_001394864.1:p.Ser625Ter
  • NP_001394865.1:p.Ser624Ter
  • NP_001394866.1:p.Ser672Ter
  • NP_001394867.1:p.Ser672Ter
  • NP_001394868.1:p.Ser672Ter
  • NP_001394869.1:p.Ser671Ter
  • NP_001394870.1:p.Ser671Ter
  • NP_001394871.1:p.Ser666Ter
  • NP_001394872.1:p.Ser665Ter
  • NP_001394873.1:p.Ser666Ter
  • NP_001394874.1:p.Ser666Ter
  • NP_001394875.1:p.Ser602Ter
  • NP_001394876.1:p.Ser602Ter
  • NP_001394877.1:p.Ser602Ter
  • NP_001394878.1:p.Ser602Ter
  • NP_001394879.1:p.Ser602Ter
  • NP_001394880.1:p.Ser602Ter
  • NP_001394881.1:p.Ser602Ter
  • NP_001394882.1:p.Ser602Ter
  • NP_001394883.1:p.Ser601Ter
  • NP_001394884.1:p.Ser601Ter
  • NP_001394885.1:p.Ser601Ter
  • NP_001394886.1:p.Ser602Ter
  • NP_001394887.1:p.Ser601Ter
  • NP_001394888.1:p.Ser586Ter
  • NP_001394889.1:p.Ser586Ter
  • NP_001394891.1:p.Ser585Ter
  • NP_001394892.1:p.Ser586Ter
  • NP_001394893.1:p.Ser665Ter
  • NP_001394894.1:p.Ser545Ter
  • NP_001394895.1:p.Ser417Ter
  • NP_001394896.1:p.Ser417Ter
  • NP_009225.1:p.Ser713Ter
  • NP_009225.1:p.Ser713Ter
  • NP_009228.2:p.Ser666Ter
  • NP_009231.2:p.Ser713Ter
  • LRG_292t1:c.2138C>G
  • LRG_292:g.124591C>G
  • LRG_292p1:p.Ser713Ter
  • NC_000017.10:g.41245410G>C
  • NM_007294.3:c.2138C>G
  • NR_027676.1:n.2274C>G
  • U14680.1:n.2257C>G
  • p.S713*
  • p.Ser713*
Nucleotide change:
2257C>G
Protein change:
S417*
Links:
dbSNP: rs80357233
NCBI 1000 Genomes Browser:
rs80357233
Molecular consequence:
  • NM_001407968.1:c.788-1254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-1254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1348C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-2361C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-2361C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-2361C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-2361C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-2361C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-2361C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-2361C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-2361C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2361C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2361C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-2361C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-2361C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2361C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1351C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1925C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.2129C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.2129C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.2012C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.2060C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.2060C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.2060C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.2060C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.2060C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.2060C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.2057C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.2057C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.2057C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.2057C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.2060C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.2012C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.2012C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.2012C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.2012C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.2012C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.2012C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.2012C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.2012C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.2012C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.2012C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.2012C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.1925C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.1937C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.1934C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.1934C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.1928C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.1928C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.1928C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.1928C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.1928C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.1928C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.1928C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.1928C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.1925C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.1925C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.1925C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.1925C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.1925C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.1925C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.1928C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.1928C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.1928C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.1928C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.1928C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.1928C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.1928C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.1928C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.1925C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.1925C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.1925C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.1925C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.1874C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.1874C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.1874C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.1874C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.1874C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.1874C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.1874C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.1874C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.1874C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.1874C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.1871C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.1871C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.1871C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.1874C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.1871C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.1874C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.1871C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.2015C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.2012C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.2012C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.1805C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.1805C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.1805C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.1805C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.1805C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.1805C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.1805C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.1805C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.1802C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.1802C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.1802C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.1805C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.1802C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.1757C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.1757C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.1754C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.1757C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.1994C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.1634C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407966.1:c.1250C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407967.1:c.1250C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.1997C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.2138C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000075743Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 3, 2024) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV000587190Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)
no assertion criteria provided
Pathogenic
(Jan 31, 2014) 		germlineresearch

SCV000698921Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Feb 16, 2017) 		germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]
PMID:
20104584
PMCID:
PMC2928257

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818
See all PubMed Citations (12)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000075743.14

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change creates a premature translational stop signal (p.Ser713*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is present in population databases (rs80357233, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with a personal and/or family history of breast and ovarian cancer (PMID: 11139249, 21913181, 22430266). This variant is also known as 2257C>G. ClinVar contains an entry for this variant (Variation ID: 37451). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587190.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698921.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

Variant summary: The BRCA1 c.2138C>G (p.Ser713X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.2157dupA. p.Glu720fsX6; c.2197_2201delGAGAA, p.Glu733fsX5; c.2241delC, p.Asp749fsX4). One in silico tool predicts a damaging outcome for this variant. This variant was found in 1/122388 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). The variant has been reported in numerous affected individuals in the literature. Functional studies have demonstrated a reduction on multiple aspects of BRCA1 function attributed to this variant. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024