U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.1924G>C (p.Asp642His) AND not specified

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Apr 30, 2021
Review status:
criteria provided, conflicting classifications
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:
RCV000430192.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.1924G>C (p.Asp642His)]

NM_007294.4(BRCA1):c.1924G>C (p.Asp642His)

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.1924G>C (p.Asp642His)
Other names:
2043G>C
HGVS:
  • NC_000017.11:g.43093607C>G
  • NG_005905.2:g.124377G>C
  • NM_001407571.1:c.1711G>C
  • NM_001407581.1:c.1924G>C
  • NM_001407582.1:c.1924G>C
  • NM_001407583.1:c.1924G>C
  • NM_001407585.1:c.1924G>C
  • NM_001407587.1:c.1921G>C
  • NM_001407590.1:c.1921G>C
  • NM_001407591.1:c.1921G>C
  • NM_001407593.1:c.1924G>C
  • NM_001407594.1:c.1924G>C
  • NM_001407596.1:c.1924G>C
  • NM_001407597.1:c.1924G>C
  • NM_001407598.1:c.1924G>C
  • NM_001407602.1:c.1924G>C
  • NM_001407603.1:c.1924G>C
  • NM_001407605.1:c.1924G>C
  • NM_001407610.1:c.1921G>C
  • NM_001407611.1:c.1921G>C
  • NM_001407612.1:c.1921G>C
  • NM_001407613.1:c.1921G>C
  • NM_001407614.1:c.1921G>C
  • NM_001407615.1:c.1921G>C
  • NM_001407616.1:c.1924G>C
  • NM_001407617.1:c.1924G>C
  • NM_001407618.1:c.1924G>C
  • NM_001407619.1:c.1924G>C
  • NM_001407620.1:c.1924G>C
  • NM_001407621.1:c.1924G>C
  • NM_001407622.1:c.1924G>C
  • NM_001407623.1:c.1924G>C
  • NM_001407624.1:c.1924G>C
  • NM_001407625.1:c.1924G>C
  • NM_001407626.1:c.1924G>C
  • NM_001407627.1:c.1921G>C
  • NM_001407628.1:c.1921G>C
  • NM_001407629.1:c.1921G>C
  • NM_001407630.1:c.1921G>C
  • NM_001407631.1:c.1921G>C
  • NM_001407632.1:c.1921G>C
  • NM_001407633.1:c.1921G>C
  • NM_001407634.1:c.1921G>C
  • NM_001407635.1:c.1921G>C
  • NM_001407636.1:c.1921G>C
  • NM_001407637.1:c.1921G>C
  • NM_001407638.1:c.1921G>C
  • NM_001407639.1:c.1924G>C
  • NM_001407640.1:c.1924G>C
  • NM_001407641.1:c.1924G>C
  • NM_001407642.1:c.1924G>C
  • NM_001407644.1:c.1921G>C
  • NM_001407645.1:c.1921G>C
  • NM_001407646.1:c.1915G>C
  • NM_001407647.1:c.1915G>C
  • NM_001407648.1:c.1801G>C
  • NM_001407649.1:c.1798G>C
  • NM_001407652.1:c.1924G>C
  • NM_001407653.1:c.1846G>C
  • NM_001407654.1:c.1846G>C
  • NM_001407655.1:c.1846G>C
  • NM_001407656.1:c.1846G>C
  • NM_001407657.1:c.1846G>C
  • NM_001407658.1:c.1846G>C
  • NM_001407659.1:c.1843G>C
  • NM_001407660.1:c.1843G>C
  • NM_001407661.1:c.1843G>C
  • NM_001407662.1:c.1843G>C
  • NM_001407663.1:c.1846G>C
  • NM_001407664.1:c.1801G>C
  • NM_001407665.1:c.1801G>C
  • NM_001407666.1:c.1801G>C
  • NM_001407667.1:c.1801G>C
  • NM_001407668.1:c.1801G>C
  • NM_001407669.1:c.1801G>C
  • NM_001407670.1:c.1798G>C
  • NM_001407671.1:c.1798G>C
  • NM_001407672.1:c.1798G>C
  • NM_001407673.1:c.1798G>C
  • NM_001407674.1:c.1801G>C
  • NM_001407675.1:c.1801G>C
  • NM_001407676.1:c.1801G>C
  • NM_001407677.1:c.1801G>C
  • NM_001407678.1:c.1801G>C
  • NM_001407679.1:c.1801G>C
  • NM_001407680.1:c.1801G>C
  • NM_001407681.1:c.1801G>C
  • NM_001407682.1:c.1801G>C
  • NM_001407683.1:c.1801G>C
  • NM_001407684.1:c.1924G>C
  • NM_001407685.1:c.1798G>C
  • NM_001407686.1:c.1798G>C
  • NM_001407687.1:c.1798G>C
  • NM_001407688.1:c.1798G>C
  • NM_001407689.1:c.1798G>C
  • NM_001407690.1:c.1798G>C
  • NM_001407691.1:c.1798G>C
  • NM_001407692.1:c.1783G>C
  • NM_001407694.1:c.1783G>C
  • NM_001407695.1:c.1783G>C
  • NM_001407696.1:c.1783G>C
  • NM_001407697.1:c.1783G>C
  • NM_001407698.1:c.1783G>C
  • NM_001407724.1:c.1783G>C
  • NM_001407725.1:c.1783G>C
  • NM_001407726.1:c.1783G>C
  • NM_001407727.1:c.1783G>C
  • NM_001407728.1:c.1783G>C
  • NM_001407729.1:c.1783G>C
  • NM_001407730.1:c.1783G>C
  • NM_001407731.1:c.1783G>C
  • NM_001407732.1:c.1783G>C
  • NM_001407733.1:c.1783G>C
  • NM_001407734.1:c.1783G>C
  • NM_001407735.1:c.1783G>C
  • NM_001407736.1:c.1783G>C
  • NM_001407737.1:c.1783G>C
  • NM_001407738.1:c.1783G>C
  • NM_001407739.1:c.1783G>C
  • NM_001407740.1:c.1780G>C
  • NM_001407741.1:c.1780G>C
  • NM_001407742.1:c.1780G>C
  • NM_001407743.1:c.1780G>C
  • NM_001407744.1:c.1780G>C
  • NM_001407745.1:c.1780G>C
  • NM_001407746.1:c.1780G>C
  • NM_001407747.1:c.1780G>C
  • NM_001407748.1:c.1780G>C
  • NM_001407749.1:c.1780G>C
  • NM_001407750.1:c.1783G>C
  • NM_001407751.1:c.1783G>C
  • NM_001407752.1:c.1783G>C
  • NM_001407838.1:c.1780G>C
  • NM_001407839.1:c.1780G>C
  • NM_001407841.1:c.1780G>C
  • NM_001407842.1:c.1780G>C
  • NM_001407843.1:c.1780G>C
  • NM_001407844.1:c.1780G>C
  • NM_001407845.1:c.1780G>C
  • NM_001407846.1:c.1780G>C
  • NM_001407847.1:c.1780G>C
  • NM_001407848.1:c.1780G>C
  • NM_001407849.1:c.1780G>C
  • NM_001407850.1:c.1783G>C
  • NM_001407851.1:c.1783G>C
  • NM_001407852.1:c.1783G>C
  • NM_001407853.1:c.1711G>C
  • NM_001407854.1:c.1924G>C
  • NM_001407858.1:c.1924G>C
  • NM_001407859.1:c.1924G>C
  • NM_001407860.1:c.1921G>C
  • NM_001407861.1:c.1921G>C
  • NM_001407862.1:c.1723G>C
  • NM_001407863.1:c.1801G>C
  • NM_001407874.1:c.1720G>C
  • NM_001407875.1:c.1720G>C
  • NM_001407879.1:c.1714G>C
  • NM_001407881.1:c.1714G>C
  • NM_001407882.1:c.1714G>C
  • NM_001407884.1:c.1714G>C
  • NM_001407885.1:c.1714G>C
  • NM_001407886.1:c.1714G>C
  • NM_001407887.1:c.1714G>C
  • NM_001407889.1:c.1714G>C
  • NM_001407894.1:c.1711G>C
  • NM_001407895.1:c.1711G>C
  • NM_001407896.1:c.1711G>C
  • NM_001407897.1:c.1711G>C
  • NM_001407898.1:c.1711G>C
  • NM_001407899.1:c.1711G>C
  • NM_001407900.1:c.1714G>C
  • NM_001407902.1:c.1714G>C
  • NM_001407904.1:c.1714G>C
  • NM_001407906.1:c.1714G>C
  • NM_001407907.1:c.1714G>C
  • NM_001407908.1:c.1714G>C
  • NM_001407909.1:c.1714G>C
  • NM_001407910.1:c.1714G>C
  • NM_001407915.1:c.1711G>C
  • NM_001407916.1:c.1711G>C
  • NM_001407917.1:c.1711G>C
  • NM_001407918.1:c.1711G>C
  • NM_001407919.1:c.1801G>C
  • NM_001407920.1:c.1660G>C
  • NM_001407921.1:c.1660G>C
  • NM_001407922.1:c.1660G>C
  • NM_001407923.1:c.1660G>C
  • NM_001407924.1:c.1660G>C
  • NM_001407925.1:c.1660G>C
  • NM_001407926.1:c.1660G>C
  • NM_001407927.1:c.1660G>C
  • NM_001407928.1:c.1660G>C
  • NM_001407929.1:c.1660G>C
  • NM_001407930.1:c.1657G>C
  • NM_001407931.1:c.1657G>C
  • NM_001407932.1:c.1657G>C
  • NM_001407933.1:c.1660G>C
  • NM_001407934.1:c.1657G>C
  • NM_001407935.1:c.1660G>C
  • NM_001407936.1:c.1657G>C
  • NM_001407937.1:c.1801G>C
  • NM_001407938.1:c.1801G>C
  • NM_001407939.1:c.1801G>C
  • NM_001407940.1:c.1798G>C
  • NM_001407941.1:c.1798G>C
  • NM_001407942.1:c.1783G>C
  • NM_001407943.1:c.1780G>C
  • NM_001407944.1:c.1783G>C
  • NM_001407945.1:c.1783G>C
  • NM_001407946.1:c.1591G>C
  • NM_001407947.1:c.1591G>C
  • NM_001407948.1:c.1591G>C
  • NM_001407949.1:c.1591G>C
  • NM_001407950.1:c.1591G>C
  • NM_001407951.1:c.1591G>C
  • NM_001407952.1:c.1591G>C
  • NM_001407953.1:c.1591G>C
  • NM_001407954.1:c.1588G>C
  • NM_001407955.1:c.1588G>C
  • NM_001407956.1:c.1588G>C
  • NM_001407957.1:c.1591G>C
  • NM_001407958.1:c.1588G>C
  • NM_001407959.1:c.1543G>C
  • NM_001407960.1:c.1543G>C
  • NM_001407962.1:c.1540G>C
  • NM_001407963.1:c.1543G>C
  • NM_001407964.1:c.1780G>C
  • NM_001407965.1:c.1420G>C
  • NM_001407966.1:c.1036G>C
  • NM_001407967.1:c.1036G>C
  • NM_001407968.1:c.787+1137G>C
  • NM_001407969.1:c.787+1137G>C
  • NM_001407970.1:c.787+1137G>C
  • NM_001407971.1:c.787+1137G>C
  • NM_001407972.1:c.784+1137G>C
  • NM_001407973.1:c.787+1137G>C
  • NM_001407974.1:c.787+1137G>C
  • NM_001407975.1:c.787+1137G>C
  • NM_001407976.1:c.787+1137G>C
  • NM_001407977.1:c.787+1137G>C
  • NM_001407978.1:c.787+1137G>C
  • NM_001407979.1:c.787+1137G>C
  • NM_001407980.1:c.787+1137G>C
  • NM_001407981.1:c.787+1137G>C
  • NM_001407982.1:c.787+1137G>C
  • NM_001407983.1:c.787+1137G>C
  • NM_001407984.1:c.784+1137G>C
  • NM_001407985.1:c.784+1137G>C
  • NM_001407986.1:c.784+1137G>C
  • NM_001407990.1:c.787+1137G>C
  • NM_001407991.1:c.784+1137G>C
  • NM_001407992.1:c.784+1137G>C
  • NM_001407993.1:c.787+1137G>C
  • NM_001408392.1:c.784+1137G>C
  • NM_001408396.1:c.784+1137G>C
  • NM_001408397.1:c.784+1137G>C
  • NM_001408398.1:c.784+1137G>C
  • NM_001408399.1:c.784+1137G>C
  • NM_001408400.1:c.784+1137G>C
  • NM_001408401.1:c.784+1137G>C
  • NM_001408402.1:c.784+1137G>C
  • NM_001408403.1:c.787+1137G>C
  • NM_001408404.1:c.787+1137G>C
  • NM_001408406.1:c.790+1134G>C
  • NM_001408407.1:c.784+1137G>C
  • NM_001408408.1:c.778+1137G>C
  • NM_001408409.1:c.709+1137G>C
  • NM_001408410.1:c.646+1137G>C
  • NM_001408411.1:c.709+1137G>C
  • NM_001408412.1:c.709+1137G>C
  • NM_001408413.1:c.706+1137G>C
  • NM_001408414.1:c.709+1137G>C
  • NM_001408415.1:c.709+1137G>C
  • NM_001408416.1:c.706+1137G>C
  • NM_001408418.1:c.670+2239G>C
  • NM_001408419.1:c.670+2239G>C
  • NM_001408420.1:c.670+2239G>C
  • NM_001408421.1:c.667+2239G>C
  • NM_001408422.1:c.670+2239G>C
  • NM_001408423.1:c.670+2239G>C
  • NM_001408424.1:c.667+2239G>C
  • NM_001408425.1:c.664+1137G>C
  • NM_001408426.1:c.664+1137G>C
  • NM_001408427.1:c.664+1137G>C
  • NM_001408428.1:c.664+1137G>C
  • NM_001408429.1:c.664+1137G>C
  • NM_001408430.1:c.664+1137G>C
  • NM_001408431.1:c.667+2239G>C
  • NM_001408432.1:c.661+1137G>C
  • NM_001408433.1:c.661+1137G>C
  • NM_001408434.1:c.661+1137G>C
  • NM_001408435.1:c.661+1137G>C
  • NM_001408436.1:c.664+1137G>C
  • NM_001408437.1:c.664+1137G>C
  • NM_001408438.1:c.664+1137G>C
  • NM_001408439.1:c.664+1137G>C
  • NM_001408440.1:c.664+1137G>C
  • NM_001408441.1:c.664+1137G>C
  • NM_001408442.1:c.664+1137G>C
  • NM_001408443.1:c.664+1137G>C
  • NM_001408444.1:c.664+1137G>C
  • NM_001408445.1:c.661+1137G>C
  • NM_001408446.1:c.661+1137G>C
  • NM_001408447.1:c.661+1137G>C
  • NM_001408448.1:c.661+1137G>C
  • NM_001408450.1:c.661+1137G>C
  • NM_001408451.1:c.652+1137G>C
  • NM_001408452.1:c.646+1137G>C
  • NM_001408453.1:c.646+1137G>C
  • NM_001408454.1:c.646+1137G>C
  • NM_001408455.1:c.646+1137G>C
  • NM_001408456.1:c.646+1137G>C
  • NM_001408457.1:c.646+1137G>C
  • NM_001408458.1:c.646+1137G>C
  • NM_001408459.1:c.646+1137G>C
  • NM_001408460.1:c.646+1137G>C
  • NM_001408461.1:c.646+1137G>C
  • NM_001408462.1:c.643+1137G>C
  • NM_001408463.1:c.643+1137G>C
  • NM_001408464.1:c.643+1137G>C
  • NM_001408465.1:c.643+1137G>C
  • NM_001408466.1:c.646+1137G>C
  • NM_001408467.1:c.646+1137G>C
  • NM_001408468.1:c.643+1137G>C
  • NM_001408469.1:c.646+1137G>C
  • NM_001408470.1:c.643+1137G>C
  • NM_001408472.1:c.787+1137G>C
  • NM_001408473.1:c.784+1137G>C
  • NM_001408474.1:c.586+1137G>C
  • NM_001408475.1:c.583+1137G>C
  • NM_001408476.1:c.586+1137G>C
  • NM_001408478.1:c.577+1137G>C
  • NM_001408479.1:c.577+1137G>C
  • NM_001408480.1:c.577+1137G>C
  • NM_001408481.1:c.577+1137G>C
  • NM_001408482.1:c.577+1137G>C
  • NM_001408483.1:c.577+1137G>C
  • NM_001408484.1:c.577+1137G>C
  • NM_001408485.1:c.577+1137G>C
  • NM_001408489.1:c.577+1137G>C
  • NM_001408490.1:c.574+1137G>C
  • NM_001408491.1:c.574+1137G>C
  • NM_001408492.1:c.577+1137G>C
  • NM_001408493.1:c.574+1137G>C
  • NM_001408494.1:c.548-2575G>C
  • NM_001408495.1:c.545-2575G>C
  • NM_001408496.1:c.523+1137G>C
  • NM_001408497.1:c.523+1137G>C
  • NM_001408498.1:c.523+1137G>C
  • NM_001408499.1:c.523+1137G>C
  • NM_001408500.1:c.523+1137G>C
  • NM_001408501.1:c.523+1137G>C
  • NM_001408502.1:c.454+1137G>C
  • NM_001408503.1:c.520+1137G>C
  • NM_001408504.1:c.520+1137G>C
  • NM_001408505.1:c.520+1137G>C
  • NM_001408506.1:c.460+2239G>C
  • NM_001408507.1:c.460+2239G>C
  • NM_001408508.1:c.451+1137G>C
  • NM_001408509.1:c.451+1137G>C
  • NM_001408510.1:c.406+1137G>C
  • NM_001408511.1:c.404-2575G>C
  • NM_001408512.1:c.283+1137G>C
  • NM_001408513.1:c.577+1137G>C
  • NM_001408514.1:c.577+1137G>C
  • NM_007294.4:c.1924G>CMANE SELECT
  • NM_007297.4:c.1783G>C
  • NM_007298.4:c.787+1137G>C
  • NM_007299.4:c.787+1137G>C
  • NM_007300.4:c.1924G>C
  • NP_001394500.1:p.Asp571His
  • NP_001394510.1:p.Asp642His
  • NP_001394511.1:p.Asp642His
  • NP_001394512.1:p.Asp642His
  • NP_001394514.1:p.Asp642His
  • NP_001394516.1:p.Asp641His
  • NP_001394519.1:p.Asp641His
  • NP_001394520.1:p.Asp641His
  • NP_001394522.1:p.Asp642His
  • NP_001394523.1:p.Asp642His
  • NP_001394525.1:p.Asp642His
  • NP_001394526.1:p.Asp642His
  • NP_001394527.1:p.Asp642His
  • NP_001394531.1:p.Asp642His
  • NP_001394532.1:p.Asp642His
  • NP_001394534.1:p.Asp642His
  • NP_001394539.1:p.Asp641His
  • NP_001394540.1:p.Asp641His
  • NP_001394541.1:p.Asp641His
  • NP_001394542.1:p.Asp641His
  • NP_001394543.1:p.Asp641His
  • NP_001394544.1:p.Asp641His
  • NP_001394545.1:p.Asp642His
  • NP_001394546.1:p.Asp642His
  • NP_001394547.1:p.Asp642His
  • NP_001394548.1:p.Asp642His
  • NP_001394549.1:p.Asp642His
  • NP_001394550.1:p.Asp642His
  • NP_001394551.1:p.Asp642His
  • NP_001394552.1:p.Asp642His
  • NP_001394553.1:p.Asp642His
  • NP_001394554.1:p.Asp642His
  • NP_001394555.1:p.Asp642His
  • NP_001394556.1:p.Asp641His
  • NP_001394557.1:p.Asp641His
  • NP_001394558.1:p.Asp641His
  • NP_001394559.1:p.Asp641His
  • NP_001394560.1:p.Asp641His
  • NP_001394561.1:p.Asp641His
  • NP_001394562.1:p.Asp641His
  • NP_001394563.1:p.Asp641His
  • NP_001394564.1:p.Asp641His
  • NP_001394565.1:p.Asp641His
  • NP_001394566.1:p.Asp641His
  • NP_001394567.1:p.Asp641His
  • NP_001394568.1:p.Asp642His
  • NP_001394569.1:p.Asp642His
  • NP_001394570.1:p.Asp642His
  • NP_001394571.1:p.Asp642His
  • NP_001394573.1:p.Asp641His
  • NP_001394574.1:p.Asp641His
  • NP_001394575.1:p.Asp639His
  • NP_001394576.1:p.Asp639His
  • NP_001394577.1:p.Asp601His
  • NP_001394578.1:p.Asp600His
  • NP_001394581.1:p.Asp642His
  • NP_001394582.1:p.Asp616His
  • NP_001394583.1:p.Asp616His
  • NP_001394584.1:p.Asp616His
  • NP_001394585.1:p.Asp616His
  • NP_001394586.1:p.Asp616His
  • NP_001394587.1:p.Asp616His
  • NP_001394588.1:p.Asp615His
  • NP_001394589.1:p.Asp615His
  • NP_001394590.1:p.Asp615His
  • NP_001394591.1:p.Asp615His
  • NP_001394592.1:p.Asp616His
  • NP_001394593.1:p.Asp601His
  • NP_001394594.1:p.Asp601His
  • NP_001394595.1:p.Asp601His
  • NP_001394596.1:p.Asp601His
  • NP_001394597.1:p.Asp601His
  • NP_001394598.1:p.Asp601His
  • NP_001394599.1:p.Asp600His
  • NP_001394600.1:p.Asp600His
  • NP_001394601.1:p.Asp600His
  • NP_001394602.1:p.Asp600His
  • NP_001394603.1:p.Asp601His
  • NP_001394604.1:p.Asp601His
  • NP_001394605.1:p.Asp601His
  • NP_001394606.1:p.Asp601His
  • NP_001394607.1:p.Asp601His
  • NP_001394608.1:p.Asp601His
  • NP_001394609.1:p.Asp601His
  • NP_001394610.1:p.Asp601His
  • NP_001394611.1:p.Asp601His
  • NP_001394612.1:p.Asp601His
  • NP_001394613.1:p.Asp642His
  • NP_001394614.1:p.Asp600His
  • NP_001394615.1:p.Asp600His
  • NP_001394616.1:p.Asp600His
  • NP_001394617.1:p.Asp600His
  • NP_001394618.1:p.Asp600His
  • NP_001394619.1:p.Asp600His
  • NP_001394620.1:p.Asp600His
  • NP_001394621.1:p.Asp595His
  • NP_001394623.1:p.Asp595His
  • NP_001394624.1:p.Asp595His
  • NP_001394625.1:p.Asp595His
  • NP_001394626.1:p.Asp595His
  • NP_001394627.1:p.Asp595His
  • NP_001394653.1:p.Asp595His
  • NP_001394654.1:p.Asp595His
  • NP_001394655.1:p.Asp595His
  • NP_001394656.1:p.Asp595His
  • NP_001394657.1:p.Asp595His
  • NP_001394658.1:p.Asp595His
  • NP_001394659.1:p.Asp595His
  • NP_001394660.1:p.Asp595His
  • NP_001394661.1:p.Asp595His
  • NP_001394662.1:p.Asp595His
  • NP_001394663.1:p.Asp595His
  • NP_001394664.1:p.Asp595His
  • NP_001394665.1:p.Asp595His
  • NP_001394666.1:p.Asp595His
  • NP_001394667.1:p.Asp595His
  • NP_001394668.1:p.Asp595His
  • NP_001394669.1:p.Asp594His
  • NP_001394670.1:p.Asp594His
  • NP_001394671.1:p.Asp594His
  • NP_001394672.1:p.Asp594His
  • NP_001394673.1:p.Asp594His
  • NP_001394674.1:p.Asp594His
  • NP_001394675.1:p.Asp594His
  • NP_001394676.1:p.Asp594His
  • NP_001394677.1:p.Asp594His
  • NP_001394678.1:p.Asp594His
  • NP_001394679.1:p.Asp595His
  • NP_001394680.1:p.Asp595His
  • NP_001394681.1:p.Asp595His
  • NP_001394767.1:p.Asp594His
  • NP_001394768.1:p.Asp594His
  • NP_001394770.1:p.Asp594His
  • NP_001394771.1:p.Asp594His
  • NP_001394772.1:p.Asp594His
  • NP_001394773.1:p.Asp594His
  • NP_001394774.1:p.Asp594His
  • NP_001394775.1:p.Asp594His
  • NP_001394776.1:p.Asp594His
  • NP_001394777.1:p.Asp594His
  • NP_001394778.1:p.Asp594His
  • NP_001394779.1:p.Asp595His
  • NP_001394780.1:p.Asp595His
  • NP_001394781.1:p.Asp595His
  • NP_001394782.1:p.Asp571His
  • NP_001394783.1:p.Asp642His
  • NP_001394787.1:p.Asp642His
  • NP_001394788.1:p.Asp642His
  • NP_001394789.1:p.Asp641His
  • NP_001394790.1:p.Asp641His
  • NP_001394791.1:p.Asp575His
  • NP_001394792.1:p.Asp601His
  • NP_001394803.1:p.Asp574His
  • NP_001394804.1:p.Asp574His
  • NP_001394808.1:p.Asp572His
  • NP_001394810.1:p.Asp572His
  • NP_001394811.1:p.Asp572His
  • NP_001394813.1:p.Asp572His
  • NP_001394814.1:p.Asp572His
  • NP_001394815.1:p.Asp572His
  • NP_001394816.1:p.Asp572His
  • NP_001394818.1:p.Asp572His
  • NP_001394823.1:p.Asp571His
  • NP_001394824.1:p.Asp571His
  • NP_001394825.1:p.Asp571His
  • NP_001394826.1:p.Asp571His
  • NP_001394827.1:p.Asp571His
  • NP_001394828.1:p.Asp571His
  • NP_001394829.1:p.Asp572His
  • NP_001394831.1:p.Asp572His
  • NP_001394833.1:p.Asp572His
  • NP_001394835.1:p.Asp572His
  • NP_001394836.1:p.Asp572His
  • NP_001394837.1:p.Asp572His
  • NP_001394838.1:p.Asp572His
  • NP_001394839.1:p.Asp572His
  • NP_001394844.1:p.Asp571His
  • NP_001394845.1:p.Asp571His
  • NP_001394846.1:p.Asp571His
  • NP_001394847.1:p.Asp571His
  • NP_001394848.1:p.Asp601His
  • NP_001394849.1:p.Asp554His
  • NP_001394850.1:p.Asp554His
  • NP_001394851.1:p.Asp554His
  • NP_001394852.1:p.Asp554His
  • NP_001394853.1:p.Asp554His
  • NP_001394854.1:p.Asp554His
  • NP_001394855.1:p.Asp554His
  • NP_001394856.1:p.Asp554His
  • NP_001394857.1:p.Asp554His
  • NP_001394858.1:p.Asp554His
  • NP_001394859.1:p.Asp553His
  • NP_001394860.1:p.Asp553His
  • NP_001394861.1:p.Asp553His
  • NP_001394862.1:p.Asp554His
  • NP_001394863.1:p.Asp553His
  • NP_001394864.1:p.Asp554His
  • NP_001394865.1:p.Asp553His
  • NP_001394866.1:p.Asp601His
  • NP_001394867.1:p.Asp601His
  • NP_001394868.1:p.Asp601His
  • NP_001394869.1:p.Asp600His
  • NP_001394870.1:p.Asp600His
  • NP_001394871.1:p.Asp595His
  • NP_001394872.1:p.Asp594His
  • NP_001394873.1:p.Asp595His
  • NP_001394874.1:p.Asp595His
  • NP_001394875.1:p.Asp531His
  • NP_001394876.1:p.Asp531His
  • NP_001394877.1:p.Asp531His
  • NP_001394878.1:p.Asp531His
  • NP_001394879.1:p.Asp531His
  • NP_001394880.1:p.Asp531His
  • NP_001394881.1:p.Asp531His
  • NP_001394882.1:p.Asp531His
  • NP_001394883.1:p.Asp530His
  • NP_001394884.1:p.Asp530His
  • NP_001394885.1:p.Asp530His
  • NP_001394886.1:p.Asp531His
  • NP_001394887.1:p.Asp530His
  • NP_001394888.1:p.Asp515His
  • NP_001394889.1:p.Asp515His
  • NP_001394891.1:p.Asp514His
  • NP_001394892.1:p.Asp515His
  • NP_001394893.1:p.Asp594His
  • NP_001394894.1:p.Asp474His
  • NP_001394895.1:p.Asp346His
  • NP_001394896.1:p.Asp346His
  • NP_009225.1:p.Asp642His
  • NP_009225.1:p.Asp642His
  • NP_009228.2:p.Asp595His
  • NP_009231.2:p.Asp642His
  • LRG_292t1:c.1924G>C
  • LRG_292:g.124377G>C
  • LRG_292p1:p.Asp642His
  • NC_000017.10:g.41245624C>G
  • NM_007294.3:c.1924G>C
  • NR_027676.1:n.2060G>C
  • U14680.1:n.2043G>C
  • p.D642H
Protein change:
D346H
Links:
BRCA1-HCI: BRCA1_00066; dbSNP: rs80357344
NCBI 1000 Genomes Browser:
rs80357344
Molecular consequence:
  • NM_001407968.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1134G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+2239G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+2239G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+2239G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+2239G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+2239G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+2239G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+2239G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+2239G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2575G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2575G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+2239G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+2239G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2575G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1137G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.1915G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.1915G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1843G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1843G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1843G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1843G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1723G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1720G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1720G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1657G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1657G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1657G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1657G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1657G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1591G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1591G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1591G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1591G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1591G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1591G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1591G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1591G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1588G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1588G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1588G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1591G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1588G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1543G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1543G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1543G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1420G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.1036G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.1036G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1924G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000518067GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Jul 7, 2015) 		germlineclinical testing

Citation Link,

SCV001623213Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Apr 30, 2021) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV002064764Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 10, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]
PMID:
16267036

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.

Hum Mutat. 2012 Jan;33(1):8-21. doi: 10.1002/humu.21627. Epub 2011 Nov 3. Review.

PubMed [citation]
PMID:
21990134
PMCID:
PMC3242438
See all PubMed Citations (3)

Details of each submission

From GeneDx, SCV000518067.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001623213.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: BRCA1 c.1924G>C (p.Asp642His) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251006 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1924G>C has been reported in the literature as a VUS in individuals undergoing clinical genetic testing for breast cancer (example Judkins_2005). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. Subsequently, studies utilizing multifactorial probability models have reported this variant with a neutral outcome based on a low posterior probability of pathogenicity (example, Lindor_2012). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five clinical diagnostic laboratories and an expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All submitters classified the variant as likely benign. Based on peer consensus and the evidence outlined above, the variant was classified as likely benign.

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

From Genetic Services Laboratory, University of Chicago, SCV002064764.1

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

Description

DNA sequence analysis of the BRCA1 gene demonstrated a sequence change, c.1924G>C, in exon 10 that results in an amino acid change, p.Asp642His. This sequence change does not appear to have been previously described in patients with BRCA1-related disorders. This sequence change was absent in the gnomAD database (dbSNP rs80357344). The p.Asp642His change affects a moderately conserved amino acid residue located in the DNA binding domain of the BRCA1 protein. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Asp642His substitution. Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Asp642His change remains unknown at this time.

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

Last Updated: Oct 13, 2024