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NM_007294.4(BRCA1):c.2268G>T (p.Arg756Ser) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 13, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001043803.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.2268G>T (p.Arg756Ser)]

NM_007294.4(BRCA1):c.2268G>T (p.Arg756Ser)

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.2268G>T (p.Arg756Ser)
HGVS:
  • NC_000017.11:g.43093263C>A
  • NG_005905.2:g.124721G>T
  • NM_001407571.1:c.2055G>T
  • NM_001407581.1:c.2268G>T
  • NM_001407582.1:c.2268G>T
  • NM_001407583.1:c.2268G>T
  • NM_001407585.1:c.2268G>T
  • NM_001407587.1:c.2265G>T
  • NM_001407590.1:c.2265G>T
  • NM_001407591.1:c.2265G>T
  • NM_001407593.1:c.2268G>T
  • NM_001407594.1:c.2268G>T
  • NM_001407596.1:c.2268G>T
  • NM_001407597.1:c.2268G>T
  • NM_001407598.1:c.2268G>T
  • NM_001407602.1:c.2268G>T
  • NM_001407603.1:c.2268G>T
  • NM_001407605.1:c.2268G>T
  • NM_001407610.1:c.2265G>T
  • NM_001407611.1:c.2265G>T
  • NM_001407612.1:c.2265G>T
  • NM_001407613.1:c.2265G>T
  • NM_001407614.1:c.2265G>T
  • NM_001407615.1:c.2265G>T
  • NM_001407616.1:c.2268G>T
  • NM_001407617.1:c.2268G>T
  • NM_001407618.1:c.2268G>T
  • NM_001407619.1:c.2268G>T
  • NM_001407620.1:c.2268G>T
  • NM_001407621.1:c.2268G>T
  • NM_001407622.1:c.2268G>T
  • NM_001407623.1:c.2268G>T
  • NM_001407624.1:c.2268G>T
  • NM_001407625.1:c.2268G>T
  • NM_001407626.1:c.2268G>T
  • NM_001407627.1:c.2265G>T
  • NM_001407628.1:c.2265G>T
  • NM_001407629.1:c.2265G>T
  • NM_001407630.1:c.2265G>T
  • NM_001407631.1:c.2265G>T
  • NM_001407632.1:c.2265G>T
  • NM_001407633.1:c.2265G>T
  • NM_001407634.1:c.2265G>T
  • NM_001407635.1:c.2265G>T
  • NM_001407636.1:c.2265G>T
  • NM_001407637.1:c.2265G>T
  • NM_001407638.1:c.2265G>T
  • NM_001407639.1:c.2268G>T
  • NM_001407640.1:c.2268G>T
  • NM_001407641.1:c.2268G>T
  • NM_001407642.1:c.2268G>T
  • NM_001407644.1:c.2265G>T
  • NM_001407645.1:c.2265G>T
  • NM_001407646.1:c.2259G>T
  • NM_001407647.1:c.2259G>T
  • NM_001407648.1:c.2145G>T
  • NM_001407649.1:c.2142G>T
  • NM_001407652.1:c.2268G>T
  • NM_001407653.1:c.2190G>T
  • NM_001407654.1:c.2190G>T
  • NM_001407655.1:c.2190G>T
  • NM_001407656.1:c.2190G>T
  • NM_001407657.1:c.2190G>T
  • NM_001407658.1:c.2190G>T
  • NM_001407659.1:c.2187G>T
  • NM_001407660.1:c.2187G>T
  • NM_001407661.1:c.2187G>T
  • NM_001407662.1:c.2187G>T
  • NM_001407663.1:c.2190G>T
  • NM_001407664.1:c.2145G>T
  • NM_001407665.1:c.2145G>T
  • NM_001407666.1:c.2145G>T
  • NM_001407667.1:c.2145G>T
  • NM_001407668.1:c.2145G>T
  • NM_001407669.1:c.2145G>T
  • NM_001407670.1:c.2142G>T
  • NM_001407671.1:c.2142G>T
  • NM_001407672.1:c.2142G>T
  • NM_001407673.1:c.2142G>T
  • NM_001407674.1:c.2145G>T
  • NM_001407675.1:c.2145G>T
  • NM_001407676.1:c.2145G>T
  • NM_001407677.1:c.2145G>T
  • NM_001407678.1:c.2145G>T
  • NM_001407679.1:c.2145G>T
  • NM_001407680.1:c.2145G>T
  • NM_001407681.1:c.2145G>T
  • NM_001407682.1:c.2145G>T
  • NM_001407683.1:c.2145G>T
  • NM_001407684.1:c.2268G>T
  • NM_001407685.1:c.2142G>T
  • NM_001407686.1:c.2142G>T
  • NM_001407687.1:c.2142G>T
  • NM_001407688.1:c.2142G>T
  • NM_001407689.1:c.2142G>T
  • NM_001407690.1:c.2142G>T
  • NM_001407691.1:c.2142G>T
  • NM_001407692.1:c.2127G>T
  • NM_001407694.1:c.2127G>T
  • NM_001407695.1:c.2127G>T
  • NM_001407696.1:c.2127G>T
  • NM_001407697.1:c.2127G>T
  • NM_001407698.1:c.2127G>T
  • NM_001407724.1:c.2127G>T
  • NM_001407725.1:c.2127G>T
  • NM_001407726.1:c.2127G>T
  • NM_001407727.1:c.2127G>T
  • NM_001407728.1:c.2127G>T
  • NM_001407729.1:c.2127G>T
  • NM_001407730.1:c.2127G>T
  • NM_001407731.1:c.2127G>T
  • NM_001407732.1:c.2127G>T
  • NM_001407733.1:c.2127G>T
  • NM_001407734.1:c.2127G>T
  • NM_001407735.1:c.2127G>T
  • NM_001407736.1:c.2127G>T
  • NM_001407737.1:c.2127G>T
  • NM_001407738.1:c.2127G>T
  • NM_001407739.1:c.2127G>T
  • NM_001407740.1:c.2124G>T
  • NM_001407741.1:c.2124G>T
  • NM_001407742.1:c.2124G>T
  • NM_001407743.1:c.2124G>T
  • NM_001407744.1:c.2124G>T
  • NM_001407745.1:c.2124G>T
  • NM_001407746.1:c.2124G>T
  • NM_001407747.1:c.2124G>T
  • NM_001407748.1:c.2124G>T
  • NM_001407749.1:c.2124G>T
  • NM_001407750.1:c.2127G>T
  • NM_001407751.1:c.2127G>T
  • NM_001407752.1:c.2127G>T
  • NM_001407838.1:c.2124G>T
  • NM_001407839.1:c.2124G>T
  • NM_001407841.1:c.2124G>T
  • NM_001407842.1:c.2124G>T
  • NM_001407843.1:c.2124G>T
  • NM_001407844.1:c.2124G>T
  • NM_001407845.1:c.2124G>T
  • NM_001407846.1:c.2124G>T
  • NM_001407847.1:c.2124G>T
  • NM_001407848.1:c.2124G>T
  • NM_001407849.1:c.2124G>T
  • NM_001407850.1:c.2127G>T
  • NM_001407851.1:c.2127G>T
  • NM_001407852.1:c.2127G>T
  • NM_001407853.1:c.2055G>T
  • NM_001407854.1:c.2268G>T
  • NM_001407858.1:c.2268G>T
  • NM_001407859.1:c.2268G>T
  • NM_001407860.1:c.2265G>T
  • NM_001407861.1:c.2265G>T
  • NM_001407862.1:c.2067G>T
  • NM_001407863.1:c.2145G>T
  • NM_001407874.1:c.2064G>T
  • NM_001407875.1:c.2064G>T
  • NM_001407879.1:c.2058G>T
  • NM_001407881.1:c.2058G>T
  • NM_001407882.1:c.2058G>T
  • NM_001407884.1:c.2058G>T
  • NM_001407885.1:c.2058G>T
  • NM_001407886.1:c.2058G>T
  • NM_001407887.1:c.2058G>T
  • NM_001407889.1:c.2058G>T
  • NM_001407894.1:c.2055G>T
  • NM_001407895.1:c.2055G>T
  • NM_001407896.1:c.2055G>T
  • NM_001407897.1:c.2055G>T
  • NM_001407898.1:c.2055G>T
  • NM_001407899.1:c.2055G>T
  • NM_001407900.1:c.2058G>T
  • NM_001407902.1:c.2058G>T
  • NM_001407904.1:c.2058G>T
  • NM_001407906.1:c.2058G>T
  • NM_001407907.1:c.2058G>T
  • NM_001407908.1:c.2058G>T
  • NM_001407909.1:c.2058G>T
  • NM_001407910.1:c.2058G>T
  • NM_001407915.1:c.2055G>T
  • NM_001407916.1:c.2055G>T
  • NM_001407917.1:c.2055G>T
  • NM_001407918.1:c.2055G>T
  • NM_001407919.1:c.2145G>T
  • NM_001407920.1:c.2004G>T
  • NM_001407921.1:c.2004G>T
  • NM_001407922.1:c.2004G>T
  • NM_001407923.1:c.2004G>T
  • NM_001407924.1:c.2004G>T
  • NM_001407925.1:c.2004G>T
  • NM_001407926.1:c.2004G>T
  • NM_001407927.1:c.2004G>T
  • NM_001407928.1:c.2004G>T
  • NM_001407929.1:c.2004G>T
  • NM_001407930.1:c.2001G>T
  • NM_001407931.1:c.2001G>T
  • NM_001407932.1:c.2001G>T
  • NM_001407933.1:c.2004G>T
  • NM_001407934.1:c.2001G>T
  • NM_001407935.1:c.2004G>T
  • NM_001407936.1:c.2001G>T
  • NM_001407937.1:c.2145G>T
  • NM_001407938.1:c.2145G>T
  • NM_001407939.1:c.2145G>T
  • NM_001407940.1:c.2142G>T
  • NM_001407941.1:c.2142G>T
  • NM_001407942.1:c.2127G>T
  • NM_001407943.1:c.2124G>T
  • NM_001407944.1:c.2127G>T
  • NM_001407945.1:c.2127G>T
  • NM_001407946.1:c.1935G>T
  • NM_001407947.1:c.1935G>T
  • NM_001407948.1:c.1935G>T
  • NM_001407949.1:c.1935G>T
  • NM_001407950.1:c.1935G>T
  • NM_001407951.1:c.1935G>T
  • NM_001407952.1:c.1935G>T
  • NM_001407953.1:c.1935G>T
  • NM_001407954.1:c.1932G>T
  • NM_001407955.1:c.1932G>T
  • NM_001407956.1:c.1932G>T
  • NM_001407957.1:c.1935G>T
  • NM_001407958.1:c.1932G>T
  • NM_001407959.1:c.1887G>T
  • NM_001407960.1:c.1887G>T
  • NM_001407962.1:c.1884G>T
  • NM_001407963.1:c.1887G>T
  • NM_001407964.1:c.2124G>T
  • NM_001407965.1:c.1764G>T
  • NM_001407966.1:c.1380G>T
  • NM_001407967.1:c.1380G>T
  • NM_001407968.1:c.788-1124G>T
  • NM_001407969.1:c.788-1124G>T
  • NM_001407970.1:c.787+1481G>T
  • NM_001407971.1:c.787+1481G>T
  • NM_001407972.1:c.784+1481G>T
  • NM_001407973.1:c.787+1481G>T
  • NM_001407974.1:c.787+1481G>T
  • NM_001407975.1:c.787+1481G>T
  • NM_001407976.1:c.787+1481G>T
  • NM_001407977.1:c.787+1481G>T
  • NM_001407978.1:c.787+1481G>T
  • NM_001407979.1:c.787+1481G>T
  • NM_001407980.1:c.787+1481G>T
  • NM_001407981.1:c.787+1481G>T
  • NM_001407982.1:c.787+1481G>T
  • NM_001407983.1:c.787+1481G>T
  • NM_001407984.1:c.784+1481G>T
  • NM_001407985.1:c.784+1481G>T
  • NM_001407986.1:c.784+1481G>T
  • NM_001407990.1:c.787+1481G>T
  • NM_001407991.1:c.784+1481G>T
  • NM_001407992.1:c.784+1481G>T
  • NM_001407993.1:c.787+1481G>T
  • NM_001408392.1:c.784+1481G>T
  • NM_001408396.1:c.784+1481G>T
  • NM_001408397.1:c.784+1481G>T
  • NM_001408398.1:c.784+1481G>T
  • NM_001408399.1:c.784+1481G>T
  • NM_001408400.1:c.784+1481G>T
  • NM_001408401.1:c.784+1481G>T
  • NM_001408402.1:c.784+1481G>T
  • NM_001408403.1:c.787+1481G>T
  • NM_001408404.1:c.787+1481G>T
  • NM_001408406.1:c.790+1478G>T
  • NM_001408407.1:c.784+1481G>T
  • NM_001408408.1:c.778+1481G>T
  • NM_001408409.1:c.709+1481G>T
  • NM_001408410.1:c.646+1481G>T
  • NM_001408411.1:c.709+1481G>T
  • NM_001408412.1:c.709+1481G>T
  • NM_001408413.1:c.706+1481G>T
  • NM_001408414.1:c.709+1481G>T
  • NM_001408415.1:c.709+1481G>T
  • NM_001408416.1:c.706+1481G>T
  • NM_001408418.1:c.671-2231G>T
  • NM_001408419.1:c.671-2231G>T
  • NM_001408420.1:c.671-2231G>T
  • NM_001408421.1:c.668-2231G>T
  • NM_001408422.1:c.671-2231G>T
  • NM_001408423.1:c.671-2231G>T
  • NM_001408424.1:c.668-2231G>T
  • NM_001408425.1:c.664+1481G>T
  • NM_001408426.1:c.664+1481G>T
  • NM_001408427.1:c.664+1481G>T
  • NM_001408428.1:c.664+1481G>T
  • NM_001408429.1:c.664+1481G>T
  • NM_001408430.1:c.664+1481G>T
  • NM_001408431.1:c.668-2231G>T
  • NM_001408432.1:c.661+1481G>T
  • NM_001408433.1:c.661+1481G>T
  • NM_001408434.1:c.661+1481G>T
  • NM_001408435.1:c.661+1481G>T
  • NM_001408436.1:c.664+1481G>T
  • NM_001408437.1:c.664+1481G>T
  • NM_001408438.1:c.664+1481G>T
  • NM_001408439.1:c.664+1481G>T
  • NM_001408440.1:c.664+1481G>T
  • NM_001408441.1:c.664+1481G>T
  • NM_001408442.1:c.664+1481G>T
  • NM_001408443.1:c.664+1481G>T
  • NM_001408444.1:c.664+1481G>T
  • NM_001408445.1:c.661+1481G>T
  • NM_001408446.1:c.661+1481G>T
  • NM_001408447.1:c.661+1481G>T
  • NM_001408448.1:c.661+1481G>T
  • NM_001408450.1:c.661+1481G>T
  • NM_001408451.1:c.652+1481G>T
  • NM_001408452.1:c.646+1481G>T
  • NM_001408453.1:c.646+1481G>T
  • NM_001408454.1:c.646+1481G>T
  • NM_001408455.1:c.646+1481G>T
  • NM_001408456.1:c.646+1481G>T
  • NM_001408457.1:c.646+1481G>T
  • NM_001408458.1:c.646+1481G>T
  • NM_001408459.1:c.646+1481G>T
  • NM_001408460.1:c.646+1481G>T
  • NM_001408461.1:c.646+1481G>T
  • NM_001408462.1:c.643+1481G>T
  • NM_001408463.1:c.643+1481G>T
  • NM_001408464.1:c.643+1481G>T
  • NM_001408465.1:c.643+1481G>T
  • NM_001408466.1:c.646+1481G>T
  • NM_001408467.1:c.646+1481G>T
  • NM_001408468.1:c.643+1481G>T
  • NM_001408469.1:c.646+1481G>T
  • NM_001408470.1:c.643+1481G>T
  • NM_001408472.1:c.787+1481G>T
  • NM_001408473.1:c.784+1481G>T
  • NM_001408474.1:c.586+1481G>T
  • NM_001408475.1:c.583+1481G>T
  • NM_001408476.1:c.586+1481G>T
  • NM_001408478.1:c.577+1481G>T
  • NM_001408479.1:c.577+1481G>T
  • NM_001408480.1:c.577+1481G>T
  • NM_001408481.1:c.577+1481G>T
  • NM_001408482.1:c.577+1481G>T
  • NM_001408483.1:c.577+1481G>T
  • NM_001408484.1:c.577+1481G>T
  • NM_001408485.1:c.577+1481G>T
  • NM_001408489.1:c.577+1481G>T
  • NM_001408490.1:c.574+1481G>T
  • NM_001408491.1:c.574+1481G>T
  • NM_001408492.1:c.577+1481G>T
  • NM_001408493.1:c.574+1481G>T
  • NM_001408494.1:c.548-2231G>T
  • NM_001408495.1:c.545-2231G>T
  • NM_001408496.1:c.523+1481G>T
  • NM_001408497.1:c.523+1481G>T
  • NM_001408498.1:c.523+1481G>T
  • NM_001408499.1:c.523+1481G>T
  • NM_001408500.1:c.523+1481G>T
  • NM_001408501.1:c.523+1481G>T
  • NM_001408502.1:c.454+1481G>T
  • NM_001408503.1:c.520+1481G>T
  • NM_001408504.1:c.520+1481G>T
  • NM_001408505.1:c.520+1481G>T
  • NM_001408506.1:c.461-2231G>T
  • NM_001408507.1:c.461-2231G>T
  • NM_001408508.1:c.451+1481G>T
  • NM_001408509.1:c.451+1481G>T
  • NM_001408510.1:c.406+1481G>T
  • NM_001408511.1:c.404-2231G>T
  • NM_001408512.1:c.283+1481G>T
  • NM_001408513.1:c.577+1481G>T
  • NM_001408514.1:c.577+1481G>T
  • NM_007294.4:c.2268G>TMANE SELECT
  • NM_007297.4:c.2127G>T
  • NM_007298.4:c.787+1481G>T
  • NM_007299.4:c.787+1481G>T
  • NM_007300.4:c.2268G>T
  • NP_001394500.1:p.Arg685Ser
  • NP_001394510.1:p.Arg756Ser
  • NP_001394511.1:p.Arg756Ser
  • NP_001394512.1:p.Arg756Ser
  • NP_001394514.1:p.Arg756Ser
  • NP_001394516.1:p.Arg755Ser
  • NP_001394519.1:p.Arg755Ser
  • NP_001394520.1:p.Arg755Ser
  • NP_001394522.1:p.Arg756Ser
  • NP_001394523.1:p.Arg756Ser
  • NP_001394525.1:p.Arg756Ser
  • NP_001394526.1:p.Arg756Ser
  • NP_001394527.1:p.Arg756Ser
  • NP_001394531.1:p.Arg756Ser
  • NP_001394532.1:p.Arg756Ser
  • NP_001394534.1:p.Arg756Ser
  • NP_001394539.1:p.Arg755Ser
  • NP_001394540.1:p.Arg755Ser
  • NP_001394541.1:p.Arg755Ser
  • NP_001394542.1:p.Arg755Ser
  • NP_001394543.1:p.Arg755Ser
  • NP_001394544.1:p.Arg755Ser
  • NP_001394545.1:p.Arg756Ser
  • NP_001394546.1:p.Arg756Ser
  • NP_001394547.1:p.Arg756Ser
  • NP_001394548.1:p.Arg756Ser
  • NP_001394549.1:p.Arg756Ser
  • NP_001394550.1:p.Arg756Ser
  • NP_001394551.1:p.Arg756Ser
  • NP_001394552.1:p.Arg756Ser
  • NP_001394553.1:p.Arg756Ser
  • NP_001394554.1:p.Arg756Ser
  • NP_001394555.1:p.Arg756Ser
  • NP_001394556.1:p.Arg755Ser
  • NP_001394557.1:p.Arg755Ser
  • NP_001394558.1:p.Arg755Ser
  • NP_001394559.1:p.Arg755Ser
  • NP_001394560.1:p.Arg755Ser
  • NP_001394561.1:p.Arg755Ser
  • NP_001394562.1:p.Arg755Ser
  • NP_001394563.1:p.Arg755Ser
  • NP_001394564.1:p.Arg755Ser
  • NP_001394565.1:p.Arg755Ser
  • NP_001394566.1:p.Arg755Ser
  • NP_001394567.1:p.Arg755Ser
  • NP_001394568.1:p.Arg756Ser
  • NP_001394569.1:p.Arg756Ser
  • NP_001394570.1:p.Arg756Ser
  • NP_001394571.1:p.Arg756Ser
  • NP_001394573.1:p.Arg755Ser
  • NP_001394574.1:p.Arg755Ser
  • NP_001394575.1:p.Arg753Ser
  • NP_001394576.1:p.Arg753Ser
  • NP_001394577.1:p.Arg715Ser
  • NP_001394578.1:p.Arg714Ser
  • NP_001394581.1:p.Arg756Ser
  • NP_001394582.1:p.Arg730Ser
  • NP_001394583.1:p.Arg730Ser
  • NP_001394584.1:p.Arg730Ser
  • NP_001394585.1:p.Arg730Ser
  • NP_001394586.1:p.Arg730Ser
  • NP_001394587.1:p.Arg730Ser
  • NP_001394588.1:p.Arg729Ser
  • NP_001394589.1:p.Arg729Ser
  • NP_001394590.1:p.Arg729Ser
  • NP_001394591.1:p.Arg729Ser
  • NP_001394592.1:p.Arg730Ser
  • NP_001394593.1:p.Arg715Ser
  • NP_001394594.1:p.Arg715Ser
  • NP_001394595.1:p.Arg715Ser
  • NP_001394596.1:p.Arg715Ser
  • NP_001394597.1:p.Arg715Ser
  • NP_001394598.1:p.Arg715Ser
  • NP_001394599.1:p.Arg714Ser
  • NP_001394600.1:p.Arg714Ser
  • NP_001394601.1:p.Arg714Ser
  • NP_001394602.1:p.Arg714Ser
  • NP_001394603.1:p.Arg715Ser
  • NP_001394604.1:p.Arg715Ser
  • NP_001394605.1:p.Arg715Ser
  • NP_001394606.1:p.Arg715Ser
  • NP_001394607.1:p.Arg715Ser
  • NP_001394608.1:p.Arg715Ser
  • NP_001394609.1:p.Arg715Ser
  • NP_001394610.1:p.Arg715Ser
  • NP_001394611.1:p.Arg715Ser
  • NP_001394612.1:p.Arg715Ser
  • NP_001394613.1:p.Arg756Ser
  • NP_001394614.1:p.Arg714Ser
  • NP_001394615.1:p.Arg714Ser
  • NP_001394616.1:p.Arg714Ser
  • NP_001394617.1:p.Arg714Ser
  • NP_001394618.1:p.Arg714Ser
  • NP_001394619.1:p.Arg714Ser
  • NP_001394620.1:p.Arg714Ser
  • NP_001394621.1:p.Arg709Ser
  • NP_001394623.1:p.Arg709Ser
  • NP_001394624.1:p.Arg709Ser
  • NP_001394625.1:p.Arg709Ser
  • NP_001394626.1:p.Arg709Ser
  • NP_001394627.1:p.Arg709Ser
  • NP_001394653.1:p.Arg709Ser
  • NP_001394654.1:p.Arg709Ser
  • NP_001394655.1:p.Arg709Ser
  • NP_001394656.1:p.Arg709Ser
  • NP_001394657.1:p.Arg709Ser
  • NP_001394658.1:p.Arg709Ser
  • NP_001394659.1:p.Arg709Ser
  • NP_001394660.1:p.Arg709Ser
  • NP_001394661.1:p.Arg709Ser
  • NP_001394662.1:p.Arg709Ser
  • NP_001394663.1:p.Arg709Ser
  • NP_001394664.1:p.Arg709Ser
  • NP_001394665.1:p.Arg709Ser
  • NP_001394666.1:p.Arg709Ser
  • NP_001394667.1:p.Arg709Ser
  • NP_001394668.1:p.Arg709Ser
  • NP_001394669.1:p.Arg708Ser
  • NP_001394670.1:p.Arg708Ser
  • NP_001394671.1:p.Arg708Ser
  • NP_001394672.1:p.Arg708Ser
  • NP_001394673.1:p.Arg708Ser
  • NP_001394674.1:p.Arg708Ser
  • NP_001394675.1:p.Arg708Ser
  • NP_001394676.1:p.Arg708Ser
  • NP_001394677.1:p.Arg708Ser
  • NP_001394678.1:p.Arg708Ser
  • NP_001394679.1:p.Arg709Ser
  • NP_001394680.1:p.Arg709Ser
  • NP_001394681.1:p.Arg709Ser
  • NP_001394767.1:p.Arg708Ser
  • NP_001394768.1:p.Arg708Ser
  • NP_001394770.1:p.Arg708Ser
  • NP_001394771.1:p.Arg708Ser
  • NP_001394772.1:p.Arg708Ser
  • NP_001394773.1:p.Arg708Ser
  • NP_001394774.1:p.Arg708Ser
  • NP_001394775.1:p.Arg708Ser
  • NP_001394776.1:p.Arg708Ser
  • NP_001394777.1:p.Arg708Ser
  • NP_001394778.1:p.Arg708Ser
  • NP_001394779.1:p.Arg709Ser
  • NP_001394780.1:p.Arg709Ser
  • NP_001394781.1:p.Arg709Ser
  • NP_001394782.1:p.Arg685Ser
  • NP_001394783.1:p.Arg756Ser
  • NP_001394787.1:p.Arg756Ser
  • NP_001394788.1:p.Arg756Ser
  • NP_001394789.1:p.Arg755Ser
  • NP_001394790.1:p.Arg755Ser
  • NP_001394791.1:p.Arg689Ser
  • NP_001394792.1:p.Arg715Ser
  • NP_001394803.1:p.Arg688Ser
  • NP_001394804.1:p.Arg688Ser
  • NP_001394808.1:p.Arg686Ser
  • NP_001394810.1:p.Arg686Ser
  • NP_001394811.1:p.Arg686Ser
  • NP_001394813.1:p.Arg686Ser
  • NP_001394814.1:p.Arg686Ser
  • NP_001394815.1:p.Arg686Ser
  • NP_001394816.1:p.Arg686Ser
  • NP_001394818.1:p.Arg686Ser
  • NP_001394823.1:p.Arg685Ser
  • NP_001394824.1:p.Arg685Ser
  • NP_001394825.1:p.Arg685Ser
  • NP_001394826.1:p.Arg685Ser
  • NP_001394827.1:p.Arg685Ser
  • NP_001394828.1:p.Arg685Ser
  • NP_001394829.1:p.Arg686Ser
  • NP_001394831.1:p.Arg686Ser
  • NP_001394833.1:p.Arg686Ser
  • NP_001394835.1:p.Arg686Ser
  • NP_001394836.1:p.Arg686Ser
  • NP_001394837.1:p.Arg686Ser
  • NP_001394838.1:p.Arg686Ser
  • NP_001394839.1:p.Arg686Ser
  • NP_001394844.1:p.Arg685Ser
  • NP_001394845.1:p.Arg685Ser
  • NP_001394846.1:p.Arg685Ser
  • NP_001394847.1:p.Arg685Ser
  • NP_001394848.1:p.Arg715Ser
  • NP_001394849.1:p.Arg668Ser
  • NP_001394850.1:p.Arg668Ser
  • NP_001394851.1:p.Arg668Ser
  • NP_001394852.1:p.Arg668Ser
  • NP_001394853.1:p.Arg668Ser
  • NP_001394854.1:p.Arg668Ser
  • NP_001394855.1:p.Arg668Ser
  • NP_001394856.1:p.Arg668Ser
  • NP_001394857.1:p.Arg668Ser
  • NP_001394858.1:p.Arg668Ser
  • NP_001394859.1:p.Arg667Ser
  • NP_001394860.1:p.Arg667Ser
  • NP_001394861.1:p.Arg667Ser
  • NP_001394862.1:p.Arg668Ser
  • NP_001394863.1:p.Arg667Ser
  • NP_001394864.1:p.Arg668Ser
  • NP_001394865.1:p.Arg667Ser
  • NP_001394866.1:p.Arg715Ser
  • NP_001394867.1:p.Arg715Ser
  • NP_001394868.1:p.Arg715Ser
  • NP_001394869.1:p.Arg714Ser
  • NP_001394870.1:p.Arg714Ser
  • NP_001394871.1:p.Arg709Ser
  • NP_001394872.1:p.Arg708Ser
  • NP_001394873.1:p.Arg709Ser
  • NP_001394874.1:p.Arg709Ser
  • NP_001394875.1:p.Arg645Ser
  • NP_001394876.1:p.Arg645Ser
  • NP_001394877.1:p.Arg645Ser
  • NP_001394878.1:p.Arg645Ser
  • NP_001394879.1:p.Arg645Ser
  • NP_001394880.1:p.Arg645Ser
  • NP_001394881.1:p.Arg645Ser
  • NP_001394882.1:p.Arg645Ser
  • NP_001394883.1:p.Arg644Ser
  • NP_001394884.1:p.Arg644Ser
  • NP_001394885.1:p.Arg644Ser
  • NP_001394886.1:p.Arg645Ser
  • NP_001394887.1:p.Arg644Ser
  • NP_001394888.1:p.Arg629Ser
  • NP_001394889.1:p.Arg629Ser
  • NP_001394891.1:p.Arg628Ser
  • NP_001394892.1:p.Arg629Ser
  • NP_001394893.1:p.Arg708Ser
  • NP_001394894.1:p.Arg588Ser
  • NP_001394895.1:p.Arg460Ser
  • NP_001394896.1:p.Arg460Ser
  • NP_009225.1:p.Arg756Ser
  • NP_009225.1:p.Arg756Ser
  • NP_009228.2:p.Arg709Ser
  • NP_009231.2:p.Arg756Ser
  • LRG_292t1:c.2268G>T
  • LRG_292:g.124721G>T
  • LRG_292p1:p.Arg756Ser
  • NC_000017.10:g.41245280C>A
  • NM_007294.3:c.2268G>T
  • NR_027676.1:n.2404G>T
Protein change:
R460S
Links:
dbSNP: rs80356884
NCBI 1000 Genomes Browser:
rs80356884
Molecular consequence:
  • NM_001407968.1:c.788-1124G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-1124G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1478G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-2231G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-2231G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-2231G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-2231G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-2231G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-2231G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-2231G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-2231G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2231G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2231G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-2231G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-2231G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2231G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1481G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2055G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.2259G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.2259G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.2142G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.2190G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.2190G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.2190G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.2190G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.2190G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.2190G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.2187G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.2187G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.2187G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.2187G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.2190G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.2142G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.2142G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.2142G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.2142G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.2142G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.2142G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.2142G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.2142G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.2142G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.2142G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.2142G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2055G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.2265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.2067G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.2064G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.2064G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2055G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2055G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2055G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2055G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2055G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2055G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2055G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2055G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2055G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2055G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2004G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2004G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2004G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2004G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2004G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2004G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2004G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2004G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2004G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2004G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2001G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2001G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2001G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2004G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2001G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2004G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2001G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.2142G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.2142G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1935G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1935G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1935G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1935G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1935G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1935G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1935G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1935G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1932G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1932G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1932G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1935G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1932G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1887G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1887G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1884G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1887G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.2124G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1764G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.1380G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.1380G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2268G>T - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001207568Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Dec 13, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.

Zhong X, Dong Z, Dong H, Li J, Peng Z, Deng L, Zhu X, Sun Y, Lu X, Shen F, Su X, Zhang L, Gu Y, Zheng H.

PLoS One. 2016;11(6):e0156789. doi: 10.1371/journal.pone.0156789.

PubMed [citation]
PMID:
27257965
PMCID:
PMC4892623

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP, Chandratre K, Gupta H, Zhang L, Wang X, Cui J, Kim YC, Sinha S, Jiang L, Lu B, Wu X, Qin Z, Huang T, Wang SM.

Int J Cancer. 2019 Aug 15;145(4):962-973. doi: 10.1002/ijc.32176. Epub 2019 Feb 13.

PubMed [citation]
PMID:
30702160
PMCID:
PMC6617753
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV001207568.5

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

Description

This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 756 of the BRCA1 protein (p.Arg756Ser). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with hereditary breast, ovarian, and/or prostate cancer (PMID: 27257965, 30702160, 34326862, 35918668). ClinVar contains an entry for this variant (Variation ID: 224428). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Apr 20, 2024