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NM_007294.4(BRCA1):c.1965C>A (p.Tyr655Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 29, 2015
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:
RCV000509880.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.1965C>A (p.Tyr655Ter)]

NM_007294.4(BRCA1):c.1965C>A (p.Tyr655Ter)

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.1965C>A (p.Tyr655Ter)
Other names:
2084C>A-Tyr655ter
HGVS:
  • NC_000017.11:g.43093566G>T
  • NG_005905.2:g.124418C>A
  • NM_001407571.1:c.1752C>A
  • NM_001407581.1:c.1965C>A
  • NM_001407582.1:c.1965C>A
  • NM_001407583.1:c.1965C>A
  • NM_001407585.1:c.1965C>A
  • NM_001407587.1:c.1962C>A
  • NM_001407590.1:c.1962C>A
  • NM_001407591.1:c.1962C>A
  • NM_001407593.1:c.1965C>A
  • NM_001407594.1:c.1965C>A
  • NM_001407596.1:c.1965C>A
  • NM_001407597.1:c.1965C>A
  • NM_001407598.1:c.1965C>A
  • NM_001407602.1:c.1965C>A
  • NM_001407603.1:c.1965C>A
  • NM_001407605.1:c.1965C>A
  • NM_001407610.1:c.1962C>A
  • NM_001407611.1:c.1962C>A
  • NM_001407612.1:c.1962C>A
  • NM_001407613.1:c.1962C>A
  • NM_001407614.1:c.1962C>A
  • NM_001407615.1:c.1962C>A
  • NM_001407616.1:c.1965C>A
  • NM_001407617.1:c.1965C>A
  • NM_001407618.1:c.1965C>A
  • NM_001407619.1:c.1965C>A
  • NM_001407620.1:c.1965C>A
  • NM_001407621.1:c.1965C>A
  • NM_001407622.1:c.1965C>A
  • NM_001407623.1:c.1965C>A
  • NM_001407624.1:c.1965C>A
  • NM_001407625.1:c.1965C>A
  • NM_001407626.1:c.1965C>A
  • NM_001407627.1:c.1962C>A
  • NM_001407628.1:c.1962C>A
  • NM_001407629.1:c.1962C>A
  • NM_001407630.1:c.1962C>A
  • NM_001407631.1:c.1962C>A
  • NM_001407632.1:c.1962C>A
  • NM_001407633.1:c.1962C>A
  • NM_001407634.1:c.1962C>A
  • NM_001407635.1:c.1962C>A
  • NM_001407636.1:c.1962C>A
  • NM_001407637.1:c.1962C>A
  • NM_001407638.1:c.1962C>A
  • NM_001407639.1:c.1965C>A
  • NM_001407640.1:c.1965C>A
  • NM_001407641.1:c.1965C>A
  • NM_001407642.1:c.1965C>A
  • NM_001407644.1:c.1962C>A
  • NM_001407645.1:c.1962C>A
  • NM_001407646.1:c.1956C>A
  • NM_001407647.1:c.1956C>A
  • NM_001407648.1:c.1842C>A
  • NM_001407649.1:c.1839C>A
  • NM_001407652.1:c.1965C>A
  • NM_001407653.1:c.1887C>A
  • NM_001407654.1:c.1887C>A
  • NM_001407655.1:c.1887C>A
  • NM_001407656.1:c.1887C>A
  • NM_001407657.1:c.1887C>A
  • NM_001407658.1:c.1887C>A
  • NM_001407659.1:c.1884C>A
  • NM_001407660.1:c.1884C>A
  • NM_001407661.1:c.1884C>A
  • NM_001407662.1:c.1884C>A
  • NM_001407663.1:c.1887C>A
  • NM_001407664.1:c.1842C>A
  • NM_001407665.1:c.1842C>A
  • NM_001407666.1:c.1842C>A
  • NM_001407667.1:c.1842C>A
  • NM_001407668.1:c.1842C>A
  • NM_001407669.1:c.1842C>A
  • NM_001407670.1:c.1839C>A
  • NM_001407671.1:c.1839C>A
  • NM_001407672.1:c.1839C>A
  • NM_001407673.1:c.1839C>A
  • NM_001407674.1:c.1842C>A
  • NM_001407675.1:c.1842C>A
  • NM_001407676.1:c.1842C>A
  • NM_001407677.1:c.1842C>A
  • NM_001407678.1:c.1842C>A
  • NM_001407679.1:c.1842C>A
  • NM_001407680.1:c.1842C>A
  • NM_001407681.1:c.1842C>A
  • NM_001407682.1:c.1842C>A
  • NM_001407683.1:c.1842C>A
  • NM_001407684.1:c.1965C>A
  • NM_001407685.1:c.1839C>A
  • NM_001407686.1:c.1839C>A
  • NM_001407687.1:c.1839C>A
  • NM_001407688.1:c.1839C>A
  • NM_001407689.1:c.1839C>A
  • NM_001407690.1:c.1839C>A
  • NM_001407691.1:c.1839C>A
  • NM_001407692.1:c.1824C>A
  • NM_001407694.1:c.1824C>A
  • NM_001407695.1:c.1824C>A
  • NM_001407696.1:c.1824C>A
  • NM_001407697.1:c.1824C>A
  • NM_001407698.1:c.1824C>A
  • NM_001407724.1:c.1824C>A
  • NM_001407725.1:c.1824C>A
  • NM_001407726.1:c.1824C>A
  • NM_001407727.1:c.1824C>A
  • NM_001407728.1:c.1824C>A
  • NM_001407729.1:c.1824C>A
  • NM_001407730.1:c.1824C>A
  • NM_001407731.1:c.1824C>A
  • NM_001407732.1:c.1824C>A
  • NM_001407733.1:c.1824C>A
  • NM_001407734.1:c.1824C>A
  • NM_001407735.1:c.1824C>A
  • NM_001407736.1:c.1824C>A
  • NM_001407737.1:c.1824C>A
  • NM_001407738.1:c.1824C>A
  • NM_001407739.1:c.1824C>A
  • NM_001407740.1:c.1821C>A
  • NM_001407741.1:c.1821C>A
  • NM_001407742.1:c.1821C>A
  • NM_001407743.1:c.1821C>A
  • NM_001407744.1:c.1821C>A
  • NM_001407745.1:c.1821C>A
  • NM_001407746.1:c.1821C>A
  • NM_001407747.1:c.1821C>A
  • NM_001407748.1:c.1821C>A
  • NM_001407749.1:c.1821C>A
  • NM_001407750.1:c.1824C>A
  • NM_001407751.1:c.1824C>A
  • NM_001407752.1:c.1824C>A
  • NM_001407838.1:c.1821C>A
  • NM_001407839.1:c.1821C>A
  • NM_001407841.1:c.1821C>A
  • NM_001407842.1:c.1821C>A
  • NM_001407843.1:c.1821C>A
  • NM_001407844.1:c.1821C>A
  • NM_001407845.1:c.1821C>A
  • NM_001407846.1:c.1821C>A
  • NM_001407847.1:c.1821C>A
  • NM_001407848.1:c.1821C>A
  • NM_001407849.1:c.1821C>A
  • NM_001407850.1:c.1824C>A
  • NM_001407851.1:c.1824C>A
  • NM_001407852.1:c.1824C>A
  • NM_001407853.1:c.1752C>A
  • NM_001407854.1:c.1965C>A
  • NM_001407858.1:c.1965C>A
  • NM_001407859.1:c.1965C>A
  • NM_001407860.1:c.1962C>A
  • NM_001407861.1:c.1962C>A
  • NM_001407862.1:c.1764C>A
  • NM_001407863.1:c.1842C>A
  • NM_001407874.1:c.1761C>A
  • NM_001407875.1:c.1761C>A
  • NM_001407879.1:c.1755C>A
  • NM_001407881.1:c.1755C>A
  • NM_001407882.1:c.1755C>A
  • NM_001407884.1:c.1755C>A
  • NM_001407885.1:c.1755C>A
  • NM_001407886.1:c.1755C>A
  • NM_001407887.1:c.1755C>A
  • NM_001407889.1:c.1755C>A
  • NM_001407894.1:c.1752C>A
  • NM_001407895.1:c.1752C>A
  • NM_001407896.1:c.1752C>A
  • NM_001407897.1:c.1752C>A
  • NM_001407898.1:c.1752C>A
  • NM_001407899.1:c.1752C>A
  • NM_001407900.1:c.1755C>A
  • NM_001407902.1:c.1755C>A
  • NM_001407904.1:c.1755C>A
  • NM_001407906.1:c.1755C>A
  • NM_001407907.1:c.1755C>A
  • NM_001407908.1:c.1755C>A
  • NM_001407909.1:c.1755C>A
  • NM_001407910.1:c.1755C>A
  • NM_001407915.1:c.1752C>A
  • NM_001407916.1:c.1752C>A
  • NM_001407917.1:c.1752C>A
  • NM_001407918.1:c.1752C>A
  • NM_001407919.1:c.1842C>A
  • NM_001407920.1:c.1701C>A
  • NM_001407921.1:c.1701C>A
  • NM_001407922.1:c.1701C>A
  • NM_001407923.1:c.1701C>A
  • NM_001407924.1:c.1701C>A
  • NM_001407925.1:c.1701C>A
  • NM_001407926.1:c.1701C>A
  • NM_001407927.1:c.1701C>A
  • NM_001407928.1:c.1701C>A
  • NM_001407929.1:c.1701C>A
  • NM_001407930.1:c.1698C>A
  • NM_001407931.1:c.1698C>A
  • NM_001407932.1:c.1698C>A
  • NM_001407933.1:c.1701C>A
  • NM_001407934.1:c.1698C>A
  • NM_001407935.1:c.1701C>A
  • NM_001407936.1:c.1698C>A
  • NM_001407937.1:c.1842C>A
  • NM_001407938.1:c.1842C>A
  • NM_001407939.1:c.1842C>A
  • NM_001407940.1:c.1839C>A
  • NM_001407941.1:c.1839C>A
  • NM_001407942.1:c.1824C>A
  • NM_001407943.1:c.1821C>A
  • NM_001407944.1:c.1824C>A
  • NM_001407945.1:c.1824C>A
  • NM_001407946.1:c.1632C>A
  • NM_001407947.1:c.1632C>A
  • NM_001407948.1:c.1632C>A
  • NM_001407949.1:c.1632C>A
  • NM_001407950.1:c.1632C>A
  • NM_001407951.1:c.1632C>A
  • NM_001407952.1:c.1632C>A
  • NM_001407953.1:c.1632C>A
  • NM_001407954.1:c.1629C>A
  • NM_001407955.1:c.1629C>A
  • NM_001407956.1:c.1629C>A
  • NM_001407957.1:c.1632C>A
  • NM_001407958.1:c.1629C>A
  • NM_001407959.1:c.1584C>A
  • NM_001407960.1:c.1584C>A
  • NM_001407962.1:c.1581C>A
  • NM_001407963.1:c.1584C>A
  • NM_001407964.1:c.1821C>A
  • NM_001407965.1:c.1461C>A
  • NM_001407966.1:c.1077C>A
  • NM_001407967.1:c.1077C>A
  • NM_001407968.1:c.787+1178C>A
  • NM_001407969.1:c.787+1178C>A
  • NM_001407970.1:c.787+1178C>A
  • NM_001407971.1:c.787+1178C>A
  • NM_001407972.1:c.784+1178C>A
  • NM_001407973.1:c.787+1178C>A
  • NM_001407974.1:c.787+1178C>A
  • NM_001407975.1:c.787+1178C>A
  • NM_001407976.1:c.787+1178C>A
  • NM_001407977.1:c.787+1178C>A
  • NM_001407978.1:c.787+1178C>A
  • NM_001407979.1:c.787+1178C>A
  • NM_001407980.1:c.787+1178C>A
  • NM_001407981.1:c.787+1178C>A
  • NM_001407982.1:c.787+1178C>A
  • NM_001407983.1:c.787+1178C>A
  • NM_001407984.1:c.784+1178C>A
  • NM_001407985.1:c.784+1178C>A
  • NM_001407986.1:c.784+1178C>A
  • NM_001407990.1:c.787+1178C>A
  • NM_001407991.1:c.784+1178C>A
  • NM_001407992.1:c.784+1178C>A
  • NM_001407993.1:c.787+1178C>A
  • NM_001408392.1:c.784+1178C>A
  • NM_001408396.1:c.784+1178C>A
  • NM_001408397.1:c.784+1178C>A
  • NM_001408398.1:c.784+1178C>A
  • NM_001408399.1:c.784+1178C>A
  • NM_001408400.1:c.784+1178C>A
  • NM_001408401.1:c.784+1178C>A
  • NM_001408402.1:c.784+1178C>A
  • NM_001408403.1:c.787+1178C>A
  • NM_001408404.1:c.787+1178C>A
  • NM_001408406.1:c.790+1175C>A
  • NM_001408407.1:c.784+1178C>A
  • NM_001408408.1:c.778+1178C>A
  • NM_001408409.1:c.709+1178C>A
  • NM_001408410.1:c.646+1178C>A
  • NM_001408411.1:c.709+1178C>A
  • NM_001408412.1:c.709+1178C>A
  • NM_001408413.1:c.706+1178C>A
  • NM_001408414.1:c.709+1178C>A
  • NM_001408415.1:c.709+1178C>A
  • NM_001408416.1:c.706+1178C>A
  • NM_001408418.1:c.670+2280C>A
  • NM_001408419.1:c.670+2280C>A
  • NM_001408420.1:c.670+2280C>A
  • NM_001408421.1:c.667+2280C>A
  • NM_001408422.1:c.670+2280C>A
  • NM_001408423.1:c.670+2280C>A
  • NM_001408424.1:c.667+2280C>A
  • NM_001408425.1:c.664+1178C>A
  • NM_001408426.1:c.664+1178C>A
  • NM_001408427.1:c.664+1178C>A
  • NM_001408428.1:c.664+1178C>A
  • NM_001408429.1:c.664+1178C>A
  • NM_001408430.1:c.664+1178C>A
  • NM_001408431.1:c.667+2280C>A
  • NM_001408432.1:c.661+1178C>A
  • NM_001408433.1:c.661+1178C>A
  • NM_001408434.1:c.661+1178C>A
  • NM_001408435.1:c.661+1178C>A
  • NM_001408436.1:c.664+1178C>A
  • NM_001408437.1:c.664+1178C>A
  • NM_001408438.1:c.664+1178C>A
  • NM_001408439.1:c.664+1178C>A
  • NM_001408440.1:c.664+1178C>A
  • NM_001408441.1:c.664+1178C>A
  • NM_001408442.1:c.664+1178C>A
  • NM_001408443.1:c.664+1178C>A
  • NM_001408444.1:c.664+1178C>A
  • NM_001408445.1:c.661+1178C>A
  • NM_001408446.1:c.661+1178C>A
  • NM_001408447.1:c.661+1178C>A
  • NM_001408448.1:c.661+1178C>A
  • NM_001408450.1:c.661+1178C>A
  • NM_001408451.1:c.652+1178C>A
  • NM_001408452.1:c.646+1178C>A
  • NM_001408453.1:c.646+1178C>A
  • NM_001408454.1:c.646+1178C>A
  • NM_001408455.1:c.646+1178C>A
  • NM_001408456.1:c.646+1178C>A
  • NM_001408457.1:c.646+1178C>A
  • NM_001408458.1:c.646+1178C>A
  • NM_001408459.1:c.646+1178C>A
  • NM_001408460.1:c.646+1178C>A
  • NM_001408461.1:c.646+1178C>A
  • NM_001408462.1:c.643+1178C>A
  • NM_001408463.1:c.643+1178C>A
  • NM_001408464.1:c.643+1178C>A
  • NM_001408465.1:c.643+1178C>A
  • NM_001408466.1:c.646+1178C>A
  • NM_001408467.1:c.646+1178C>A
  • NM_001408468.1:c.643+1178C>A
  • NM_001408469.1:c.646+1178C>A
  • NM_001408470.1:c.643+1178C>A
  • NM_001408472.1:c.787+1178C>A
  • NM_001408473.1:c.784+1178C>A
  • NM_001408474.1:c.586+1178C>A
  • NM_001408475.1:c.583+1178C>A
  • NM_001408476.1:c.586+1178C>A
  • NM_001408478.1:c.577+1178C>A
  • NM_001408479.1:c.577+1178C>A
  • NM_001408480.1:c.577+1178C>A
  • NM_001408481.1:c.577+1178C>A
  • NM_001408482.1:c.577+1178C>A
  • NM_001408483.1:c.577+1178C>A
  • NM_001408484.1:c.577+1178C>A
  • NM_001408485.1:c.577+1178C>A
  • NM_001408489.1:c.577+1178C>A
  • NM_001408490.1:c.574+1178C>A
  • NM_001408491.1:c.574+1178C>A
  • NM_001408492.1:c.577+1178C>A
  • NM_001408493.1:c.574+1178C>A
  • NM_001408494.1:c.548-2534C>A
  • NM_001408495.1:c.545-2534C>A
  • NM_001408496.1:c.523+1178C>A
  • NM_001408497.1:c.523+1178C>A
  • NM_001408498.1:c.523+1178C>A
  • NM_001408499.1:c.523+1178C>A
  • NM_001408500.1:c.523+1178C>A
  • NM_001408501.1:c.523+1178C>A
  • NM_001408502.1:c.454+1178C>A
  • NM_001408503.1:c.520+1178C>A
  • NM_001408504.1:c.520+1178C>A
  • NM_001408505.1:c.520+1178C>A
  • NM_001408506.1:c.460+2280C>A
  • NM_001408507.1:c.460+2280C>A
  • NM_001408508.1:c.451+1178C>A
  • NM_001408509.1:c.451+1178C>A
  • NM_001408510.1:c.406+1178C>A
  • NM_001408511.1:c.404-2534C>A
  • NM_001408512.1:c.283+1178C>A
  • NM_001408513.1:c.577+1178C>A
  • NM_001408514.1:c.577+1178C>A
  • NM_007294.4:c.1965C>AMANE SELECT
  • NM_007297.4:c.1824C>A
  • NM_007298.4:c.787+1178C>A
  • NM_007299.4:c.787+1178C>A
  • NM_007300.4:c.1965C>A
  • NP_001394500.1:p.Tyr584Ter
  • NP_001394510.1:p.Tyr655Ter
  • NP_001394511.1:p.Tyr655Ter
  • NP_001394512.1:p.Tyr655Ter
  • NP_001394514.1:p.Tyr655Ter
  • NP_001394516.1:p.Tyr654Ter
  • NP_001394519.1:p.Tyr654Ter
  • NP_001394520.1:p.Tyr654Ter
  • NP_001394522.1:p.Tyr655Ter
  • NP_001394523.1:p.Tyr655Ter
  • NP_001394525.1:p.Tyr655Ter
  • NP_001394526.1:p.Tyr655Ter
  • NP_001394527.1:p.Tyr655Ter
  • NP_001394531.1:p.Tyr655Ter
  • NP_001394532.1:p.Tyr655Ter
  • NP_001394534.1:p.Tyr655Ter
  • NP_001394539.1:p.Tyr654Ter
  • NP_001394540.1:p.Tyr654Ter
  • NP_001394541.1:p.Tyr654Ter
  • NP_001394542.1:p.Tyr654Ter
  • NP_001394543.1:p.Tyr654Ter
  • NP_001394544.1:p.Tyr654Ter
  • NP_001394545.1:p.Tyr655Ter
  • NP_001394546.1:p.Tyr655Ter
  • NP_001394547.1:p.Tyr655Ter
  • NP_001394548.1:p.Tyr655Ter
  • NP_001394549.1:p.Tyr655Ter
  • NP_001394550.1:p.Tyr655Ter
  • NP_001394551.1:p.Tyr655Ter
  • NP_001394552.1:p.Tyr655Ter
  • NP_001394553.1:p.Tyr655Ter
  • NP_001394554.1:p.Tyr655Ter
  • NP_001394555.1:p.Tyr655Ter
  • NP_001394556.1:p.Tyr654Ter
  • NP_001394557.1:p.Tyr654Ter
  • NP_001394558.1:p.Tyr654Ter
  • NP_001394559.1:p.Tyr654Ter
  • NP_001394560.1:p.Tyr654Ter
  • NP_001394561.1:p.Tyr654Ter
  • NP_001394562.1:p.Tyr654Ter
  • NP_001394563.1:p.Tyr654Ter
  • NP_001394564.1:p.Tyr654Ter
  • NP_001394565.1:p.Tyr654Ter
  • NP_001394566.1:p.Tyr654Ter
  • NP_001394567.1:p.Tyr654Ter
  • NP_001394568.1:p.Tyr655Ter
  • NP_001394569.1:p.Tyr655Ter
  • NP_001394570.1:p.Tyr655Ter
  • NP_001394571.1:p.Tyr655Ter
  • NP_001394573.1:p.Tyr654Ter
  • NP_001394574.1:p.Tyr654Ter
  • NP_001394575.1:p.Tyr652Ter
  • NP_001394576.1:p.Tyr652Ter
  • NP_001394577.1:p.Tyr614Ter
  • NP_001394578.1:p.Tyr613Ter
  • NP_001394581.1:p.Tyr655Ter
  • NP_001394582.1:p.Tyr629Ter
  • NP_001394583.1:p.Tyr629Ter
  • NP_001394584.1:p.Tyr629Ter
  • NP_001394585.1:p.Tyr629Ter
  • NP_001394586.1:p.Tyr629Ter
  • NP_001394587.1:p.Tyr629Ter
  • NP_001394588.1:p.Tyr628Ter
  • NP_001394589.1:p.Tyr628Ter
  • NP_001394590.1:p.Tyr628Ter
  • NP_001394591.1:p.Tyr628Ter
  • NP_001394592.1:p.Tyr629Ter
  • NP_001394593.1:p.Tyr614Ter
  • NP_001394594.1:p.Tyr614Ter
  • NP_001394595.1:p.Tyr614Ter
  • NP_001394596.1:p.Tyr614Ter
  • NP_001394597.1:p.Tyr614Ter
  • NP_001394598.1:p.Tyr614Ter
  • NP_001394599.1:p.Tyr613Ter
  • NP_001394600.1:p.Tyr613Ter
  • NP_001394601.1:p.Tyr613Ter
  • NP_001394602.1:p.Tyr613Ter
  • NP_001394603.1:p.Tyr614Ter
  • NP_001394604.1:p.Tyr614Ter
  • NP_001394605.1:p.Tyr614Ter
  • NP_001394606.1:p.Tyr614Ter
  • NP_001394607.1:p.Tyr614Ter
  • NP_001394608.1:p.Tyr614Ter
  • NP_001394609.1:p.Tyr614Ter
  • NP_001394610.1:p.Tyr614Ter
  • NP_001394611.1:p.Tyr614Ter
  • NP_001394612.1:p.Tyr614Ter
  • NP_001394613.1:p.Tyr655Ter
  • NP_001394614.1:p.Tyr613Ter
  • NP_001394615.1:p.Tyr613Ter
  • NP_001394616.1:p.Tyr613Ter
  • NP_001394617.1:p.Tyr613Ter
  • NP_001394618.1:p.Tyr613Ter
  • NP_001394619.1:p.Tyr613Ter
  • NP_001394620.1:p.Tyr613Ter
  • NP_001394621.1:p.Tyr608Ter
  • NP_001394623.1:p.Tyr608Ter
  • NP_001394624.1:p.Tyr608Ter
  • NP_001394625.1:p.Tyr608Ter
  • NP_001394626.1:p.Tyr608Ter
  • NP_001394627.1:p.Tyr608Ter
  • NP_001394653.1:p.Tyr608Ter
  • NP_001394654.1:p.Tyr608Ter
  • NP_001394655.1:p.Tyr608Ter
  • NP_001394656.1:p.Tyr608Ter
  • NP_001394657.1:p.Tyr608Ter
  • NP_001394658.1:p.Tyr608Ter
  • NP_001394659.1:p.Tyr608Ter
  • NP_001394660.1:p.Tyr608Ter
  • NP_001394661.1:p.Tyr608Ter
  • NP_001394662.1:p.Tyr608Ter
  • NP_001394663.1:p.Tyr608Ter
  • NP_001394664.1:p.Tyr608Ter
  • NP_001394665.1:p.Tyr608Ter
  • NP_001394666.1:p.Tyr608Ter
  • NP_001394667.1:p.Tyr608Ter
  • NP_001394668.1:p.Tyr608Ter
  • NP_001394669.1:p.Tyr607Ter
  • NP_001394670.1:p.Tyr607Ter
  • NP_001394671.1:p.Tyr607Ter
  • NP_001394672.1:p.Tyr607Ter
  • NP_001394673.1:p.Tyr607Ter
  • NP_001394674.1:p.Tyr607Ter
  • NP_001394675.1:p.Tyr607Ter
  • NP_001394676.1:p.Tyr607Ter
  • NP_001394677.1:p.Tyr607Ter
  • NP_001394678.1:p.Tyr607Ter
  • NP_001394679.1:p.Tyr608Ter
  • NP_001394680.1:p.Tyr608Ter
  • NP_001394681.1:p.Tyr608Ter
  • NP_001394767.1:p.Tyr607Ter
  • NP_001394768.1:p.Tyr607Ter
  • NP_001394770.1:p.Tyr607Ter
  • NP_001394771.1:p.Tyr607Ter
  • NP_001394772.1:p.Tyr607Ter
  • NP_001394773.1:p.Tyr607Ter
  • NP_001394774.1:p.Tyr607Ter
  • NP_001394775.1:p.Tyr607Ter
  • NP_001394776.1:p.Tyr607Ter
  • NP_001394777.1:p.Tyr607Ter
  • NP_001394778.1:p.Tyr607Ter
  • NP_001394779.1:p.Tyr608Ter
  • NP_001394780.1:p.Tyr608Ter
  • NP_001394781.1:p.Tyr608Ter
  • NP_001394782.1:p.Tyr584Ter
  • NP_001394783.1:p.Tyr655Ter
  • NP_001394787.1:p.Tyr655Ter
  • NP_001394788.1:p.Tyr655Ter
  • NP_001394789.1:p.Tyr654Ter
  • NP_001394790.1:p.Tyr654Ter
  • NP_001394791.1:p.Tyr588Ter
  • NP_001394792.1:p.Tyr614Ter
  • NP_001394803.1:p.Tyr587Ter
  • NP_001394804.1:p.Tyr587Ter
  • NP_001394808.1:p.Tyr585Ter
  • NP_001394810.1:p.Tyr585Ter
  • NP_001394811.1:p.Tyr585Ter
  • NP_001394813.1:p.Tyr585Ter
  • NP_001394814.1:p.Tyr585Ter
  • NP_001394815.1:p.Tyr585Ter
  • NP_001394816.1:p.Tyr585Ter
  • NP_001394818.1:p.Tyr585Ter
  • NP_001394823.1:p.Tyr584Ter
  • NP_001394824.1:p.Tyr584Ter
  • NP_001394825.1:p.Tyr584Ter
  • NP_001394826.1:p.Tyr584Ter
  • NP_001394827.1:p.Tyr584Ter
  • NP_001394828.1:p.Tyr584Ter
  • NP_001394829.1:p.Tyr585Ter
  • NP_001394831.1:p.Tyr585Ter
  • NP_001394833.1:p.Tyr585Ter
  • NP_001394835.1:p.Tyr585Ter
  • NP_001394836.1:p.Tyr585Ter
  • NP_001394837.1:p.Tyr585Ter
  • NP_001394838.1:p.Tyr585Ter
  • NP_001394839.1:p.Tyr585Ter
  • NP_001394844.1:p.Tyr584Ter
  • NP_001394845.1:p.Tyr584Ter
  • NP_001394846.1:p.Tyr584Ter
  • NP_001394847.1:p.Tyr584Ter
  • NP_001394848.1:p.Tyr614Ter
  • NP_001394849.1:p.Tyr567Ter
  • NP_001394850.1:p.Tyr567Ter
  • NP_001394851.1:p.Tyr567Ter
  • NP_001394852.1:p.Tyr567Ter
  • NP_001394853.1:p.Tyr567Ter
  • NP_001394854.1:p.Tyr567Ter
  • NP_001394855.1:p.Tyr567Ter
  • NP_001394856.1:p.Tyr567Ter
  • NP_001394857.1:p.Tyr567Ter
  • NP_001394858.1:p.Tyr567Ter
  • NP_001394859.1:p.Tyr566Ter
  • NP_001394860.1:p.Tyr566Ter
  • NP_001394861.1:p.Tyr566Ter
  • NP_001394862.1:p.Tyr567Ter
  • NP_001394863.1:p.Tyr566Ter
  • NP_001394864.1:p.Tyr567Ter
  • NP_001394865.1:p.Tyr566Ter
  • NP_001394866.1:p.Tyr614Ter
  • NP_001394867.1:p.Tyr614Ter
  • NP_001394868.1:p.Tyr614Ter
  • NP_001394869.1:p.Tyr613Ter
  • NP_001394870.1:p.Tyr613Ter
  • NP_001394871.1:p.Tyr608Ter
  • NP_001394872.1:p.Tyr607Ter
  • NP_001394873.1:p.Tyr608Ter
  • NP_001394874.1:p.Tyr608Ter
  • NP_001394875.1:p.Tyr544Ter
  • NP_001394876.1:p.Tyr544Ter
  • NP_001394877.1:p.Tyr544Ter
  • NP_001394878.1:p.Tyr544Ter
  • NP_001394879.1:p.Tyr544Ter
  • NP_001394880.1:p.Tyr544Ter
  • NP_001394881.1:p.Tyr544Ter
  • NP_001394882.1:p.Tyr544Ter
  • NP_001394883.1:p.Tyr543Ter
  • NP_001394884.1:p.Tyr543Ter
  • NP_001394885.1:p.Tyr543Ter
  • NP_001394886.1:p.Tyr544Ter
  • NP_001394887.1:p.Tyr543Ter
  • NP_001394888.1:p.Tyr528Ter
  • NP_001394889.1:p.Tyr528Ter
  • NP_001394891.1:p.Tyr527Ter
  • NP_001394892.1:p.Tyr528Ter
  • NP_001394893.1:p.Tyr607Ter
  • NP_001394894.1:p.Tyr487Ter
  • NP_001394895.1:p.Tyr359Ter
  • NP_001394896.1:p.Tyr359Ter
  • NP_009225.1:p.Tyr655Ter
  • NP_009225.1:p.Tyr655Ter
  • NP_009228.2:p.Tyr608Ter
  • NP_009231.2:p.Tyr655Ter
  • LRG_292t1:c.1965C>A
  • LRG_292:g.124418C>A
  • LRG_292p1:p.Tyr655Ter
  • NC_000017.10:g.41245583G>T
  • NM_007294.3:c.1965C>A
  • NR_027676.1:n.2101C>A
  • p.Tyr655X
Protein change:
Y359*
Links:
dbSNP: rs886039987
NCBI 1000 Genomes Browser:
rs886039987
Molecular consequence:
  • NM_001407968.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1175C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+2280C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+2280C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+2280C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+2280C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+2280C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+2280C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+2280C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+2280C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2534C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2534C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+2280C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+2280C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2534C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1178C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1752C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.1956C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.1956C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.1839C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.1887C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.1887C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.1887C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.1887C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.1887C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.1887C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.1884C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.1884C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.1884C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.1884C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.1887C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.1839C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.1839C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.1839C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.1839C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.1839C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.1839C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.1839C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.1839C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.1839C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.1839C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.1839C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.1752C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.1962C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.1764C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.1761C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.1761C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.1755C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.1755C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.1755C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.1755C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.1755C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.1755C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.1755C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.1755C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.1752C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.1752C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.1752C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.1752C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.1752C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.1752C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.1755C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.1755C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.1755C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.1755C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.1755C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.1755C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.1755C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.1755C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.1752C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.1752C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.1752C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.1752C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.1701C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.1701C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.1701C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.1701C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.1701C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.1701C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.1701C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.1701C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.1701C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.1701C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.1698C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.1698C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.1698C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.1701C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.1698C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.1701C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.1698C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.1842C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.1839C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.1839C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.1632C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.1632C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.1632C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.1632C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.1632C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.1632C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.1632C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.1632C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.1629C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.1629C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.1629C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.1632C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.1629C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.1584C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.1584C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.1581C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.1584C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.1821C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.1461C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407966.1:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407967.1:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.1824C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.1965C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000608096Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Oct 29, 2015) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

Lecarpentier J, Noguès C, Mouret-Fourme E, Gauthier-Villars M, Lasset C, Fricker JP, Caron O, Stoppa-Lyonnet D, Berthet P, Faivre L, Bonadona V, Buecher B, Coupier I, Gladieff L, Gesta P, Eisinger F, Frénay M, Luporsi E, Lortholary A, Colas C, Dugast C, Longy M, et al.

Breast Cancer Res. 2012 Jul 3;14(4):R99. doi: 10.1186/bcr3218.

PubMed [citation]
PMID:
22762150
PMCID:
PMC3680948

Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).

Blay P, Santamaría I, Pitiot AS, Luque M, Alvarado MG, Lastra A, Fernández Y, Paredes A, Freije JM, Balbín M.

BMC Cancer. 2013 May 17;13:243. doi: 10.1186/1471-2407-13-243.

PubMed [citation]
PMID:
23683081
PMCID:
PMC3662577

Details of each submission

From Ambry Genetics, SCV000608096.5

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

Description

The p.Y655* pathogenic mutation (also known as c.1965C>A), located in coding exon 9 of the BRCA1 gene, results from a C to A substitution at nucleotide position 1965. This changes the amino acid from a tyrosine to a stop codon within coding exon 9. This alteration has been reported in one HBOC family from France and one from northern Spain (Lecarpentier J et al. Breast Cancer Res. 2012; 14(4):R99; Blay P et al. BMC Cancer 2013; 13:243). Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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

Last Updated: Nov 3, 2024