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NM_007294.4(BRCA1):c.5498T>C (p.Val1833Ala) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 21, 2022
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:
RCV001849940.7

Allele description [Variation Report for NM_007294.4(BRCA1):c.5498T>C (p.Val1833Ala)]

NM_007294.4(BRCA1):c.5498T>C (p.Val1833Ala)

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.5498T>C (p.Val1833Ala)
HGVS:
  • NC_000017.11:g.43045772A>G
  • NG_005905.2:g.172212T>C
  • NM_001407571.1:c.5285T>C
  • NM_001407581.1:c.5564T>C
  • NM_001407582.1:c.5564T>C
  • NM_001407583.1:c.5561T>C
  • NM_001407585.1:c.5561T>C
  • NM_001407587.1:c.5561T>C
  • NM_001407590.1:c.5558T>C
  • NM_001407591.1:c.5558T>C
  • NM_001407593.1:c.5498T>C
  • NM_001407594.1:c.5498T>C
  • NM_001407596.1:c.5498T>C
  • NM_001407597.1:c.5498T>C
  • NM_001407598.1:c.5498T>C
  • NM_001407602.1:c.5498T>C
  • NM_001407603.1:c.5498T>C
  • NM_001407605.1:c.5498T>C
  • NM_001407610.1:c.5495T>C
  • NM_001407611.1:c.5495T>C
  • NM_001407612.1:c.5495T>C
  • NM_001407613.1:c.5495T>C
  • NM_001407614.1:c.5495T>C
  • NM_001407615.1:c.5495T>C
  • NM_001407616.1:c.5495T>C
  • NM_001407617.1:c.5495T>C
  • NM_001407618.1:c.5495T>C
  • NM_001407619.1:c.5495T>C
  • NM_001407620.1:c.5495T>C
  • NM_001407621.1:c.5495T>C
  • NM_001407622.1:c.5495T>C
  • NM_001407623.1:c.5495T>C
  • NM_001407624.1:c.5495T>C
  • NM_001407625.1:c.5495T>C
  • NM_001407626.1:c.5495T>C
  • NM_001407627.1:c.5492T>C
  • NM_001407628.1:c.5492T>C
  • NM_001407629.1:c.5492T>C
  • NM_001407630.1:c.5492T>C
  • NM_001407631.1:c.5492T>C
  • NM_001407632.1:c.5492T>C
  • NM_001407633.1:c.5492T>C
  • NM_001407634.1:c.5492T>C
  • NM_001407635.1:c.5492T>C
  • NM_001407636.1:c.5492T>C
  • NM_001407637.1:c.5492T>C
  • NM_001407638.1:c.5492T>C
  • NM_001407639.1:c.5492T>C
  • NM_001407640.1:c.5492T>C
  • NM_001407641.1:c.5492T>C
  • NM_001407642.1:c.5492T>C
  • NM_001407644.1:c.5489T>C
  • NM_001407645.1:c.5489T>C
  • NM_001407646.1:c.5486T>C
  • NM_001407647.1:c.5483T>C
  • NM_001407648.1:c.5441T>C
  • NM_001407649.1:c.5438T>C
  • NM_001407652.1:c.5420T>C
  • NM_001407653.1:c.5420T>C
  • NM_001407654.1:c.5420T>C
  • NM_001407655.1:c.5420T>C
  • NM_001407656.1:c.5417T>C
  • NM_001407657.1:c.5417T>C
  • NM_001407658.1:c.5417T>C
  • NM_001407659.1:c.5414T>C
  • NM_001407660.1:c.5414T>C
  • NM_001407661.1:c.5414T>C
  • NM_001407662.1:c.5414T>C
  • NM_001407663.1:c.5414T>C
  • NM_001407664.1:c.5375T>C
  • NM_001407665.1:c.5375T>C
  • NM_001407666.1:c.5375T>C
  • NM_001407667.1:c.5375T>C
  • NM_001407668.1:c.5375T>C
  • NM_001407669.1:c.5375T>C
  • NM_001407670.1:c.5372T>C
  • NM_001407671.1:c.5372T>C
  • NM_001407672.1:c.5372T>C
  • NM_001407673.1:c.5372T>C
  • NM_001407674.1:c.5372T>C
  • NM_001407675.1:c.5372T>C
  • NM_001407676.1:c.5372T>C
  • NM_001407677.1:c.5372T>C
  • NM_001407678.1:c.5372T>C
  • NM_001407679.1:c.5372T>C
  • NM_001407680.1:c.5372T>C
  • NM_001407681.1:c.5369T>C
  • NM_001407682.1:c.5369T>C
  • NM_001407683.1:c.5369T>C
  • NM_001407684.1:c.5369T>C
  • NM_001407685.1:c.5369T>C
  • NM_001407686.1:c.5369T>C
  • NM_001407687.1:c.5369T>C
  • NM_001407688.1:c.5369T>C
  • NM_001407689.1:c.5369T>C
  • NM_001407690.1:c.5366T>C
  • NM_001407691.1:c.5366T>C
  • NM_001407692.1:c.5357T>C
  • NM_001407694.1:c.5357T>C
  • NM_001407695.1:c.5357T>C
  • NM_001407696.1:c.5357T>C
  • NM_001407697.1:c.5357T>C
  • NM_001407698.1:c.5357T>C
  • NM_001407724.1:c.5357T>C
  • NM_001407725.1:c.5357T>C
  • NM_001407726.1:c.5357T>C
  • NM_001407727.1:c.5357T>C
  • NM_001407728.1:c.5357T>C
  • NM_001407729.1:c.5357T>C
  • NM_001407730.1:c.5357T>C
  • NM_001407731.1:c.5357T>C
  • NM_001407732.1:c.5354T>C
  • NM_001407733.1:c.5354T>C
  • NM_001407734.1:c.5354T>C
  • NM_001407735.1:c.5354T>C
  • NM_001407736.1:c.5354T>C
  • NM_001407737.1:c.5354T>C
  • NM_001407738.1:c.5354T>C
  • NM_001407739.1:c.5354T>C
  • NM_001407740.1:c.5354T>C
  • NM_001407741.1:c.5354T>C
  • NM_001407742.1:c.5354T>C
  • NM_001407743.1:c.5354T>C
  • NM_001407744.1:c.5354T>C
  • NM_001407745.1:c.5354T>C
  • NM_001407746.1:c.5354T>C
  • NM_001407747.1:c.5354T>C
  • NM_001407748.1:c.5354T>C
  • NM_001407749.1:c.5354T>C
  • NM_001407750.1:c.5354T>C
  • NM_001407751.1:c.5354T>C
  • NM_001407752.1:c.5354T>C
  • NM_001407838.1:c.5351T>C
  • NM_001407839.1:c.5351T>C
  • NM_001407841.1:c.5351T>C
  • NM_001407842.1:c.5351T>C
  • NM_001407843.1:c.5351T>C
  • NM_001407844.1:c.5351T>C
  • NM_001407845.1:c.5351T>C
  • NM_001407846.1:c.5351T>C
  • NM_001407847.1:c.5351T>C
  • NM_001407848.1:c.5351T>C
  • NM_001407849.1:c.5351T>C
  • NM_001407850.1:c.5351T>C
  • NM_001407851.1:c.5351T>C
  • NM_001407852.1:c.5351T>C
  • NM_001407853.1:c.5351T>C
  • NM_001407854.1:c.*12T>C
  • NM_001407858.1:c.*12T>C
  • NM_001407859.1:c.*12T>C
  • NM_001407860.1:c.*12T>C
  • NM_001407861.1:c.*12T>C
  • NM_001407862.1:c.5297T>C
  • NM_001407863.1:c.5294T>C
  • NM_001407874.1:c.5291T>C
  • NM_001407875.1:c.5291T>C
  • NM_001407879.1:c.5288T>C
  • NM_001407881.1:c.5288T>C
  • NM_001407882.1:c.5288T>C
  • NM_001407884.1:c.5288T>C
  • NM_001407885.1:c.5288T>C
  • NM_001407886.1:c.5288T>C
  • NM_001407887.1:c.5288T>C
  • NM_001407889.1:c.5288T>C
  • NM_001407894.1:c.5285T>C
  • NM_001407895.1:c.5285T>C
  • NM_001407896.1:c.5285T>C
  • NM_001407897.1:c.5285T>C
  • NM_001407898.1:c.5285T>C
  • NM_001407899.1:c.5285T>C
  • NM_001407900.1:c.5285T>C
  • NM_001407902.1:c.5285T>C
  • NM_001407904.1:c.5285T>C
  • NM_001407906.1:c.5285T>C
  • NM_001407907.1:c.5285T>C
  • NM_001407908.1:c.5285T>C
  • NM_001407909.1:c.5285T>C
  • NM_001407910.1:c.5285T>C
  • NM_001407915.1:c.5282T>C
  • NM_001407916.1:c.5282T>C
  • NM_001407917.1:c.5282T>C
  • NM_001407918.1:c.5282T>C
  • NM_001407919.1:c.5246T>C
  • NM_001407920.1:c.5234T>C
  • NM_001407921.1:c.5234T>C
  • NM_001407922.1:c.5234T>C
  • NM_001407923.1:c.5234T>C
  • NM_001407924.1:c.5234T>C
  • NM_001407925.1:c.5234T>C
  • NM_001407926.1:c.5234T>C
  • NM_001407927.1:c.5231T>C
  • NM_001407928.1:c.5231T>C
  • NM_001407929.1:c.5231T>C
  • NM_001407930.1:c.5231T>C
  • NM_001407931.1:c.5231T>C
  • NM_001407932.1:c.5231T>C
  • NM_001407933.1:c.5231T>C
  • NM_001407934.1:c.5228T>C
  • NM_001407935.1:c.5228T>C
  • NM_001407936.1:c.5228T>C
  • NM_001407937.1:c.*12T>C
  • NM_001407938.1:c.*12T>C
  • NM_001407939.1:c.*12T>C
  • NM_001407940.1:c.*12T>C
  • NM_001407941.1:c.*12T>C
  • NM_001407942.1:c.*12T>C
  • NM_001407943.1:c.*12T>C
  • NM_001407944.1:c.*12T>C
  • NM_001407945.1:c.*12T>C
  • NM_001407946.1:c.5165T>C
  • NM_001407947.1:c.5165T>C
  • NM_001407948.1:c.5165T>C
  • NM_001407949.1:c.5165T>C
  • NM_001407950.1:c.5162T>C
  • NM_001407951.1:c.5162T>C
  • NM_001407952.1:c.5162T>C
  • NM_001407953.1:c.5162T>C
  • NM_001407954.1:c.5162T>C
  • NM_001407955.1:c.5162T>C
  • NM_001407956.1:c.5159T>C
  • NM_001407957.1:c.5159T>C
  • NM_001407958.1:c.5159T>C
  • NM_001407959.1:c.5117T>C
  • NM_001407960.1:c.5114T>C
  • NM_001407962.1:c.5114T>C
  • NM_001407963.1:c.5111T>C
  • NM_001407964.1:c.5036T>C
  • NM_001407965.1:c.4991T>C
  • NM_001407966.1:c.4610T>C
  • NM_001407967.1:c.4607T>C
  • NM_001407968.1:c.2894T>C
  • NM_001407969.1:c.2891T>C
  • NM_001407970.1:c.2255T>C
  • NM_001407971.1:c.2255T>C
  • NM_001407972.1:c.2252T>C
  • NM_001407973.1:c.2189T>C
  • NM_001407974.1:c.2189T>C
  • NM_001407975.1:c.2189T>C
  • NM_001407976.1:c.2189T>C
  • NM_001407977.1:c.2189T>C
  • NM_001407978.1:c.2189T>C
  • NM_001407979.1:c.2186T>C
  • NM_001407980.1:c.2186T>C
  • NM_001407981.1:c.2186T>C
  • NM_001407982.1:c.2186T>C
  • NM_001407983.1:c.2186T>C
  • NM_001407984.1:c.2186T>C
  • NM_001407985.1:c.2186T>C
  • NM_001407986.1:c.2186T>C
  • NM_001407990.1:c.2186T>C
  • NM_001407991.1:c.2186T>C
  • NM_001407992.1:c.2186T>C
  • NM_001407993.1:c.2186T>C
  • NM_001408392.1:c.2183T>C
  • NM_001408396.1:c.2183T>C
  • NM_001408397.1:c.2183T>C
  • NM_001408398.1:c.2183T>C
  • NM_001408399.1:c.2183T>C
  • NM_001408400.1:c.2183T>C
  • NM_001408401.1:c.2183T>C
  • NM_001408402.1:c.2183T>C
  • NM_001408403.1:c.2183T>C
  • NM_001408404.1:c.2183T>C
  • NM_001408406.1:c.2180T>C
  • NM_001408407.1:c.2180T>C
  • NM_001408408.1:c.2180T>C
  • NM_001408409.1:c.2177T>C
  • NM_001408410.1:c.2114T>C
  • NM_001408411.1:c.2111T>C
  • NM_001408412.1:c.2108T>C
  • NM_001408413.1:c.2108T>C
  • NM_001408414.1:c.2108T>C
  • NM_001408415.1:c.2108T>C
  • NM_001408416.1:c.2108T>C
  • NM_001408418.1:c.2072T>C
  • NM_001408419.1:c.2072T>C
  • NM_001408420.1:c.2072T>C
  • NM_001408421.1:c.2069T>C
  • NM_001408422.1:c.2069T>C
  • NM_001408423.1:c.2069T>C
  • NM_001408424.1:c.2069T>C
  • NM_001408425.1:c.2066T>C
  • NM_001408426.1:c.2066T>C
  • NM_001408427.1:c.2066T>C
  • NM_001408428.1:c.2066T>C
  • NM_001408429.1:c.2066T>C
  • NM_001408430.1:c.2066T>C
  • NM_001408431.1:c.2066T>C
  • NM_001408432.1:c.2063T>C
  • NM_001408433.1:c.2063T>C
  • NM_001408434.1:c.2063T>C
  • NM_001408435.1:c.2063T>C
  • NM_001408436.1:c.2063T>C
  • NM_001408437.1:c.2063T>C
  • NM_001408438.1:c.2063T>C
  • NM_001408439.1:c.2063T>C
  • NM_001408440.1:c.2063T>C
  • NM_001408441.1:c.2063T>C
  • NM_001408442.1:c.2063T>C
  • NM_001408443.1:c.2063T>C
  • NM_001408444.1:c.2063T>C
  • NM_001408445.1:c.2060T>C
  • NM_001408446.1:c.2060T>C
  • NM_001408447.1:c.2060T>C
  • NM_001408448.1:c.2060T>C
  • NM_001408450.1:c.2060T>C
  • NM_001408451.1:c.2054T>C
  • NM_001408452.1:c.2048T>C
  • NM_001408453.1:c.2048T>C
  • NM_001408454.1:c.2048T>C
  • NM_001408455.1:c.2048T>C
  • NM_001408456.1:c.2048T>C
  • NM_001408457.1:c.2048T>C
  • NM_001408458.1:c.2045T>C
  • NM_001408459.1:c.2045T>C
  • NM_001408460.1:c.2045T>C
  • NM_001408461.1:c.2045T>C
  • NM_001408462.1:c.2045T>C
  • NM_001408463.1:c.2045T>C
  • NM_001408464.1:c.2045T>C
  • NM_001408465.1:c.2045T>C
  • NM_001408466.1:c.2045T>C
  • NM_001408467.1:c.2045T>C
  • NM_001408468.1:c.2042T>C
  • NM_001408469.1:c.2042T>C
  • NM_001408470.1:c.2042T>C
  • NM_001408472.1:c.*12T>C
  • NM_001408473.1:c.*12T>C
  • NM_001408474.1:c.1988T>C
  • NM_001408475.1:c.1985T>C
  • NM_001408476.1:c.1985T>C
  • NM_001408478.1:c.1979T>C
  • NM_001408479.1:c.1979T>C
  • NM_001408480.1:c.1979T>C
  • NM_001408481.1:c.1976T>C
  • NM_001408482.1:c.1976T>C
  • NM_001408483.1:c.1976T>C
  • NM_001408484.1:c.1976T>C
  • NM_001408485.1:c.1976T>C
  • NM_001408489.1:c.1976T>C
  • NM_001408490.1:c.1976T>C
  • NM_001408491.1:c.1976T>C
  • NM_001408492.1:c.1973T>C
  • NM_001408493.1:c.1973T>C
  • NM_001408494.1:c.1949T>C
  • NM_001408495.1:c.1943T>C
  • NM_001408496.1:c.1925T>C
  • NM_001408497.1:c.1925T>C
  • NM_001408498.1:c.1925T>C
  • NM_001408499.1:c.1925T>C
  • NM_001408500.1:c.1925T>C
  • NM_001408501.1:c.1925T>C
  • NM_001408502.1:c.1922T>C
  • NM_001408503.1:c.1922T>C
  • NM_001408504.1:c.1922T>C
  • NM_001408505.1:c.1919T>C
  • NM_001408506.1:c.1862T>C
  • NM_001408507.1:c.1859T>C
  • NM_001408508.1:c.1850T>C
  • NM_001408509.1:c.1847T>C
  • NM_001408510.1:c.1808T>C
  • NM_001408511.1:c.1805T>C
  • NM_001408512.1:c.1685T>C
  • NM_001408513.1:c.1658T>C
  • NM_001408514.1:c.1262T>C
  • NM_007294.4:c.5498T>CMANE SELECT
  • NM_007297.4:c.5357T>C
  • NM_007298.4:c.2186T>C
  • NM_007299.4:c.*12T>C
  • NM_007300.4:c.5561T>C
  • NM_007304.2:c.2186T>C
  • NP_001394500.1:p.Val1762Ala
  • NP_001394510.1:p.Val1855Ala
  • NP_001394511.1:p.Val1855Ala
  • NP_001394512.1:p.Val1854Ala
  • NP_001394514.1:p.Val1854Ala
  • NP_001394516.1:p.Val1854Ala
  • NP_001394519.1:p.Val1853Ala
  • NP_001394520.1:p.Val1853Ala
  • NP_001394522.1:p.Val1833Ala
  • NP_001394523.1:p.Val1833Ala
  • NP_001394525.1:p.Val1833Ala
  • NP_001394526.1:p.Val1833Ala
  • NP_001394527.1:p.Val1833Ala
  • NP_001394531.1:p.Val1833Ala
  • NP_001394532.1:p.Val1833Ala
  • NP_001394534.1:p.Val1833Ala
  • NP_001394539.1:p.Val1832Ala
  • NP_001394540.1:p.Val1832Ala
  • NP_001394541.1:p.Val1832Ala
  • NP_001394542.1:p.Val1832Ala
  • NP_001394543.1:p.Val1832Ala
  • NP_001394544.1:p.Val1832Ala
  • NP_001394545.1:p.Val1832Ala
  • NP_001394546.1:p.Val1832Ala
  • NP_001394547.1:p.Val1832Ala
  • NP_001394548.1:p.Val1832Ala
  • NP_001394549.1:p.Val1832Ala
  • NP_001394550.1:p.Val1832Ala
  • NP_001394551.1:p.Val1832Ala
  • NP_001394552.1:p.Val1832Ala
  • NP_001394553.1:p.Val1832Ala
  • NP_001394554.1:p.Val1832Ala
  • NP_001394555.1:p.Val1832Ala
  • NP_001394556.1:p.Val1831Ala
  • NP_001394557.1:p.Val1831Ala
  • NP_001394558.1:p.Val1831Ala
  • NP_001394559.1:p.Val1831Ala
  • NP_001394560.1:p.Val1831Ala
  • NP_001394561.1:p.Val1831Ala
  • NP_001394562.1:p.Val1831Ala
  • NP_001394563.1:p.Val1831Ala
  • NP_001394564.1:p.Val1831Ala
  • NP_001394565.1:p.Val1831Ala
  • NP_001394566.1:p.Val1831Ala
  • NP_001394567.1:p.Val1831Ala
  • NP_001394568.1:p.Val1831Ala
  • NP_001394569.1:p.Val1831Ala
  • NP_001394570.1:p.Val1831Ala
  • NP_001394571.1:p.Val1831Ala
  • NP_001394573.1:p.Val1830Ala
  • NP_001394574.1:p.Val1830Ala
  • NP_001394575.1:p.Val1829Ala
  • NP_001394576.1:p.Val1828Ala
  • NP_001394577.1:p.Val1814Ala
  • NP_001394578.1:p.Val1813Ala
  • NP_001394581.1:p.Val1807Ala
  • NP_001394582.1:p.Val1807Ala
  • NP_001394583.1:p.Val1807Ala
  • NP_001394584.1:p.Val1807Ala
  • NP_001394585.1:p.Val1806Ala
  • NP_001394586.1:p.Val1806Ala
  • NP_001394587.1:p.Val1806Ala
  • NP_001394588.1:p.Val1805Ala
  • NP_001394589.1:p.Val1805Ala
  • NP_001394590.1:p.Val1805Ala
  • NP_001394591.1:p.Val1805Ala
  • NP_001394592.1:p.Val1805Ala
  • NP_001394593.1:p.Val1792Ala
  • NP_001394594.1:p.Val1792Ala
  • NP_001394595.1:p.Val1792Ala
  • NP_001394596.1:p.Val1792Ala
  • NP_001394597.1:p.Val1792Ala
  • NP_001394598.1:p.Val1792Ala
  • NP_001394599.1:p.Val1791Ala
  • NP_001394600.1:p.Val1791Ala
  • NP_001394601.1:p.Val1791Ala
  • NP_001394602.1:p.Val1791Ala
  • NP_001394603.1:p.Val1791Ala
  • NP_001394604.1:p.Val1791Ala
  • NP_001394605.1:p.Val1791Ala
  • NP_001394606.1:p.Val1791Ala
  • NP_001394607.1:p.Val1791Ala
  • NP_001394608.1:p.Val1791Ala
  • NP_001394609.1:p.Val1791Ala
  • NP_001394610.1:p.Val1790Ala
  • NP_001394611.1:p.Val1790Ala
  • NP_001394612.1:p.Val1790Ala
  • NP_001394613.1:p.Val1790Ala
  • NP_001394614.1:p.Val1790Ala
  • NP_001394615.1:p.Val1790Ala
  • NP_001394616.1:p.Val1790Ala
  • NP_001394617.1:p.Val1790Ala
  • NP_001394618.1:p.Val1790Ala
  • NP_001394619.1:p.Val1789Ala
  • NP_001394620.1:p.Val1789Ala
  • NP_001394621.1:p.Val1786Ala
  • NP_001394623.1:p.Val1786Ala
  • NP_001394624.1:p.Val1786Ala
  • NP_001394625.1:p.Val1786Ala
  • NP_001394626.1:p.Val1786Ala
  • NP_001394627.1:p.Val1786Ala
  • NP_001394653.1:p.Val1786Ala
  • NP_001394654.1:p.Val1786Ala
  • NP_001394655.1:p.Val1786Ala
  • NP_001394656.1:p.Val1786Ala
  • NP_001394657.1:p.Val1786Ala
  • NP_001394658.1:p.Val1786Ala
  • NP_001394659.1:p.Val1786Ala
  • NP_001394660.1:p.Val1786Ala
  • NP_001394661.1:p.Val1785Ala
  • NP_001394662.1:p.Val1785Ala
  • NP_001394663.1:p.Val1785Ala
  • NP_001394664.1:p.Val1785Ala
  • NP_001394665.1:p.Val1785Ala
  • NP_001394666.1:p.Val1785Ala
  • NP_001394667.1:p.Val1785Ala
  • NP_001394668.1:p.Val1785Ala
  • NP_001394669.1:p.Val1785Ala
  • NP_001394670.1:p.Val1785Ala
  • NP_001394671.1:p.Val1785Ala
  • NP_001394672.1:p.Val1785Ala
  • NP_001394673.1:p.Val1785Ala
  • NP_001394674.1:p.Val1785Ala
  • NP_001394675.1:p.Val1785Ala
  • NP_001394676.1:p.Val1785Ala
  • NP_001394677.1:p.Val1785Ala
  • NP_001394678.1:p.Val1785Ala
  • NP_001394679.1:p.Val1785Ala
  • NP_001394680.1:p.Val1785Ala
  • NP_001394681.1:p.Val1785Ala
  • NP_001394767.1:p.Val1784Ala
  • NP_001394768.1:p.Val1784Ala
  • NP_001394770.1:p.Val1784Ala
  • NP_001394771.1:p.Val1784Ala
  • NP_001394772.1:p.Val1784Ala
  • NP_001394773.1:p.Val1784Ala
  • NP_001394774.1:p.Val1784Ala
  • NP_001394775.1:p.Val1784Ala
  • NP_001394776.1:p.Val1784Ala
  • NP_001394777.1:p.Val1784Ala
  • NP_001394778.1:p.Val1784Ala
  • NP_001394779.1:p.Val1784Ala
  • NP_001394780.1:p.Val1784Ala
  • NP_001394781.1:p.Val1784Ala
  • NP_001394782.1:p.Val1784Ala
  • NP_001394791.1:p.Val1766Ala
  • NP_001394792.1:p.Val1765Ala
  • NP_001394803.1:p.Val1764Ala
  • NP_001394804.1:p.Val1764Ala
  • NP_001394808.1:p.Val1763Ala
  • NP_001394810.1:p.Val1763Ala
  • NP_001394811.1:p.Val1763Ala
  • NP_001394813.1:p.Val1763Ala
  • NP_001394814.1:p.Val1763Ala
  • NP_001394815.1:p.Val1763Ala
  • NP_001394816.1:p.Val1763Ala
  • NP_001394818.1:p.Val1763Ala
  • NP_001394823.1:p.Val1762Ala
  • NP_001394824.1:p.Val1762Ala
  • NP_001394825.1:p.Val1762Ala
  • NP_001394826.1:p.Val1762Ala
  • NP_001394827.1:p.Val1762Ala
  • NP_001394828.1:p.Val1762Ala
  • NP_001394829.1:p.Val1762Ala
  • NP_001394831.1:p.Val1762Ala
  • NP_001394833.1:p.Val1762Ala
  • NP_001394835.1:p.Val1762Ala
  • NP_001394836.1:p.Val1762Ala
  • NP_001394837.1:p.Val1762Ala
  • NP_001394838.1:p.Val1762Ala
  • NP_001394839.1:p.Val1762Ala
  • NP_001394844.1:p.Val1761Ala
  • NP_001394845.1:p.Val1761Ala
  • NP_001394846.1:p.Val1761Ala
  • NP_001394847.1:p.Val1761Ala
  • NP_001394848.1:p.Val1749Ala
  • NP_001394849.1:p.Val1745Ala
  • NP_001394850.1:p.Val1745Ala
  • NP_001394851.1:p.Val1745Ala
  • NP_001394852.1:p.Val1745Ala
  • NP_001394853.1:p.Val1745Ala
  • NP_001394854.1:p.Val1745Ala
  • NP_001394855.1:p.Val1745Ala
  • NP_001394856.1:p.Val1744Ala
  • NP_001394857.1:p.Val1744Ala
  • NP_001394858.1:p.Val1744Ala
  • NP_001394859.1:p.Val1744Ala
  • NP_001394860.1:p.Val1744Ala
  • NP_001394861.1:p.Val1744Ala
  • NP_001394862.1:p.Val1744Ala
  • NP_001394863.1:p.Val1743Ala
  • NP_001394864.1:p.Val1743Ala
  • NP_001394865.1:p.Val1743Ala
  • NP_001394875.1:p.Val1722Ala
  • NP_001394876.1:p.Val1722Ala
  • NP_001394877.1:p.Val1722Ala
  • NP_001394878.1:p.Val1722Ala
  • NP_001394879.1:p.Val1721Ala
  • NP_001394880.1:p.Val1721Ala
  • NP_001394881.1:p.Val1721Ala
  • NP_001394882.1:p.Val1721Ala
  • NP_001394883.1:p.Val1721Ala
  • NP_001394884.1:p.Val1721Ala
  • NP_001394885.1:p.Val1720Ala
  • NP_001394886.1:p.Val1720Ala
  • NP_001394887.1:p.Val1720Ala
  • NP_001394888.1:p.Val1706Ala
  • NP_001394889.1:p.Val1705Ala
  • NP_001394891.1:p.Val1705Ala
  • NP_001394892.1:p.Val1704Ala
  • NP_001394893.1:p.Val1679Ala
  • NP_001394894.1:p.Val1664Ala
  • NP_001394895.1:p.Val1537Ala
  • NP_001394896.1:p.Val1536Ala
  • NP_001394897.1:p.Val965Ala
  • NP_001394898.1:p.Val964Ala
  • NP_001394899.1:p.Val752Ala
  • NP_001394900.1:p.Val752Ala
  • NP_001394901.1:p.Val751Ala
  • NP_001394902.1:p.Val730Ala
  • NP_001394903.1:p.Val730Ala
  • NP_001394904.1:p.Val730Ala
  • NP_001394905.1:p.Val730Ala
  • NP_001394906.1:p.Val730Ala
  • NP_001394907.1:p.Val730Ala
  • NP_001394908.1:p.Val729Ala
  • NP_001394909.1:p.Val729Ala
  • NP_001394910.1:p.Val729Ala
  • NP_001394911.1:p.Val729Ala
  • NP_001394912.1:p.Val729Ala
  • NP_001394913.1:p.Val729Ala
  • NP_001394914.1:p.Val729Ala
  • NP_001394915.1:p.Val729Ala
  • NP_001394919.1:p.Val729Ala
  • NP_001394920.1:p.Val729Ala
  • NP_001394921.1:p.Val729Ala
  • NP_001394922.1:p.Val729Ala
  • NP_001395321.1:p.Val728Ala
  • NP_001395325.1:p.Val728Ala
  • NP_001395326.1:p.Val728Ala
  • NP_001395327.1:p.Val728Ala
  • NP_001395328.1:p.Val728Ala
  • NP_001395329.1:p.Val728Ala
  • NP_001395330.1:p.Val728Ala
  • NP_001395331.1:p.Val728Ala
  • NP_001395332.1:p.Val728Ala
  • NP_001395333.1:p.Val728Ala
  • NP_001395335.1:p.Val727Ala
  • NP_001395336.1:p.Val727Ala
  • NP_001395337.1:p.Val727Ala
  • NP_001395338.1:p.Val726Ala
  • NP_001395339.1:p.Val705Ala
  • NP_001395340.1:p.Val704Ala
  • NP_001395341.1:p.Val703Ala
  • NP_001395342.1:p.Val703Ala
  • NP_001395343.1:p.Val703Ala
  • NP_001395344.1:p.Val703Ala
  • NP_001395345.1:p.Val703Ala
  • NP_001395347.1:p.Val691Ala
  • NP_001395348.1:p.Val691Ala
  • NP_001395349.1:p.Val691Ala
  • NP_001395350.1:p.Val690Ala
  • NP_001395351.1:p.Val690Ala
  • NP_001395352.1:p.Val690Ala
  • NP_001395353.1:p.Val690Ala
  • NP_001395354.1:p.Val689Ala
  • NP_001395355.1:p.Val689Ala
  • NP_001395356.1:p.Val689Ala
  • NP_001395357.1:p.Val689Ala
  • NP_001395358.1:p.Val689Ala
  • NP_001395359.1:p.Val689Ala
  • NP_001395360.1:p.Val689Ala
  • NP_001395361.1:p.Val688Ala
  • NP_001395362.1:p.Val688Ala
  • NP_001395363.1:p.Val688Ala
  • NP_001395364.1:p.Val688Ala
  • NP_001395365.1:p.Val688Ala
  • NP_001395366.1:p.Val688Ala
  • NP_001395367.1:p.Val688Ala
  • NP_001395368.1:p.Val688Ala
  • NP_001395369.1:p.Val688Ala
  • NP_001395370.1:p.Val688Ala
  • NP_001395371.1:p.Val688Ala
  • NP_001395372.1:p.Val688Ala
  • NP_001395373.1:p.Val688Ala
  • NP_001395374.1:p.Val687Ala
  • NP_001395375.1:p.Val687Ala
  • NP_001395376.1:p.Val687Ala
  • NP_001395377.1:p.Val687Ala
  • NP_001395379.1:p.Val687Ala
  • NP_001395380.1:p.Val685Ala
  • NP_001395381.1:p.Val683Ala
  • NP_001395382.1:p.Val683Ala
  • NP_001395383.1:p.Val683Ala
  • NP_001395384.1:p.Val683Ala
  • NP_001395385.1:p.Val683Ala
  • NP_001395386.1:p.Val683Ala
  • NP_001395387.1:p.Val682Ala
  • NP_001395388.1:p.Val682Ala
  • NP_001395389.1:p.Val682Ala
  • NP_001395390.1:p.Val682Ala
  • NP_001395391.1:p.Val682Ala
  • NP_001395392.1:p.Val682Ala
  • NP_001395393.1:p.Val682Ala
  • NP_001395394.1:p.Val682Ala
  • NP_001395395.1:p.Val682Ala
  • NP_001395396.1:p.Val682Ala
  • NP_001395397.1:p.Val681Ala
  • NP_001395398.1:p.Val681Ala
  • NP_001395399.1:p.Val681Ala
  • NP_001395403.1:p.Val663Ala
  • NP_001395404.1:p.Val662Ala
  • NP_001395405.1:p.Val662Ala
  • NP_001395407.1:p.Val660Ala
  • NP_001395408.1:p.Val660Ala
  • NP_001395409.1:p.Val660Ala
  • NP_001395410.1:p.Val659Ala
  • NP_001395411.1:p.Val659Ala
  • NP_001395412.1:p.Val659Ala
  • NP_001395413.1:p.Val659Ala
  • NP_001395414.1:p.Val659Ala
  • NP_001395418.1:p.Val659Ala
  • NP_001395419.1:p.Val659Ala
  • NP_001395420.1:p.Val659Ala
  • NP_001395421.1:p.Val658Ala
  • NP_001395422.1:p.Val658Ala
  • NP_001395423.1:p.Val650Ala
  • NP_001395424.1:p.Val648Ala
  • NP_001395425.1:p.Val642Ala
  • NP_001395426.1:p.Val642Ala
  • NP_001395427.1:p.Val642Ala
  • NP_001395428.1:p.Val642Ala
  • NP_001395429.1:p.Val642Ala
  • NP_001395430.1:p.Val642Ala
  • NP_001395431.1:p.Val641Ala
  • NP_001395432.1:p.Val641Ala
  • NP_001395433.1:p.Val641Ala
  • NP_001395434.1:p.Val640Ala
  • NP_001395435.1:p.Val621Ala
  • NP_001395436.1:p.Val620Ala
  • NP_001395437.1:p.Val617Ala
  • NP_001395438.1:p.Val616Ala
  • NP_001395439.1:p.Val603Ala
  • NP_001395440.1:p.Val602Ala
  • NP_001395441.1:p.Val562Ala
  • NP_001395442.1:p.Val553Ala
  • NP_001395443.1:p.Val421Ala
  • NP_009225.1:p.Val1833Ala
  • NP_009225.1:p.Val1833Ala
  • NP_009228.2:p.Val1786Ala
  • NP_009229.2:p.Val729Ala
  • NP_009229.2:p.Val729Ala
  • NP_009231.2:p.Val1854Ala
  • NP_009235.2:p.Val729Ala
  • LRG_292t1:c.5498T>C
  • LRG_292:g.172212T>C
  • LRG_292p1:p.Val1833Ala
  • NC_000017.10:g.41197789A>G
  • NM_007294.3:c.5498T>C
  • NM_007298.3:c.2186T>C
  • NR_027676.2:n.5675T>C
  • p.V1833A
Protein change:
V1536A
Links:
dbSNP: rs587782340
NCBI 1000 Genomes Browser:
rs587782340
Molecular consequence:
  • NM_007299.4:c.*12T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001407571.1:c.5285T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5564T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5564T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5561T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5561T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5561T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5558T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5558T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5498T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5498T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5498T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5498T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5498T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5498T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5498T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5498T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5492T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5492T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5492T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5492T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5492T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5492T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5492T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5492T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5492T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5492T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5492T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5492T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5492T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5492T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5492T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5492T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5489T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5489T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5486T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5483T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5441T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.5438T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5420T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.5420T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.5420T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.5420T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.5417T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.5417T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.5417T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.5414T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.5414T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.5414T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.5414T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.5414T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.5375T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.5375T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.5375T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.5375T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.5375T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.5375T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.5372T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.5372T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.5372T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.5372T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.5372T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.5372T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.5372T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.5372T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.5372T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.5372T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.5372T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.5369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.5369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.5369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.5369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.5369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.5369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.5369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.5369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.5366T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.5366T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.5297T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.5294T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.5291T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.5291T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.5288T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.5288T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.5288T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.5288T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.5288T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.5288T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.5288T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.5288T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.5285T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.5285T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.5285T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.5285T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.5285T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.5285T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.5285T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.5285T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.5285T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.5285T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.5285T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.5285T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.5285T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.5285T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.5282T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.5282T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.5282T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.5282T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.5246T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.5234T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.5234T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.5234T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.5234T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.5234T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.5234T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.5234T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.5228T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.5228T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.5228T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.5165T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.5165T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.5165T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.5165T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.5162T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.5162T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.5162T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.5162T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.5162T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.5162T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.5159T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.5159T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.5159T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.5117T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.5114T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.5114T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.5111T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.5036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4991T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4610T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4607T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2894T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2891T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.2255T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.2255T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.2252T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.2189T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.2189T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.2189T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.2189T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.2189T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.2189T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.2186T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.2186T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.2186T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.2186T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.2186T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.2186T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.2186T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.2186T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.2186T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.2186T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.2186T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.2186T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.2183T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.2183T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.2183T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.2183T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.2183T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.2183T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.2183T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.2183T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.2183T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.2183T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.2180T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.2180T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.2180T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.2177T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.2114T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.2111T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.2108T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.2108T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.2108T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.2108T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.2108T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.2072T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.2072T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.2072T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.2069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.2069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.2069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.2069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.2066T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.2066T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.2066T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.2066T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.2066T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.2066T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.2066T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.2063T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.2063T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.2063T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.2063T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.2063T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.2063T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.2063T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.2063T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.2063T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.2063T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.2063T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.2063T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.2063T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.2060T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.2060T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.2060T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.2060T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.2060T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.2054T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.2048T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.2048T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.2048T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.2048T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.2048T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.2048T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.2042T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.2042T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.2042T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1988T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1985T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1985T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1979T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1979T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1979T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1976T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1976T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1976T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1976T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1976T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1976T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1976T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1976T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1973T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1973T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1949T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1943T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1919T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1859T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1850T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1847T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1808T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1805T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1685T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1658T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.1262T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5498T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.2186T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5561T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.2186T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5675T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

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
SCV002272230Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 21, 2022) 		germlineclinical testing

PubMed (7)
[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

Functional characterization of BRCA1 sequence variants using a yeast small colony phenotype assay.

Coyne RS, McDonald HB, Edgemon K, Brody LC.

Cancer Biol Ther. 2004 May;3(5):453-7. Epub 2004 May 18.

PubMed [citation]
PMID:
15004537

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.

Carvalho M, Pino MA, Karchin R, Beddor J, Godinho-Netto M, Mesquita RD, Rodarte RS, Vaz DC, Monteiro VA, Manoukian S, Colombo M, Ripamonti CB, Rosenquist R, Suthers G, Borg A, Radice P, Grist SA, Monteiro AN, Billack B.

Mutat Res. 2009 Jan 15;660(1-2):1-11. doi: 10.1016/j.mrfmmm.2008.09.017. Epub 2008 Oct 17.

PubMed [citation]
PMID:
18992264
PMCID:
PMC2682550
See all PubMed Citations (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002272230.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

ClinVar contains an entry for this variant (Variation ID: 142256). 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 expected to disrupt BRCA1 protein function. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399). This variant disrupts the p.Val1833 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15004537, 18992264, 20378548, 20526115, 28781887, 30209399). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1833 of the BRCA1 protein (p.Val1833Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions.

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

Last Updated: Oct 8, 2024