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NM_007294.4(BRCA1):c.1768A>G (p.Ser590Gly) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 26, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000111676.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.1768A>G (p.Ser590Gly)]

NM_007294.4(BRCA1):c.1768A>G (p.Ser590Gly)

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.1768A>G (p.Ser590Gly)
HGVS:
  • NC_000017.11:g.43093763T>C
  • NG_005905.2:g.124221A>G
  • NM_001407571.1:c.1555A>G
  • NM_001407581.1:c.1768A>G
  • NM_001407582.1:c.1768A>G
  • NM_001407583.1:c.1768A>G
  • NM_001407585.1:c.1768A>G
  • NM_001407587.1:c.1765A>G
  • NM_001407590.1:c.1765A>G
  • NM_001407591.1:c.1765A>G
  • NM_001407593.1:c.1768A>G
  • NM_001407594.1:c.1768A>G
  • NM_001407596.1:c.1768A>G
  • NM_001407597.1:c.1768A>G
  • NM_001407598.1:c.1768A>G
  • NM_001407602.1:c.1768A>G
  • NM_001407603.1:c.1768A>G
  • NM_001407605.1:c.1768A>G
  • NM_001407610.1:c.1765A>G
  • NM_001407611.1:c.1765A>G
  • NM_001407612.1:c.1765A>G
  • NM_001407613.1:c.1765A>G
  • NM_001407614.1:c.1765A>G
  • NM_001407615.1:c.1765A>G
  • NM_001407616.1:c.1768A>G
  • NM_001407617.1:c.1768A>G
  • NM_001407618.1:c.1768A>G
  • NM_001407619.1:c.1768A>G
  • NM_001407620.1:c.1768A>G
  • NM_001407621.1:c.1768A>G
  • NM_001407622.1:c.1768A>G
  • NM_001407623.1:c.1768A>G
  • NM_001407624.1:c.1768A>G
  • NM_001407625.1:c.1768A>G
  • NM_001407626.1:c.1768A>G
  • NM_001407627.1:c.1765A>G
  • NM_001407628.1:c.1765A>G
  • NM_001407629.1:c.1765A>G
  • NM_001407630.1:c.1765A>G
  • NM_001407631.1:c.1765A>G
  • NM_001407632.1:c.1765A>G
  • NM_001407633.1:c.1765A>G
  • NM_001407634.1:c.1765A>G
  • NM_001407635.1:c.1765A>G
  • NM_001407636.1:c.1765A>G
  • NM_001407637.1:c.1765A>G
  • NM_001407638.1:c.1765A>G
  • NM_001407639.1:c.1768A>G
  • NM_001407640.1:c.1768A>G
  • NM_001407641.1:c.1768A>G
  • NM_001407642.1:c.1768A>G
  • NM_001407644.1:c.1765A>G
  • NM_001407645.1:c.1765A>G
  • NM_001407646.1:c.1759A>G
  • NM_001407647.1:c.1759A>G
  • NM_001407648.1:c.1645A>G
  • NM_001407649.1:c.1642A>G
  • NM_001407652.1:c.1768A>G
  • NM_001407653.1:c.1690A>G
  • NM_001407654.1:c.1690A>G
  • NM_001407655.1:c.1690A>G
  • NM_001407656.1:c.1690A>G
  • NM_001407657.1:c.1690A>G
  • NM_001407658.1:c.1690A>G
  • NM_001407659.1:c.1687A>G
  • NM_001407660.1:c.1687A>G
  • NM_001407661.1:c.1687A>G
  • NM_001407662.1:c.1687A>G
  • NM_001407663.1:c.1690A>G
  • NM_001407664.1:c.1645A>G
  • NM_001407665.1:c.1645A>G
  • NM_001407666.1:c.1645A>G
  • NM_001407667.1:c.1645A>G
  • NM_001407668.1:c.1645A>G
  • NM_001407669.1:c.1645A>G
  • NM_001407670.1:c.1642A>G
  • NM_001407671.1:c.1642A>G
  • NM_001407672.1:c.1642A>G
  • NM_001407673.1:c.1642A>G
  • NM_001407674.1:c.1645A>G
  • NM_001407675.1:c.1645A>G
  • NM_001407676.1:c.1645A>G
  • NM_001407677.1:c.1645A>G
  • NM_001407678.1:c.1645A>G
  • NM_001407679.1:c.1645A>G
  • NM_001407680.1:c.1645A>G
  • NM_001407681.1:c.1645A>G
  • NM_001407682.1:c.1645A>G
  • NM_001407683.1:c.1645A>G
  • NM_001407684.1:c.1768A>G
  • NM_001407685.1:c.1642A>G
  • NM_001407686.1:c.1642A>G
  • NM_001407687.1:c.1642A>G
  • NM_001407688.1:c.1642A>G
  • NM_001407689.1:c.1642A>G
  • NM_001407690.1:c.1642A>G
  • NM_001407691.1:c.1642A>G
  • NM_001407692.1:c.1627A>G
  • NM_001407694.1:c.1627A>G
  • NM_001407695.1:c.1627A>G
  • NM_001407696.1:c.1627A>G
  • NM_001407697.1:c.1627A>G
  • NM_001407698.1:c.1627A>G
  • NM_001407724.1:c.1627A>G
  • NM_001407725.1:c.1627A>G
  • NM_001407726.1:c.1627A>G
  • NM_001407727.1:c.1627A>G
  • NM_001407728.1:c.1627A>G
  • NM_001407729.1:c.1627A>G
  • NM_001407730.1:c.1627A>G
  • NM_001407731.1:c.1627A>G
  • NM_001407732.1:c.1627A>G
  • NM_001407733.1:c.1627A>G
  • NM_001407734.1:c.1627A>G
  • NM_001407735.1:c.1627A>G
  • NM_001407736.1:c.1627A>G
  • NM_001407737.1:c.1627A>G
  • NM_001407738.1:c.1627A>G
  • NM_001407739.1:c.1627A>G
  • NM_001407740.1:c.1624A>G
  • NM_001407741.1:c.1624A>G
  • NM_001407742.1:c.1624A>G
  • NM_001407743.1:c.1624A>G
  • NM_001407744.1:c.1624A>G
  • NM_001407745.1:c.1624A>G
  • NM_001407746.1:c.1624A>G
  • NM_001407747.1:c.1624A>G
  • NM_001407748.1:c.1624A>G
  • NM_001407749.1:c.1624A>G
  • NM_001407750.1:c.1627A>G
  • NM_001407751.1:c.1627A>G
  • NM_001407752.1:c.1627A>G
  • NM_001407838.1:c.1624A>G
  • NM_001407839.1:c.1624A>G
  • NM_001407841.1:c.1624A>G
  • NM_001407842.1:c.1624A>G
  • NM_001407843.1:c.1624A>G
  • NM_001407844.1:c.1624A>G
  • NM_001407845.1:c.1624A>G
  • NM_001407846.1:c.1624A>G
  • NM_001407847.1:c.1624A>G
  • NM_001407848.1:c.1624A>G
  • NM_001407849.1:c.1624A>G
  • NM_001407850.1:c.1627A>G
  • NM_001407851.1:c.1627A>G
  • NM_001407852.1:c.1627A>G
  • NM_001407853.1:c.1555A>G
  • NM_001407854.1:c.1768A>G
  • NM_001407858.1:c.1768A>G
  • NM_001407859.1:c.1768A>G
  • NM_001407860.1:c.1765A>G
  • NM_001407861.1:c.1765A>G
  • NM_001407862.1:c.1567A>G
  • NM_001407863.1:c.1645A>G
  • NM_001407874.1:c.1564A>G
  • NM_001407875.1:c.1564A>G
  • NM_001407879.1:c.1558A>G
  • NM_001407881.1:c.1558A>G
  • NM_001407882.1:c.1558A>G
  • NM_001407884.1:c.1558A>G
  • NM_001407885.1:c.1558A>G
  • NM_001407886.1:c.1558A>G
  • NM_001407887.1:c.1558A>G
  • NM_001407889.1:c.1558A>G
  • NM_001407894.1:c.1555A>G
  • NM_001407895.1:c.1555A>G
  • NM_001407896.1:c.1555A>G
  • NM_001407897.1:c.1555A>G
  • NM_001407898.1:c.1555A>G
  • NM_001407899.1:c.1555A>G
  • NM_001407900.1:c.1558A>G
  • NM_001407902.1:c.1558A>G
  • NM_001407904.1:c.1558A>G
  • NM_001407906.1:c.1558A>G
  • NM_001407907.1:c.1558A>G
  • NM_001407908.1:c.1558A>G
  • NM_001407909.1:c.1558A>G
  • NM_001407910.1:c.1558A>G
  • NM_001407915.1:c.1555A>G
  • NM_001407916.1:c.1555A>G
  • NM_001407917.1:c.1555A>G
  • NM_001407918.1:c.1555A>G
  • NM_001407919.1:c.1645A>G
  • NM_001407920.1:c.1504A>G
  • NM_001407921.1:c.1504A>G
  • NM_001407922.1:c.1504A>G
  • NM_001407923.1:c.1504A>G
  • NM_001407924.1:c.1504A>G
  • NM_001407925.1:c.1504A>G
  • NM_001407926.1:c.1504A>G
  • NM_001407927.1:c.1504A>G
  • NM_001407928.1:c.1504A>G
  • NM_001407929.1:c.1504A>G
  • NM_001407930.1:c.1501A>G
  • NM_001407931.1:c.1501A>G
  • NM_001407932.1:c.1501A>G
  • NM_001407933.1:c.1504A>G
  • NM_001407934.1:c.1501A>G
  • NM_001407935.1:c.1504A>G
  • NM_001407936.1:c.1501A>G
  • NM_001407937.1:c.1645A>G
  • NM_001407938.1:c.1645A>G
  • NM_001407939.1:c.1645A>G
  • NM_001407940.1:c.1642A>G
  • NM_001407941.1:c.1642A>G
  • NM_001407942.1:c.1627A>G
  • NM_001407943.1:c.1624A>G
  • NM_001407944.1:c.1627A>G
  • NM_001407945.1:c.1627A>G
  • NM_001407946.1:c.1435A>G
  • NM_001407947.1:c.1435A>G
  • NM_001407948.1:c.1435A>G
  • NM_001407949.1:c.1435A>G
  • NM_001407950.1:c.1435A>G
  • NM_001407951.1:c.1435A>G
  • NM_001407952.1:c.1435A>G
  • NM_001407953.1:c.1435A>G
  • NM_001407954.1:c.1432A>G
  • NM_001407955.1:c.1432A>G
  • NM_001407956.1:c.1432A>G
  • NM_001407957.1:c.1435A>G
  • NM_001407958.1:c.1432A>G
  • NM_001407959.1:c.1387A>G
  • NM_001407960.1:c.1387A>G
  • NM_001407962.1:c.1384A>G
  • NM_001407963.1:c.1387A>G
  • NM_001407964.1:c.1624A>G
  • NM_001407965.1:c.1264A>G
  • NM_001407966.1:c.880A>G
  • NM_001407967.1:c.880A>G
  • NM_001407968.1:c.787+981A>G
  • NM_001407969.1:c.787+981A>G
  • NM_001407970.1:c.787+981A>G
  • NM_001407971.1:c.787+981A>G
  • NM_001407972.1:c.784+981A>G
  • NM_001407973.1:c.787+981A>G
  • NM_001407974.1:c.787+981A>G
  • NM_001407975.1:c.787+981A>G
  • NM_001407976.1:c.787+981A>G
  • NM_001407977.1:c.787+981A>G
  • NM_001407978.1:c.787+981A>G
  • NM_001407979.1:c.787+981A>G
  • NM_001407980.1:c.787+981A>G
  • NM_001407981.1:c.787+981A>G
  • NM_001407982.1:c.787+981A>G
  • NM_001407983.1:c.787+981A>G
  • NM_001407984.1:c.784+981A>G
  • NM_001407985.1:c.784+981A>G
  • NM_001407986.1:c.784+981A>G
  • NM_001407990.1:c.787+981A>G
  • NM_001407991.1:c.784+981A>G
  • NM_001407992.1:c.784+981A>G
  • NM_001407993.1:c.787+981A>G
  • NM_001408392.1:c.784+981A>G
  • NM_001408396.1:c.784+981A>G
  • NM_001408397.1:c.784+981A>G
  • NM_001408398.1:c.784+981A>G
  • NM_001408399.1:c.784+981A>G
  • NM_001408400.1:c.784+981A>G
  • NM_001408401.1:c.784+981A>G
  • NM_001408402.1:c.784+981A>G
  • NM_001408403.1:c.787+981A>G
  • NM_001408404.1:c.787+981A>G
  • NM_001408406.1:c.790+978A>G
  • NM_001408407.1:c.784+981A>G
  • NM_001408408.1:c.778+981A>G
  • NM_001408409.1:c.709+981A>G
  • NM_001408410.1:c.646+981A>G
  • NM_001408411.1:c.709+981A>G
  • NM_001408412.1:c.709+981A>G
  • NM_001408413.1:c.706+981A>G
  • NM_001408414.1:c.709+981A>G
  • NM_001408415.1:c.709+981A>G
  • NM_001408416.1:c.706+981A>G
  • NM_001408418.1:c.670+2083A>G
  • NM_001408419.1:c.670+2083A>G
  • NM_001408420.1:c.670+2083A>G
  • NM_001408421.1:c.667+2083A>G
  • NM_001408422.1:c.670+2083A>G
  • NM_001408423.1:c.670+2083A>G
  • NM_001408424.1:c.667+2083A>G
  • NM_001408425.1:c.664+981A>G
  • NM_001408426.1:c.664+981A>G
  • NM_001408427.1:c.664+981A>G
  • NM_001408428.1:c.664+981A>G
  • NM_001408429.1:c.664+981A>G
  • NM_001408430.1:c.664+981A>G
  • NM_001408431.1:c.667+2083A>G
  • NM_001408432.1:c.661+981A>G
  • NM_001408433.1:c.661+981A>G
  • NM_001408434.1:c.661+981A>G
  • NM_001408435.1:c.661+981A>G
  • NM_001408436.1:c.664+981A>G
  • NM_001408437.1:c.664+981A>G
  • NM_001408438.1:c.664+981A>G
  • NM_001408439.1:c.664+981A>G
  • NM_001408440.1:c.664+981A>G
  • NM_001408441.1:c.664+981A>G
  • NM_001408442.1:c.664+981A>G
  • NM_001408443.1:c.664+981A>G
  • NM_001408444.1:c.664+981A>G
  • NM_001408445.1:c.661+981A>G
  • NM_001408446.1:c.661+981A>G
  • NM_001408447.1:c.661+981A>G
  • NM_001408448.1:c.661+981A>G
  • NM_001408450.1:c.661+981A>G
  • NM_001408451.1:c.652+981A>G
  • NM_001408452.1:c.646+981A>G
  • NM_001408453.1:c.646+981A>G
  • NM_001408454.1:c.646+981A>G
  • NM_001408455.1:c.646+981A>G
  • NM_001408456.1:c.646+981A>G
  • NM_001408457.1:c.646+981A>G
  • NM_001408458.1:c.646+981A>G
  • NM_001408459.1:c.646+981A>G
  • NM_001408460.1:c.646+981A>G
  • NM_001408461.1:c.646+981A>G
  • NM_001408462.1:c.643+981A>G
  • NM_001408463.1:c.643+981A>G
  • NM_001408464.1:c.643+981A>G
  • NM_001408465.1:c.643+981A>G
  • NM_001408466.1:c.646+981A>G
  • NM_001408467.1:c.646+981A>G
  • NM_001408468.1:c.643+981A>G
  • NM_001408469.1:c.646+981A>G
  • NM_001408470.1:c.643+981A>G
  • NM_001408472.1:c.787+981A>G
  • NM_001408473.1:c.784+981A>G
  • NM_001408474.1:c.586+981A>G
  • NM_001408475.1:c.583+981A>G
  • NM_001408476.1:c.586+981A>G
  • NM_001408478.1:c.577+981A>G
  • NM_001408479.1:c.577+981A>G
  • NM_001408480.1:c.577+981A>G
  • NM_001408481.1:c.577+981A>G
  • NM_001408482.1:c.577+981A>G
  • NM_001408483.1:c.577+981A>G
  • NM_001408484.1:c.577+981A>G
  • NM_001408485.1:c.577+981A>G
  • NM_001408489.1:c.577+981A>G
  • NM_001408490.1:c.574+981A>G
  • NM_001408491.1:c.574+981A>G
  • NM_001408492.1:c.577+981A>G
  • NM_001408493.1:c.574+981A>G
  • NM_001408494.1:c.548-2731A>G
  • NM_001408495.1:c.545-2731A>G
  • NM_001408496.1:c.523+981A>G
  • NM_001408497.1:c.523+981A>G
  • NM_001408498.1:c.523+981A>G
  • NM_001408499.1:c.523+981A>G
  • NM_001408500.1:c.523+981A>G
  • NM_001408501.1:c.523+981A>G
  • NM_001408502.1:c.454+981A>G
  • NM_001408503.1:c.520+981A>G
  • NM_001408504.1:c.520+981A>G
  • NM_001408505.1:c.520+981A>G
  • NM_001408506.1:c.460+2083A>G
  • NM_001408507.1:c.460+2083A>G
  • NM_001408508.1:c.451+981A>G
  • NM_001408509.1:c.451+981A>G
  • NM_001408510.1:c.406+981A>G
  • NM_001408511.1:c.404-2731A>G
  • NM_001408512.1:c.283+981A>G
  • NM_001408513.1:c.577+981A>G
  • NM_001408514.1:c.577+981A>G
  • NM_007294.4:c.1768A>GMANE SELECT
  • NM_007297.4:c.1627A>G
  • NM_007298.4:c.787+981A>G
  • NM_007299.4:c.787+981A>G
  • NM_007300.4:c.1768A>G
  • NP_001394500.1:p.Ser519Gly
  • NP_001394510.1:p.Ser590Gly
  • NP_001394511.1:p.Ser590Gly
  • NP_001394512.1:p.Ser590Gly
  • NP_001394514.1:p.Ser590Gly
  • NP_001394516.1:p.Ser589Gly
  • NP_001394519.1:p.Ser589Gly
  • NP_001394520.1:p.Ser589Gly
  • NP_001394522.1:p.Ser590Gly
  • NP_001394523.1:p.Ser590Gly
  • NP_001394525.1:p.Ser590Gly
  • NP_001394526.1:p.Ser590Gly
  • NP_001394527.1:p.Ser590Gly
  • NP_001394531.1:p.Ser590Gly
  • NP_001394532.1:p.Ser590Gly
  • NP_001394534.1:p.Ser590Gly
  • NP_001394539.1:p.Ser589Gly
  • NP_001394540.1:p.Ser589Gly
  • NP_001394541.1:p.Ser589Gly
  • NP_001394542.1:p.Ser589Gly
  • NP_001394543.1:p.Ser589Gly
  • NP_001394544.1:p.Ser589Gly
  • NP_001394545.1:p.Ser590Gly
  • NP_001394546.1:p.Ser590Gly
  • NP_001394547.1:p.Ser590Gly
  • NP_001394548.1:p.Ser590Gly
  • NP_001394549.1:p.Ser590Gly
  • NP_001394550.1:p.Ser590Gly
  • NP_001394551.1:p.Ser590Gly
  • NP_001394552.1:p.Ser590Gly
  • NP_001394553.1:p.Ser590Gly
  • NP_001394554.1:p.Ser590Gly
  • NP_001394555.1:p.Ser590Gly
  • NP_001394556.1:p.Ser589Gly
  • NP_001394557.1:p.Ser589Gly
  • NP_001394558.1:p.Ser589Gly
  • NP_001394559.1:p.Ser589Gly
  • NP_001394560.1:p.Ser589Gly
  • NP_001394561.1:p.Ser589Gly
  • NP_001394562.1:p.Ser589Gly
  • NP_001394563.1:p.Ser589Gly
  • NP_001394564.1:p.Ser589Gly
  • NP_001394565.1:p.Ser589Gly
  • NP_001394566.1:p.Ser589Gly
  • NP_001394567.1:p.Ser589Gly
  • NP_001394568.1:p.Ser590Gly
  • NP_001394569.1:p.Ser590Gly
  • NP_001394570.1:p.Ser590Gly
  • NP_001394571.1:p.Ser590Gly
  • NP_001394573.1:p.Ser589Gly
  • NP_001394574.1:p.Ser589Gly
  • NP_001394575.1:p.Ser587Gly
  • NP_001394576.1:p.Ser587Gly
  • NP_001394577.1:p.Ser549Gly
  • NP_001394578.1:p.Ser548Gly
  • NP_001394581.1:p.Ser590Gly
  • NP_001394582.1:p.Ser564Gly
  • NP_001394583.1:p.Ser564Gly
  • NP_001394584.1:p.Ser564Gly
  • NP_001394585.1:p.Ser564Gly
  • NP_001394586.1:p.Ser564Gly
  • NP_001394587.1:p.Ser564Gly
  • NP_001394588.1:p.Ser563Gly
  • NP_001394589.1:p.Ser563Gly
  • NP_001394590.1:p.Ser563Gly
  • NP_001394591.1:p.Ser563Gly
  • NP_001394592.1:p.Ser564Gly
  • NP_001394593.1:p.Ser549Gly
  • NP_001394594.1:p.Ser549Gly
  • NP_001394595.1:p.Ser549Gly
  • NP_001394596.1:p.Ser549Gly
  • NP_001394597.1:p.Ser549Gly
  • NP_001394598.1:p.Ser549Gly
  • NP_001394599.1:p.Ser548Gly
  • NP_001394600.1:p.Ser548Gly
  • NP_001394601.1:p.Ser548Gly
  • NP_001394602.1:p.Ser548Gly
  • NP_001394603.1:p.Ser549Gly
  • NP_001394604.1:p.Ser549Gly
  • NP_001394605.1:p.Ser549Gly
  • NP_001394606.1:p.Ser549Gly
  • NP_001394607.1:p.Ser549Gly
  • NP_001394608.1:p.Ser549Gly
  • NP_001394609.1:p.Ser549Gly
  • NP_001394610.1:p.Ser549Gly
  • NP_001394611.1:p.Ser549Gly
  • NP_001394612.1:p.Ser549Gly
  • NP_001394613.1:p.Ser590Gly
  • NP_001394614.1:p.Ser548Gly
  • NP_001394615.1:p.Ser548Gly
  • NP_001394616.1:p.Ser548Gly
  • NP_001394617.1:p.Ser548Gly
  • NP_001394618.1:p.Ser548Gly
  • NP_001394619.1:p.Ser548Gly
  • NP_001394620.1:p.Ser548Gly
  • NP_001394621.1:p.Ser543Gly
  • NP_001394623.1:p.Ser543Gly
  • NP_001394624.1:p.Ser543Gly
  • NP_001394625.1:p.Ser543Gly
  • NP_001394626.1:p.Ser543Gly
  • NP_001394627.1:p.Ser543Gly
  • NP_001394653.1:p.Ser543Gly
  • NP_001394654.1:p.Ser543Gly
  • NP_001394655.1:p.Ser543Gly
  • NP_001394656.1:p.Ser543Gly
  • NP_001394657.1:p.Ser543Gly
  • NP_001394658.1:p.Ser543Gly
  • NP_001394659.1:p.Ser543Gly
  • NP_001394660.1:p.Ser543Gly
  • NP_001394661.1:p.Ser543Gly
  • NP_001394662.1:p.Ser543Gly
  • NP_001394663.1:p.Ser543Gly
  • NP_001394664.1:p.Ser543Gly
  • NP_001394665.1:p.Ser543Gly
  • NP_001394666.1:p.Ser543Gly
  • NP_001394667.1:p.Ser543Gly
  • NP_001394668.1:p.Ser543Gly
  • NP_001394669.1:p.Ser542Gly
  • NP_001394670.1:p.Ser542Gly
  • NP_001394671.1:p.Ser542Gly
  • NP_001394672.1:p.Ser542Gly
  • NP_001394673.1:p.Ser542Gly
  • NP_001394674.1:p.Ser542Gly
  • NP_001394675.1:p.Ser542Gly
  • NP_001394676.1:p.Ser542Gly
  • NP_001394677.1:p.Ser542Gly
  • NP_001394678.1:p.Ser542Gly
  • NP_001394679.1:p.Ser543Gly
  • NP_001394680.1:p.Ser543Gly
  • NP_001394681.1:p.Ser543Gly
  • NP_001394767.1:p.Ser542Gly
  • NP_001394768.1:p.Ser542Gly
  • NP_001394770.1:p.Ser542Gly
  • NP_001394771.1:p.Ser542Gly
  • NP_001394772.1:p.Ser542Gly
  • NP_001394773.1:p.Ser542Gly
  • NP_001394774.1:p.Ser542Gly
  • NP_001394775.1:p.Ser542Gly
  • NP_001394776.1:p.Ser542Gly
  • NP_001394777.1:p.Ser542Gly
  • NP_001394778.1:p.Ser542Gly
  • NP_001394779.1:p.Ser543Gly
  • NP_001394780.1:p.Ser543Gly
  • NP_001394781.1:p.Ser543Gly
  • NP_001394782.1:p.Ser519Gly
  • NP_001394783.1:p.Ser590Gly
  • NP_001394787.1:p.Ser590Gly
  • NP_001394788.1:p.Ser590Gly
  • NP_001394789.1:p.Ser589Gly
  • NP_001394790.1:p.Ser589Gly
  • NP_001394791.1:p.Ser523Gly
  • NP_001394792.1:p.Ser549Gly
  • NP_001394803.1:p.Ser522Gly
  • NP_001394804.1:p.Ser522Gly
  • NP_001394808.1:p.Ser520Gly
  • NP_001394810.1:p.Ser520Gly
  • NP_001394811.1:p.Ser520Gly
  • NP_001394813.1:p.Ser520Gly
  • NP_001394814.1:p.Ser520Gly
  • NP_001394815.1:p.Ser520Gly
  • NP_001394816.1:p.Ser520Gly
  • NP_001394818.1:p.Ser520Gly
  • NP_001394823.1:p.Ser519Gly
  • NP_001394824.1:p.Ser519Gly
  • NP_001394825.1:p.Ser519Gly
  • NP_001394826.1:p.Ser519Gly
  • NP_001394827.1:p.Ser519Gly
  • NP_001394828.1:p.Ser519Gly
  • NP_001394829.1:p.Ser520Gly
  • NP_001394831.1:p.Ser520Gly
  • NP_001394833.1:p.Ser520Gly
  • NP_001394835.1:p.Ser520Gly
  • NP_001394836.1:p.Ser520Gly
  • NP_001394837.1:p.Ser520Gly
  • NP_001394838.1:p.Ser520Gly
  • NP_001394839.1:p.Ser520Gly
  • NP_001394844.1:p.Ser519Gly
  • NP_001394845.1:p.Ser519Gly
  • NP_001394846.1:p.Ser519Gly
  • NP_001394847.1:p.Ser519Gly
  • NP_001394848.1:p.Ser549Gly
  • NP_001394849.1:p.Ser502Gly
  • NP_001394850.1:p.Ser502Gly
  • NP_001394851.1:p.Ser502Gly
  • NP_001394852.1:p.Ser502Gly
  • NP_001394853.1:p.Ser502Gly
  • NP_001394854.1:p.Ser502Gly
  • NP_001394855.1:p.Ser502Gly
  • NP_001394856.1:p.Ser502Gly
  • NP_001394857.1:p.Ser502Gly
  • NP_001394858.1:p.Ser502Gly
  • NP_001394859.1:p.Ser501Gly
  • NP_001394860.1:p.Ser501Gly
  • NP_001394861.1:p.Ser501Gly
  • NP_001394862.1:p.Ser502Gly
  • NP_001394863.1:p.Ser501Gly
  • NP_001394864.1:p.Ser502Gly
  • NP_001394865.1:p.Ser501Gly
  • NP_001394866.1:p.Ser549Gly
  • NP_001394867.1:p.Ser549Gly
  • NP_001394868.1:p.Ser549Gly
  • NP_001394869.1:p.Ser548Gly
  • NP_001394870.1:p.Ser548Gly
  • NP_001394871.1:p.Ser543Gly
  • NP_001394872.1:p.Ser542Gly
  • NP_001394873.1:p.Ser543Gly
  • NP_001394874.1:p.Ser543Gly
  • NP_001394875.1:p.Ser479Gly
  • NP_001394876.1:p.Ser479Gly
  • NP_001394877.1:p.Ser479Gly
  • NP_001394878.1:p.Ser479Gly
  • NP_001394879.1:p.Ser479Gly
  • NP_001394880.1:p.Ser479Gly
  • NP_001394881.1:p.Ser479Gly
  • NP_001394882.1:p.Ser479Gly
  • NP_001394883.1:p.Ser478Gly
  • NP_001394884.1:p.Ser478Gly
  • NP_001394885.1:p.Ser478Gly
  • NP_001394886.1:p.Ser479Gly
  • NP_001394887.1:p.Ser478Gly
  • NP_001394888.1:p.Ser463Gly
  • NP_001394889.1:p.Ser463Gly
  • NP_001394891.1:p.Ser462Gly
  • NP_001394892.1:p.Ser463Gly
  • NP_001394893.1:p.Ser542Gly
  • NP_001394894.1:p.Ser422Gly
  • NP_001394895.1:p.Ser294Gly
  • NP_001394896.1:p.Ser294Gly
  • NP_009225.1:p.Ser590Gly
  • NP_009225.1:p.Ser590Gly
  • NP_009228.2:p.Ser543Gly
  • NP_009231.2:p.Ser590Gly
  • LRG_292t1:c.1768A>G
  • LRG_292:g.124221A>G
  • LRG_292p1:p.Ser590Gly
  • NC_000017.10:g.41245780T>C
  • NM_007294.3:c.1768A>G
  • NR_027676.1:n.1904A>G
  • U14680.1:n.1887A>G
Protein change:
S294G
Links:
dbSNP: rs80357454
NCBI 1000 Genomes Browser:
rs80357454
Molecular consequence:
  • NM_001407968.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+978A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+2083A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+2083A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+2083A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+2083A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+2083A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+2083A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+2083A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+2083A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2731A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2731A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+2083A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+2083A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2731A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+981A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1555A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1555A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.1765A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1555A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1555A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1555A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1555A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1555A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1555A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1555A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1555A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1555A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1555A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1435A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1435A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1435A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1435A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1435A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1435A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1435A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1435A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1435A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1387A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1387A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1384A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1387A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1264A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.880A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.880A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000144174Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(Feb 20, 2004) 		germlineclinical testing

SCV004818285All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Jun 26, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided108544not providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, et al.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

PubMed [citation]
PMID:
31131967
PMCID:
PMC6772163

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144174.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004818285.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

This missense variant replaces serine with glycine at codon 590 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in a multifactorial analysis with likelihood ratios for pathogenicity based on co-occurrence with a pathogenic covariant and family history of 1.0331 and 1.5378, respectively (PMID: 31131967). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024