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NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 9, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000775173.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly)]

NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly)

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.1927A>G (p.Ser643Gly)
HGVS:
  • NC_000017.11:g.43093604T>C
  • NG_005905.2:g.124380A>G
  • NM_001407571.1:c.1714A>G
  • NM_001407581.1:c.1927A>G
  • NM_001407582.1:c.1927A>G
  • NM_001407583.1:c.1927A>G
  • NM_001407585.1:c.1927A>G
  • NM_001407587.1:c.1924A>G
  • NM_001407590.1:c.1924A>G
  • NM_001407591.1:c.1924A>G
  • NM_001407593.1:c.1927A>G
  • NM_001407594.1:c.1927A>G
  • NM_001407596.1:c.1927A>G
  • NM_001407597.1:c.1927A>G
  • NM_001407598.1:c.1927A>G
  • NM_001407602.1:c.1927A>G
  • NM_001407603.1:c.1927A>G
  • NM_001407605.1:c.1927A>G
  • NM_001407610.1:c.1924A>G
  • NM_001407611.1:c.1924A>G
  • NM_001407612.1:c.1924A>G
  • NM_001407613.1:c.1924A>G
  • NM_001407614.1:c.1924A>G
  • NM_001407615.1:c.1924A>G
  • NM_001407616.1:c.1927A>G
  • NM_001407617.1:c.1927A>G
  • NM_001407618.1:c.1927A>G
  • NM_001407619.1:c.1927A>G
  • NM_001407620.1:c.1927A>G
  • NM_001407621.1:c.1927A>G
  • NM_001407622.1:c.1927A>G
  • NM_001407623.1:c.1927A>G
  • NM_001407624.1:c.1927A>G
  • NM_001407625.1:c.1927A>G
  • NM_001407626.1:c.1927A>G
  • NM_001407627.1:c.1924A>G
  • NM_001407628.1:c.1924A>G
  • NM_001407629.1:c.1924A>G
  • NM_001407630.1:c.1924A>G
  • NM_001407631.1:c.1924A>G
  • NM_001407632.1:c.1924A>G
  • NM_001407633.1:c.1924A>G
  • NM_001407634.1:c.1924A>G
  • NM_001407635.1:c.1924A>G
  • NM_001407636.1:c.1924A>G
  • NM_001407637.1:c.1924A>G
  • NM_001407638.1:c.1924A>G
  • NM_001407639.1:c.1927A>G
  • NM_001407640.1:c.1927A>G
  • NM_001407641.1:c.1927A>G
  • NM_001407642.1:c.1927A>G
  • NM_001407644.1:c.1924A>G
  • NM_001407645.1:c.1924A>G
  • NM_001407646.1:c.1918A>G
  • NM_001407647.1:c.1918A>G
  • NM_001407648.1:c.1804A>G
  • NM_001407649.1:c.1801A>G
  • NM_001407652.1:c.1927A>G
  • NM_001407653.1:c.1849A>G
  • NM_001407654.1:c.1849A>G
  • NM_001407655.1:c.1849A>G
  • NM_001407656.1:c.1849A>G
  • NM_001407657.1:c.1849A>G
  • NM_001407658.1:c.1849A>G
  • NM_001407659.1:c.1846A>G
  • NM_001407660.1:c.1846A>G
  • NM_001407661.1:c.1846A>G
  • NM_001407662.1:c.1846A>G
  • NM_001407663.1:c.1849A>G
  • NM_001407664.1:c.1804A>G
  • NM_001407665.1:c.1804A>G
  • NM_001407666.1:c.1804A>G
  • NM_001407667.1:c.1804A>G
  • NM_001407668.1:c.1804A>G
  • NM_001407669.1:c.1804A>G
  • NM_001407670.1:c.1801A>G
  • NM_001407671.1:c.1801A>G
  • NM_001407672.1:c.1801A>G
  • NM_001407673.1:c.1801A>G
  • NM_001407674.1:c.1804A>G
  • NM_001407675.1:c.1804A>G
  • NM_001407676.1:c.1804A>G
  • NM_001407677.1:c.1804A>G
  • NM_001407678.1:c.1804A>G
  • NM_001407679.1:c.1804A>G
  • NM_001407680.1:c.1804A>G
  • NM_001407681.1:c.1804A>G
  • NM_001407682.1:c.1804A>G
  • NM_001407683.1:c.1804A>G
  • NM_001407684.1:c.1927A>G
  • NM_001407685.1:c.1801A>G
  • NM_001407686.1:c.1801A>G
  • NM_001407687.1:c.1801A>G
  • NM_001407688.1:c.1801A>G
  • NM_001407689.1:c.1801A>G
  • NM_001407690.1:c.1801A>G
  • NM_001407691.1:c.1801A>G
  • NM_001407692.1:c.1786A>G
  • NM_001407694.1:c.1786A>G
  • NM_001407695.1:c.1786A>G
  • NM_001407696.1:c.1786A>G
  • NM_001407697.1:c.1786A>G
  • NM_001407698.1:c.1786A>G
  • NM_001407724.1:c.1786A>G
  • NM_001407725.1:c.1786A>G
  • NM_001407726.1:c.1786A>G
  • NM_001407727.1:c.1786A>G
  • NM_001407728.1:c.1786A>G
  • NM_001407729.1:c.1786A>G
  • NM_001407730.1:c.1786A>G
  • NM_001407731.1:c.1786A>G
  • NM_001407732.1:c.1786A>G
  • NM_001407733.1:c.1786A>G
  • NM_001407734.1:c.1786A>G
  • NM_001407735.1:c.1786A>G
  • NM_001407736.1:c.1786A>G
  • NM_001407737.1:c.1786A>G
  • NM_001407738.1:c.1786A>G
  • NM_001407739.1:c.1786A>G
  • NM_001407740.1:c.1783A>G
  • NM_001407741.1:c.1783A>G
  • NM_001407742.1:c.1783A>G
  • NM_001407743.1:c.1783A>G
  • NM_001407744.1:c.1783A>G
  • NM_001407745.1:c.1783A>G
  • NM_001407746.1:c.1783A>G
  • NM_001407747.1:c.1783A>G
  • NM_001407748.1:c.1783A>G
  • NM_001407749.1:c.1783A>G
  • NM_001407750.1:c.1786A>G
  • NM_001407751.1:c.1786A>G
  • NM_001407752.1:c.1786A>G
  • NM_001407838.1:c.1783A>G
  • NM_001407839.1:c.1783A>G
  • NM_001407841.1:c.1783A>G
  • NM_001407842.1:c.1783A>G
  • NM_001407843.1:c.1783A>G
  • NM_001407844.1:c.1783A>G
  • NM_001407845.1:c.1783A>G
  • NM_001407846.1:c.1783A>G
  • NM_001407847.1:c.1783A>G
  • NM_001407848.1:c.1783A>G
  • NM_001407849.1:c.1783A>G
  • NM_001407850.1:c.1786A>G
  • NM_001407851.1:c.1786A>G
  • NM_001407852.1:c.1786A>G
  • NM_001407853.1:c.1714A>G
  • NM_001407854.1:c.1927A>G
  • NM_001407858.1:c.1927A>G
  • NM_001407859.1:c.1927A>G
  • NM_001407860.1:c.1924A>G
  • NM_001407861.1:c.1924A>G
  • NM_001407862.1:c.1726A>G
  • NM_001407863.1:c.1804A>G
  • NM_001407874.1:c.1723A>G
  • NM_001407875.1:c.1723A>G
  • NM_001407879.1:c.1717A>G
  • NM_001407881.1:c.1717A>G
  • NM_001407882.1:c.1717A>G
  • NM_001407884.1:c.1717A>G
  • NM_001407885.1:c.1717A>G
  • NM_001407886.1:c.1717A>G
  • NM_001407887.1:c.1717A>G
  • NM_001407889.1:c.1717A>G
  • NM_001407894.1:c.1714A>G
  • NM_001407895.1:c.1714A>G
  • NM_001407896.1:c.1714A>G
  • NM_001407897.1:c.1714A>G
  • NM_001407898.1:c.1714A>G
  • NM_001407899.1:c.1714A>G
  • NM_001407900.1:c.1717A>G
  • NM_001407902.1:c.1717A>G
  • NM_001407904.1:c.1717A>G
  • NM_001407906.1:c.1717A>G
  • NM_001407907.1:c.1717A>G
  • NM_001407908.1:c.1717A>G
  • NM_001407909.1:c.1717A>G
  • NM_001407910.1:c.1717A>G
  • NM_001407915.1:c.1714A>G
  • NM_001407916.1:c.1714A>G
  • NM_001407917.1:c.1714A>G
  • NM_001407918.1:c.1714A>G
  • NM_001407919.1:c.1804A>G
  • NM_001407920.1:c.1663A>G
  • NM_001407921.1:c.1663A>G
  • NM_001407922.1:c.1663A>G
  • NM_001407923.1:c.1663A>G
  • NM_001407924.1:c.1663A>G
  • NM_001407925.1:c.1663A>G
  • NM_001407926.1:c.1663A>G
  • NM_001407927.1:c.1663A>G
  • NM_001407928.1:c.1663A>G
  • NM_001407929.1:c.1663A>G
  • NM_001407930.1:c.1660A>G
  • NM_001407931.1:c.1660A>G
  • NM_001407932.1:c.1660A>G
  • NM_001407933.1:c.1663A>G
  • NM_001407934.1:c.1660A>G
  • NM_001407935.1:c.1663A>G
  • NM_001407936.1:c.1660A>G
  • NM_001407937.1:c.1804A>G
  • NM_001407938.1:c.1804A>G
  • NM_001407939.1:c.1804A>G
  • NM_001407940.1:c.1801A>G
  • NM_001407941.1:c.1801A>G
  • NM_001407942.1:c.1786A>G
  • NM_001407943.1:c.1783A>G
  • NM_001407944.1:c.1786A>G
  • NM_001407945.1:c.1786A>G
  • NM_001407946.1:c.1594A>G
  • NM_001407947.1:c.1594A>G
  • NM_001407948.1:c.1594A>G
  • NM_001407949.1:c.1594A>G
  • NM_001407950.1:c.1594A>G
  • NM_001407951.1:c.1594A>G
  • NM_001407952.1:c.1594A>G
  • NM_001407953.1:c.1594A>G
  • NM_001407954.1:c.1591A>G
  • NM_001407955.1:c.1591A>G
  • NM_001407956.1:c.1591A>G
  • NM_001407957.1:c.1594A>G
  • NM_001407958.1:c.1591A>G
  • NM_001407959.1:c.1546A>G
  • NM_001407960.1:c.1546A>G
  • NM_001407962.1:c.1543A>G
  • NM_001407963.1:c.1546A>G
  • NM_001407964.1:c.1783A>G
  • NM_001407965.1:c.1423A>G
  • NM_001407966.1:c.1039A>G
  • NM_001407967.1:c.1039A>G
  • NM_001407968.1:c.787+1140A>G
  • NM_001407969.1:c.787+1140A>G
  • NM_001407970.1:c.787+1140A>G
  • NM_001407971.1:c.787+1140A>G
  • NM_001407972.1:c.784+1140A>G
  • NM_001407973.1:c.787+1140A>G
  • NM_001407974.1:c.787+1140A>G
  • NM_001407975.1:c.787+1140A>G
  • NM_001407976.1:c.787+1140A>G
  • NM_001407977.1:c.787+1140A>G
  • NM_001407978.1:c.787+1140A>G
  • NM_001407979.1:c.787+1140A>G
  • NM_001407980.1:c.787+1140A>G
  • NM_001407981.1:c.787+1140A>G
  • NM_001407982.1:c.787+1140A>G
  • NM_001407983.1:c.787+1140A>G
  • NM_001407984.1:c.784+1140A>G
  • NM_001407985.1:c.784+1140A>G
  • NM_001407986.1:c.784+1140A>G
  • NM_001407990.1:c.787+1140A>G
  • NM_001407991.1:c.784+1140A>G
  • NM_001407992.1:c.784+1140A>G
  • NM_001407993.1:c.787+1140A>G
  • NM_001408392.1:c.784+1140A>G
  • NM_001408396.1:c.784+1140A>G
  • NM_001408397.1:c.784+1140A>G
  • NM_001408398.1:c.784+1140A>G
  • NM_001408399.1:c.784+1140A>G
  • NM_001408400.1:c.784+1140A>G
  • NM_001408401.1:c.784+1140A>G
  • NM_001408402.1:c.784+1140A>G
  • NM_001408403.1:c.787+1140A>G
  • NM_001408404.1:c.787+1140A>G
  • NM_001408406.1:c.790+1137A>G
  • NM_001408407.1:c.784+1140A>G
  • NM_001408408.1:c.778+1140A>G
  • NM_001408409.1:c.709+1140A>G
  • NM_001408410.1:c.646+1140A>G
  • NM_001408411.1:c.709+1140A>G
  • NM_001408412.1:c.709+1140A>G
  • NM_001408413.1:c.706+1140A>G
  • NM_001408414.1:c.709+1140A>G
  • NM_001408415.1:c.709+1140A>G
  • NM_001408416.1:c.706+1140A>G
  • NM_001408418.1:c.670+2242A>G
  • NM_001408419.1:c.670+2242A>G
  • NM_001408420.1:c.670+2242A>G
  • NM_001408421.1:c.667+2242A>G
  • NM_001408422.1:c.670+2242A>G
  • NM_001408423.1:c.670+2242A>G
  • NM_001408424.1:c.667+2242A>G
  • NM_001408425.1:c.664+1140A>G
  • NM_001408426.1:c.664+1140A>G
  • NM_001408427.1:c.664+1140A>G
  • NM_001408428.1:c.664+1140A>G
  • NM_001408429.1:c.664+1140A>G
  • NM_001408430.1:c.664+1140A>G
  • NM_001408431.1:c.667+2242A>G
  • NM_001408432.1:c.661+1140A>G
  • NM_001408433.1:c.661+1140A>G
  • NM_001408434.1:c.661+1140A>G
  • NM_001408435.1:c.661+1140A>G
  • NM_001408436.1:c.664+1140A>G
  • NM_001408437.1:c.664+1140A>G
  • NM_001408438.1:c.664+1140A>G
  • NM_001408439.1:c.664+1140A>G
  • NM_001408440.1:c.664+1140A>G
  • NM_001408441.1:c.664+1140A>G
  • NM_001408442.1:c.664+1140A>G
  • NM_001408443.1:c.664+1140A>G
  • NM_001408444.1:c.664+1140A>G
  • NM_001408445.1:c.661+1140A>G
  • NM_001408446.1:c.661+1140A>G
  • NM_001408447.1:c.661+1140A>G
  • NM_001408448.1:c.661+1140A>G
  • NM_001408450.1:c.661+1140A>G
  • NM_001408451.1:c.652+1140A>G
  • NM_001408452.1:c.646+1140A>G
  • NM_001408453.1:c.646+1140A>G
  • NM_001408454.1:c.646+1140A>G
  • NM_001408455.1:c.646+1140A>G
  • NM_001408456.1:c.646+1140A>G
  • NM_001408457.1:c.646+1140A>G
  • NM_001408458.1:c.646+1140A>G
  • NM_001408459.1:c.646+1140A>G
  • NM_001408460.1:c.646+1140A>G
  • NM_001408461.1:c.646+1140A>G
  • NM_001408462.1:c.643+1140A>G
  • NM_001408463.1:c.643+1140A>G
  • NM_001408464.1:c.643+1140A>G
  • NM_001408465.1:c.643+1140A>G
  • NM_001408466.1:c.646+1140A>G
  • NM_001408467.1:c.646+1140A>G
  • NM_001408468.1:c.643+1140A>G
  • NM_001408469.1:c.646+1140A>G
  • NM_001408470.1:c.643+1140A>G
  • NM_001408472.1:c.787+1140A>G
  • NM_001408473.1:c.784+1140A>G
  • NM_001408474.1:c.586+1140A>G
  • NM_001408475.1:c.583+1140A>G
  • NM_001408476.1:c.586+1140A>G
  • NM_001408478.1:c.577+1140A>G
  • NM_001408479.1:c.577+1140A>G
  • NM_001408480.1:c.577+1140A>G
  • NM_001408481.1:c.577+1140A>G
  • NM_001408482.1:c.577+1140A>G
  • NM_001408483.1:c.577+1140A>G
  • NM_001408484.1:c.577+1140A>G
  • NM_001408485.1:c.577+1140A>G
  • NM_001408489.1:c.577+1140A>G
  • NM_001408490.1:c.574+1140A>G
  • NM_001408491.1:c.574+1140A>G
  • NM_001408492.1:c.577+1140A>G
  • NM_001408493.1:c.574+1140A>G
  • NM_001408494.1:c.548-2572A>G
  • NM_001408495.1:c.545-2572A>G
  • NM_001408496.1:c.523+1140A>G
  • NM_001408497.1:c.523+1140A>G
  • NM_001408498.1:c.523+1140A>G
  • NM_001408499.1:c.523+1140A>G
  • NM_001408500.1:c.523+1140A>G
  • NM_001408501.1:c.523+1140A>G
  • NM_001408502.1:c.454+1140A>G
  • NM_001408503.1:c.520+1140A>G
  • NM_001408504.1:c.520+1140A>G
  • NM_001408505.1:c.520+1140A>G
  • NM_001408506.1:c.460+2242A>G
  • NM_001408507.1:c.460+2242A>G
  • NM_001408508.1:c.451+1140A>G
  • NM_001408509.1:c.451+1140A>G
  • NM_001408510.1:c.406+1140A>G
  • NM_001408511.1:c.404-2572A>G
  • NM_001408512.1:c.283+1140A>G
  • NM_001408513.1:c.577+1140A>G
  • NM_001408514.1:c.577+1140A>G
  • NM_007294.4:c.1927A>GMANE SELECT
  • NM_007297.4:c.1786A>G
  • NM_007298.4:c.787+1140A>G
  • NM_007299.4:c.787+1140A>G
  • NM_007300.4:c.1927A>G
  • NP_001394500.1:p.Ser572Gly
  • NP_001394510.1:p.Ser643Gly
  • NP_001394511.1:p.Ser643Gly
  • NP_001394512.1:p.Ser643Gly
  • NP_001394514.1:p.Ser643Gly
  • NP_001394516.1:p.Ser642Gly
  • NP_001394519.1:p.Ser642Gly
  • NP_001394520.1:p.Ser642Gly
  • NP_001394522.1:p.Ser643Gly
  • NP_001394523.1:p.Ser643Gly
  • NP_001394525.1:p.Ser643Gly
  • NP_001394526.1:p.Ser643Gly
  • NP_001394527.1:p.Ser643Gly
  • NP_001394531.1:p.Ser643Gly
  • NP_001394532.1:p.Ser643Gly
  • NP_001394534.1:p.Ser643Gly
  • NP_001394539.1:p.Ser642Gly
  • NP_001394540.1:p.Ser642Gly
  • NP_001394541.1:p.Ser642Gly
  • NP_001394542.1:p.Ser642Gly
  • NP_001394543.1:p.Ser642Gly
  • NP_001394544.1:p.Ser642Gly
  • NP_001394545.1:p.Ser643Gly
  • NP_001394546.1:p.Ser643Gly
  • NP_001394547.1:p.Ser643Gly
  • NP_001394548.1:p.Ser643Gly
  • NP_001394549.1:p.Ser643Gly
  • NP_001394550.1:p.Ser643Gly
  • NP_001394551.1:p.Ser643Gly
  • NP_001394552.1:p.Ser643Gly
  • NP_001394553.1:p.Ser643Gly
  • NP_001394554.1:p.Ser643Gly
  • NP_001394555.1:p.Ser643Gly
  • NP_001394556.1:p.Ser642Gly
  • NP_001394557.1:p.Ser642Gly
  • NP_001394558.1:p.Ser642Gly
  • NP_001394559.1:p.Ser642Gly
  • NP_001394560.1:p.Ser642Gly
  • NP_001394561.1:p.Ser642Gly
  • NP_001394562.1:p.Ser642Gly
  • NP_001394563.1:p.Ser642Gly
  • NP_001394564.1:p.Ser642Gly
  • NP_001394565.1:p.Ser642Gly
  • NP_001394566.1:p.Ser642Gly
  • NP_001394567.1:p.Ser642Gly
  • NP_001394568.1:p.Ser643Gly
  • NP_001394569.1:p.Ser643Gly
  • NP_001394570.1:p.Ser643Gly
  • NP_001394571.1:p.Ser643Gly
  • NP_001394573.1:p.Ser642Gly
  • NP_001394574.1:p.Ser642Gly
  • NP_001394575.1:p.Ser640Gly
  • NP_001394576.1:p.Ser640Gly
  • NP_001394577.1:p.Ser602Gly
  • NP_001394578.1:p.Ser601Gly
  • NP_001394581.1:p.Ser643Gly
  • NP_001394582.1:p.Ser617Gly
  • NP_001394583.1:p.Ser617Gly
  • NP_001394584.1:p.Ser617Gly
  • NP_001394585.1:p.Ser617Gly
  • NP_001394586.1:p.Ser617Gly
  • NP_001394587.1:p.Ser617Gly
  • NP_001394588.1:p.Ser616Gly
  • NP_001394589.1:p.Ser616Gly
  • NP_001394590.1:p.Ser616Gly
  • NP_001394591.1:p.Ser616Gly
  • NP_001394592.1:p.Ser617Gly
  • NP_001394593.1:p.Ser602Gly
  • NP_001394594.1:p.Ser602Gly
  • NP_001394595.1:p.Ser602Gly
  • NP_001394596.1:p.Ser602Gly
  • NP_001394597.1:p.Ser602Gly
  • NP_001394598.1:p.Ser602Gly
  • NP_001394599.1:p.Ser601Gly
  • NP_001394600.1:p.Ser601Gly
  • NP_001394601.1:p.Ser601Gly
  • NP_001394602.1:p.Ser601Gly
  • NP_001394603.1:p.Ser602Gly
  • NP_001394604.1:p.Ser602Gly
  • NP_001394605.1:p.Ser602Gly
  • NP_001394606.1:p.Ser602Gly
  • NP_001394607.1:p.Ser602Gly
  • NP_001394608.1:p.Ser602Gly
  • NP_001394609.1:p.Ser602Gly
  • NP_001394610.1:p.Ser602Gly
  • NP_001394611.1:p.Ser602Gly
  • NP_001394612.1:p.Ser602Gly
  • NP_001394613.1:p.Ser643Gly
  • NP_001394614.1:p.Ser601Gly
  • NP_001394615.1:p.Ser601Gly
  • NP_001394616.1:p.Ser601Gly
  • NP_001394617.1:p.Ser601Gly
  • NP_001394618.1:p.Ser601Gly
  • NP_001394619.1:p.Ser601Gly
  • NP_001394620.1:p.Ser601Gly
  • NP_001394621.1:p.Ser596Gly
  • NP_001394623.1:p.Ser596Gly
  • NP_001394624.1:p.Ser596Gly
  • NP_001394625.1:p.Ser596Gly
  • NP_001394626.1:p.Ser596Gly
  • NP_001394627.1:p.Ser596Gly
  • NP_001394653.1:p.Ser596Gly
  • NP_001394654.1:p.Ser596Gly
  • NP_001394655.1:p.Ser596Gly
  • NP_001394656.1:p.Ser596Gly
  • NP_001394657.1:p.Ser596Gly
  • NP_001394658.1:p.Ser596Gly
  • NP_001394659.1:p.Ser596Gly
  • NP_001394660.1:p.Ser596Gly
  • NP_001394661.1:p.Ser596Gly
  • NP_001394662.1:p.Ser596Gly
  • NP_001394663.1:p.Ser596Gly
  • NP_001394664.1:p.Ser596Gly
  • NP_001394665.1:p.Ser596Gly
  • NP_001394666.1:p.Ser596Gly
  • NP_001394667.1:p.Ser596Gly
  • NP_001394668.1:p.Ser596Gly
  • NP_001394669.1:p.Ser595Gly
  • NP_001394670.1:p.Ser595Gly
  • NP_001394671.1:p.Ser595Gly
  • NP_001394672.1:p.Ser595Gly
  • NP_001394673.1:p.Ser595Gly
  • NP_001394674.1:p.Ser595Gly
  • NP_001394675.1:p.Ser595Gly
  • NP_001394676.1:p.Ser595Gly
  • NP_001394677.1:p.Ser595Gly
  • NP_001394678.1:p.Ser595Gly
  • NP_001394679.1:p.Ser596Gly
  • NP_001394680.1:p.Ser596Gly
  • NP_001394681.1:p.Ser596Gly
  • NP_001394767.1:p.Ser595Gly
  • NP_001394768.1:p.Ser595Gly
  • NP_001394770.1:p.Ser595Gly
  • NP_001394771.1:p.Ser595Gly
  • NP_001394772.1:p.Ser595Gly
  • NP_001394773.1:p.Ser595Gly
  • NP_001394774.1:p.Ser595Gly
  • NP_001394775.1:p.Ser595Gly
  • NP_001394776.1:p.Ser595Gly
  • NP_001394777.1:p.Ser595Gly
  • NP_001394778.1:p.Ser595Gly
  • NP_001394779.1:p.Ser596Gly
  • NP_001394780.1:p.Ser596Gly
  • NP_001394781.1:p.Ser596Gly
  • NP_001394782.1:p.Ser572Gly
  • NP_001394783.1:p.Ser643Gly
  • NP_001394787.1:p.Ser643Gly
  • NP_001394788.1:p.Ser643Gly
  • NP_001394789.1:p.Ser642Gly
  • NP_001394790.1:p.Ser642Gly
  • NP_001394791.1:p.Ser576Gly
  • NP_001394792.1:p.Ser602Gly
  • NP_001394803.1:p.Ser575Gly
  • NP_001394804.1:p.Ser575Gly
  • NP_001394808.1:p.Ser573Gly
  • NP_001394810.1:p.Ser573Gly
  • NP_001394811.1:p.Ser573Gly
  • NP_001394813.1:p.Ser573Gly
  • NP_001394814.1:p.Ser573Gly
  • NP_001394815.1:p.Ser573Gly
  • NP_001394816.1:p.Ser573Gly
  • NP_001394818.1:p.Ser573Gly
  • NP_001394823.1:p.Ser572Gly
  • NP_001394824.1:p.Ser572Gly
  • NP_001394825.1:p.Ser572Gly
  • NP_001394826.1:p.Ser572Gly
  • NP_001394827.1:p.Ser572Gly
  • NP_001394828.1:p.Ser572Gly
  • NP_001394829.1:p.Ser573Gly
  • NP_001394831.1:p.Ser573Gly
  • NP_001394833.1:p.Ser573Gly
  • NP_001394835.1:p.Ser573Gly
  • NP_001394836.1:p.Ser573Gly
  • NP_001394837.1:p.Ser573Gly
  • NP_001394838.1:p.Ser573Gly
  • NP_001394839.1:p.Ser573Gly
  • NP_001394844.1:p.Ser572Gly
  • NP_001394845.1:p.Ser572Gly
  • NP_001394846.1:p.Ser572Gly
  • NP_001394847.1:p.Ser572Gly
  • NP_001394848.1:p.Ser602Gly
  • NP_001394849.1:p.Ser555Gly
  • NP_001394850.1:p.Ser555Gly
  • NP_001394851.1:p.Ser555Gly
  • NP_001394852.1:p.Ser555Gly
  • NP_001394853.1:p.Ser555Gly
  • NP_001394854.1:p.Ser555Gly
  • NP_001394855.1:p.Ser555Gly
  • NP_001394856.1:p.Ser555Gly
  • NP_001394857.1:p.Ser555Gly
  • NP_001394858.1:p.Ser555Gly
  • NP_001394859.1:p.Ser554Gly
  • NP_001394860.1:p.Ser554Gly
  • NP_001394861.1:p.Ser554Gly
  • NP_001394862.1:p.Ser555Gly
  • NP_001394863.1:p.Ser554Gly
  • NP_001394864.1:p.Ser555Gly
  • NP_001394865.1:p.Ser554Gly
  • NP_001394866.1:p.Ser602Gly
  • NP_001394867.1:p.Ser602Gly
  • NP_001394868.1:p.Ser602Gly
  • NP_001394869.1:p.Ser601Gly
  • NP_001394870.1:p.Ser601Gly
  • NP_001394871.1:p.Ser596Gly
  • NP_001394872.1:p.Ser595Gly
  • NP_001394873.1:p.Ser596Gly
  • NP_001394874.1:p.Ser596Gly
  • NP_001394875.1:p.Ser532Gly
  • NP_001394876.1:p.Ser532Gly
  • NP_001394877.1:p.Ser532Gly
  • NP_001394878.1:p.Ser532Gly
  • NP_001394879.1:p.Ser532Gly
  • NP_001394880.1:p.Ser532Gly
  • NP_001394881.1:p.Ser532Gly
  • NP_001394882.1:p.Ser532Gly
  • NP_001394883.1:p.Ser531Gly
  • NP_001394884.1:p.Ser531Gly
  • NP_001394885.1:p.Ser531Gly
  • NP_001394886.1:p.Ser532Gly
  • NP_001394887.1:p.Ser531Gly
  • NP_001394888.1:p.Ser516Gly
  • NP_001394889.1:p.Ser516Gly
  • NP_001394891.1:p.Ser515Gly
  • NP_001394892.1:p.Ser516Gly
  • NP_001394893.1:p.Ser595Gly
  • NP_001394894.1:p.Ser475Gly
  • NP_001394895.1:p.Ser347Gly
  • NP_001394896.1:p.Ser347Gly
  • NP_009225.1:p.Ser643Gly
  • NP_009225.1:p.Ser643Gly
  • NP_009228.2:p.Ser596Gly
  • NP_009231.2:p.Ser643Gly
  • LRG_292t1:c.1927A>G
  • LRG_292:g.124380A>G
  • LRG_292p1:p.Ser643Gly
  • NC_000017.10:g.41245621T>C
  • NM_007294.3:c.1927A>G
  • NR_027676.1:n.2063A>G
  • U14680.1:n.2046A>G
Nucleotide change:
2046A>G
Protein change:
S347G
Links:
dbSNP: rs80357105
NCBI 1000 Genomes Browser:
rs80357105
Molecular consequence:
  • NM_001407968.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1137A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2572A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2572A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+2242A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2572A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1140A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.1918A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.1918A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1849A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1849A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1849A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1849A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1849A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1849A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1846A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1846A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1846A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1846A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1849A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1726A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1723A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1723A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1660A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1660A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1660A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1660A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1660A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1591A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1591A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1591A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1591A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1543A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1423A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.1039A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.1039A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000909358Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 4, 2019) 		germlineclinical testing

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

SCV002719843Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 9, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

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

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.

Dominguez-Valentin M, Evans DGR, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E.

Hered Cancer Clin Pract. 2018;16:4. doi: 10.1186/s13053-018-0086-0.

PubMed [citation]
PMID:
29371908
PMCID:
PMC5769521
See all PubMed Citations (4)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000909358.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Ambry Genetics, SCV002719843.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.S643G variant (also known as c.1927A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 1927. The serine at codon 643 is replaced by glycine, an amino acid with similar properties. In a study of 160 women with a family history of breast and/or ovarian cancer, this variant was reported in one family with a history of breast cancer (Stoppa-Lyonnet D et al. Am. J. Hum. Genet. 1997 May;60:1021-30). This variant has also been reported in a female with breast cancer at age 66, who tested negative for a known familial pathogenic BRCA1 mutation (Dominguez-Valentin M et al. Hered Cancer Clin Pract. 2018 Jan;16:4). This alteration was also classsified as benign in a multifactorial model of variant interpretation that incorporates co-segregation, family history, co-occurrence and tumor pathology and case-control data (Parsons MT et al. Hum Mutat. 2019 09;40(9):1557-1578). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 13, 2024