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NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) AND not provided

Germline classification:
Benign (3 submissions)
Last evaluated:
Sep 19, 2023
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:
RCV000656638.25

Allele description [Variation Report for NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)]

NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)

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.1971A>G (p.Gln657=)
Other names:
2090A/G; p.Q657Q:CAA>CAG; 2090 A>G; NP_009225.1:p.Gln657=
HGVS:
  • NC_000017.11:g.43093560T>C
  • NG_005905.2:g.124424A>G
  • NM_001407571.1:c.1758A>G
  • NM_001407581.1:c.1971A>G
  • NM_001407582.1:c.1971A>G
  • NM_001407583.1:c.1971A>G
  • NM_001407585.1:c.1971A>G
  • NM_001407587.1:c.1968A>G
  • NM_001407590.1:c.1968A>G
  • NM_001407591.1:c.1968A>G
  • NM_001407593.1:c.1971A>G
  • NM_001407594.1:c.1971A>G
  • NM_001407596.1:c.1971A>G
  • NM_001407597.1:c.1971A>G
  • NM_001407598.1:c.1971A>G
  • NM_001407602.1:c.1971A>G
  • NM_001407603.1:c.1971A>G
  • NM_001407605.1:c.1971A>G
  • NM_001407610.1:c.1968A>G
  • NM_001407611.1:c.1968A>G
  • NM_001407612.1:c.1968A>G
  • NM_001407613.1:c.1968A>G
  • NM_001407614.1:c.1968A>G
  • NM_001407615.1:c.1968A>G
  • NM_001407616.1:c.1971A>G
  • NM_001407617.1:c.1971A>G
  • NM_001407618.1:c.1971A>G
  • NM_001407619.1:c.1971A>G
  • NM_001407620.1:c.1971A>G
  • NM_001407621.1:c.1971A>G
  • NM_001407622.1:c.1971A>G
  • NM_001407623.1:c.1971A>G
  • NM_001407624.1:c.1971A>G
  • NM_001407625.1:c.1971A>G
  • NM_001407626.1:c.1971A>G
  • NM_001407627.1:c.1968A>G
  • NM_001407628.1:c.1968A>G
  • NM_001407629.1:c.1968A>G
  • NM_001407630.1:c.1968A>G
  • NM_001407631.1:c.1968A>G
  • NM_001407632.1:c.1968A>G
  • NM_001407633.1:c.1968A>G
  • NM_001407634.1:c.1968A>G
  • NM_001407635.1:c.1968A>G
  • NM_001407636.1:c.1968A>G
  • NM_001407637.1:c.1968A>G
  • NM_001407638.1:c.1968A>G
  • NM_001407639.1:c.1971A>G
  • NM_001407640.1:c.1971A>G
  • NM_001407641.1:c.1971A>G
  • NM_001407642.1:c.1971A>G
  • NM_001407644.1:c.1968A>G
  • NM_001407645.1:c.1968A>G
  • NM_001407646.1:c.1962A>G
  • NM_001407647.1:c.1962A>G
  • NM_001407648.1:c.1848A>G
  • NM_001407649.1:c.1845A>G
  • NM_001407652.1:c.1971A>G
  • NM_001407653.1:c.1893A>G
  • NM_001407654.1:c.1893A>G
  • NM_001407655.1:c.1893A>G
  • NM_001407656.1:c.1893A>G
  • NM_001407657.1:c.1893A>G
  • NM_001407658.1:c.1893A>G
  • NM_001407659.1:c.1890A>G
  • NM_001407660.1:c.1890A>G
  • NM_001407661.1:c.1890A>G
  • NM_001407662.1:c.1890A>G
  • NM_001407663.1:c.1893A>G
  • NM_001407664.1:c.1848A>G
  • NM_001407665.1:c.1848A>G
  • NM_001407666.1:c.1848A>G
  • NM_001407667.1:c.1848A>G
  • NM_001407668.1:c.1848A>G
  • NM_001407669.1:c.1848A>G
  • NM_001407670.1:c.1845A>G
  • NM_001407671.1:c.1845A>G
  • NM_001407672.1:c.1845A>G
  • NM_001407673.1:c.1845A>G
  • NM_001407674.1:c.1848A>G
  • NM_001407675.1:c.1848A>G
  • NM_001407676.1:c.1848A>G
  • NM_001407677.1:c.1848A>G
  • NM_001407678.1:c.1848A>G
  • NM_001407679.1:c.1848A>G
  • NM_001407680.1:c.1848A>G
  • NM_001407681.1:c.1848A>G
  • NM_001407682.1:c.1848A>G
  • NM_001407683.1:c.1848A>G
  • NM_001407684.1:c.1971A>G
  • NM_001407685.1:c.1845A>G
  • NM_001407686.1:c.1845A>G
  • NM_001407687.1:c.1845A>G
  • NM_001407688.1:c.1845A>G
  • NM_001407689.1:c.1845A>G
  • NM_001407690.1:c.1845A>G
  • NM_001407691.1:c.1845A>G
  • NM_001407692.1:c.1830A>G
  • NM_001407694.1:c.1830A>G
  • NM_001407695.1:c.1830A>G
  • NM_001407696.1:c.1830A>G
  • NM_001407697.1:c.1830A>G
  • NM_001407698.1:c.1830A>G
  • NM_001407724.1:c.1830A>G
  • NM_001407725.1:c.1830A>G
  • NM_001407726.1:c.1830A>G
  • NM_001407727.1:c.1830A>G
  • NM_001407728.1:c.1830A>G
  • NM_001407729.1:c.1830A>G
  • NM_001407730.1:c.1830A>G
  • NM_001407731.1:c.1830A>G
  • NM_001407732.1:c.1830A>G
  • NM_001407733.1:c.1830A>G
  • NM_001407734.1:c.1830A>G
  • NM_001407735.1:c.1830A>G
  • NM_001407736.1:c.1830A>G
  • NM_001407737.1:c.1830A>G
  • NM_001407738.1:c.1830A>G
  • NM_001407739.1:c.1830A>G
  • NM_001407740.1:c.1827A>G
  • NM_001407741.1:c.1827A>G
  • NM_001407742.1:c.1827A>G
  • NM_001407743.1:c.1827A>G
  • NM_001407744.1:c.1827A>G
  • NM_001407745.1:c.1827A>G
  • NM_001407746.1:c.1827A>G
  • NM_001407747.1:c.1827A>G
  • NM_001407748.1:c.1827A>G
  • NM_001407749.1:c.1827A>G
  • NM_001407750.1:c.1830A>G
  • NM_001407751.1:c.1830A>G
  • NM_001407752.1:c.1830A>G
  • NM_001407838.1:c.1827A>G
  • NM_001407839.1:c.1827A>G
  • NM_001407841.1:c.1827A>G
  • NM_001407842.1:c.1827A>G
  • NM_001407843.1:c.1827A>G
  • NM_001407844.1:c.1827A>G
  • NM_001407845.1:c.1827A>G
  • NM_001407846.1:c.1827A>G
  • NM_001407847.1:c.1827A>G
  • NM_001407848.1:c.1827A>G
  • NM_001407849.1:c.1827A>G
  • NM_001407850.1:c.1830A>G
  • NM_001407851.1:c.1830A>G
  • NM_001407852.1:c.1830A>G
  • NM_001407853.1:c.1758A>G
  • NM_001407854.1:c.1971A>G
  • NM_001407858.1:c.1971A>G
  • NM_001407859.1:c.1971A>G
  • NM_001407860.1:c.1968A>G
  • NM_001407861.1:c.1968A>G
  • NM_001407862.1:c.1770A>G
  • NM_001407863.1:c.1848A>G
  • NM_001407874.1:c.1767A>G
  • NM_001407875.1:c.1767A>G
  • NM_001407879.1:c.1761A>G
  • NM_001407881.1:c.1761A>G
  • NM_001407882.1:c.1761A>G
  • NM_001407884.1:c.1761A>G
  • NM_001407885.1:c.1761A>G
  • NM_001407886.1:c.1761A>G
  • NM_001407887.1:c.1761A>G
  • NM_001407889.1:c.1761A>G
  • NM_001407894.1:c.1758A>G
  • NM_001407895.1:c.1758A>G
  • NM_001407896.1:c.1758A>G
  • NM_001407897.1:c.1758A>G
  • NM_001407898.1:c.1758A>G
  • NM_001407899.1:c.1758A>G
  • NM_001407900.1:c.1761A>G
  • NM_001407902.1:c.1761A>G
  • NM_001407904.1:c.1761A>G
  • NM_001407906.1:c.1761A>G
  • NM_001407907.1:c.1761A>G
  • NM_001407908.1:c.1761A>G
  • NM_001407909.1:c.1761A>G
  • NM_001407910.1:c.1761A>G
  • NM_001407915.1:c.1758A>G
  • NM_001407916.1:c.1758A>G
  • NM_001407917.1:c.1758A>G
  • NM_001407918.1:c.1758A>G
  • NM_001407919.1:c.1848A>G
  • NM_001407920.1:c.1707A>G
  • NM_001407921.1:c.1707A>G
  • NM_001407922.1:c.1707A>G
  • NM_001407923.1:c.1707A>G
  • NM_001407924.1:c.1707A>G
  • NM_001407925.1:c.1707A>G
  • NM_001407926.1:c.1707A>G
  • NM_001407927.1:c.1707A>G
  • NM_001407928.1:c.1707A>G
  • NM_001407929.1:c.1707A>G
  • NM_001407930.1:c.1704A>G
  • NM_001407931.1:c.1704A>G
  • NM_001407932.1:c.1704A>G
  • NM_001407933.1:c.1707A>G
  • NM_001407934.1:c.1704A>G
  • NM_001407935.1:c.1707A>G
  • NM_001407936.1:c.1704A>G
  • NM_001407937.1:c.1848A>G
  • NM_001407938.1:c.1848A>G
  • NM_001407939.1:c.1848A>G
  • NM_001407940.1:c.1845A>G
  • NM_001407941.1:c.1845A>G
  • NM_001407942.1:c.1830A>G
  • NM_001407943.1:c.1827A>G
  • NM_001407944.1:c.1830A>G
  • NM_001407945.1:c.1830A>G
  • NM_001407946.1:c.1638A>G
  • NM_001407947.1:c.1638A>G
  • NM_001407948.1:c.1638A>G
  • NM_001407949.1:c.1638A>G
  • NM_001407950.1:c.1638A>G
  • NM_001407951.1:c.1638A>G
  • NM_001407952.1:c.1638A>G
  • NM_001407953.1:c.1638A>G
  • NM_001407954.1:c.1635A>G
  • NM_001407955.1:c.1635A>G
  • NM_001407956.1:c.1635A>G
  • NM_001407957.1:c.1638A>G
  • NM_001407958.1:c.1635A>G
  • NM_001407959.1:c.1590A>G
  • NM_001407960.1:c.1590A>G
  • NM_001407962.1:c.1587A>G
  • NM_001407963.1:c.1590A>G
  • NM_001407964.1:c.1827A>G
  • NM_001407965.1:c.1467A>G
  • NM_001407966.1:c.1083A>G
  • NM_001407967.1:c.1083A>G
  • NM_001407968.1:c.787+1184A>G
  • NM_001407969.1:c.787+1184A>G
  • NM_001407970.1:c.787+1184A>G
  • NM_001407971.1:c.787+1184A>G
  • NM_001407972.1:c.784+1184A>G
  • NM_001407973.1:c.787+1184A>G
  • NM_001407974.1:c.787+1184A>G
  • NM_001407975.1:c.787+1184A>G
  • NM_001407976.1:c.787+1184A>G
  • NM_001407977.1:c.787+1184A>G
  • NM_001407978.1:c.787+1184A>G
  • NM_001407979.1:c.787+1184A>G
  • NM_001407980.1:c.787+1184A>G
  • NM_001407981.1:c.787+1184A>G
  • NM_001407982.1:c.787+1184A>G
  • NM_001407983.1:c.787+1184A>G
  • NM_001407984.1:c.784+1184A>G
  • NM_001407985.1:c.784+1184A>G
  • NM_001407986.1:c.784+1184A>G
  • NM_001407990.1:c.787+1184A>G
  • NM_001407991.1:c.784+1184A>G
  • NM_001407992.1:c.784+1184A>G
  • NM_001407993.1:c.787+1184A>G
  • NM_001408392.1:c.784+1184A>G
  • NM_001408396.1:c.784+1184A>G
  • NM_001408397.1:c.784+1184A>G
  • NM_001408398.1:c.784+1184A>G
  • NM_001408399.1:c.784+1184A>G
  • NM_001408400.1:c.784+1184A>G
  • NM_001408401.1:c.784+1184A>G
  • NM_001408402.1:c.784+1184A>G
  • NM_001408403.1:c.787+1184A>G
  • NM_001408404.1:c.787+1184A>G
  • NM_001408406.1:c.790+1181A>G
  • NM_001408407.1:c.784+1184A>G
  • NM_001408408.1:c.778+1184A>G
  • NM_001408409.1:c.709+1184A>G
  • NM_001408410.1:c.646+1184A>G
  • NM_001408411.1:c.709+1184A>G
  • NM_001408412.1:c.709+1184A>G
  • NM_001408413.1:c.706+1184A>G
  • NM_001408414.1:c.709+1184A>G
  • NM_001408415.1:c.709+1184A>G
  • NM_001408416.1:c.706+1184A>G
  • NM_001408418.1:c.670+2286A>G
  • NM_001408419.1:c.670+2286A>G
  • NM_001408420.1:c.670+2286A>G
  • NM_001408421.1:c.667+2286A>G
  • NM_001408422.1:c.670+2286A>G
  • NM_001408423.1:c.670+2286A>G
  • NM_001408424.1:c.667+2286A>G
  • NM_001408425.1:c.664+1184A>G
  • NM_001408426.1:c.664+1184A>G
  • NM_001408427.1:c.664+1184A>G
  • NM_001408428.1:c.664+1184A>G
  • NM_001408429.1:c.664+1184A>G
  • NM_001408430.1:c.664+1184A>G
  • NM_001408431.1:c.667+2286A>G
  • NM_001408432.1:c.661+1184A>G
  • NM_001408433.1:c.661+1184A>G
  • NM_001408434.1:c.661+1184A>G
  • NM_001408435.1:c.661+1184A>G
  • NM_001408436.1:c.664+1184A>G
  • NM_001408437.1:c.664+1184A>G
  • NM_001408438.1:c.664+1184A>G
  • NM_001408439.1:c.664+1184A>G
  • NM_001408440.1:c.664+1184A>G
  • NM_001408441.1:c.664+1184A>G
  • NM_001408442.1:c.664+1184A>G
  • NM_001408443.1:c.664+1184A>G
  • NM_001408444.1:c.664+1184A>G
  • NM_001408445.1:c.661+1184A>G
  • NM_001408446.1:c.661+1184A>G
  • NM_001408447.1:c.661+1184A>G
  • NM_001408448.1:c.661+1184A>G
  • NM_001408450.1:c.661+1184A>G
  • NM_001408451.1:c.652+1184A>G
  • NM_001408452.1:c.646+1184A>G
  • NM_001408453.1:c.646+1184A>G
  • NM_001408454.1:c.646+1184A>G
  • NM_001408455.1:c.646+1184A>G
  • NM_001408456.1:c.646+1184A>G
  • NM_001408457.1:c.646+1184A>G
  • NM_001408458.1:c.646+1184A>G
  • NM_001408459.1:c.646+1184A>G
  • NM_001408460.1:c.646+1184A>G
  • NM_001408461.1:c.646+1184A>G
  • NM_001408462.1:c.643+1184A>G
  • NM_001408463.1:c.643+1184A>G
  • NM_001408464.1:c.643+1184A>G
  • NM_001408465.1:c.643+1184A>G
  • NM_001408466.1:c.646+1184A>G
  • NM_001408467.1:c.646+1184A>G
  • NM_001408468.1:c.643+1184A>G
  • NM_001408469.1:c.646+1184A>G
  • NM_001408470.1:c.643+1184A>G
  • NM_001408472.1:c.787+1184A>G
  • NM_001408473.1:c.784+1184A>G
  • NM_001408474.1:c.586+1184A>G
  • NM_001408475.1:c.583+1184A>G
  • NM_001408476.1:c.586+1184A>G
  • NM_001408478.1:c.577+1184A>G
  • NM_001408479.1:c.577+1184A>G
  • NM_001408480.1:c.577+1184A>G
  • NM_001408481.1:c.577+1184A>G
  • NM_001408482.1:c.577+1184A>G
  • NM_001408483.1:c.577+1184A>G
  • NM_001408484.1:c.577+1184A>G
  • NM_001408485.1:c.577+1184A>G
  • NM_001408489.1:c.577+1184A>G
  • NM_001408490.1:c.574+1184A>G
  • NM_001408491.1:c.574+1184A>G
  • NM_001408492.1:c.577+1184A>G
  • NM_001408493.1:c.574+1184A>G
  • NM_001408494.1:c.548-2528A>G
  • NM_001408495.1:c.545-2528A>G
  • NM_001408496.1:c.523+1184A>G
  • NM_001408497.1:c.523+1184A>G
  • NM_001408498.1:c.523+1184A>G
  • NM_001408499.1:c.523+1184A>G
  • NM_001408500.1:c.523+1184A>G
  • NM_001408501.1:c.523+1184A>G
  • NM_001408502.1:c.454+1184A>G
  • NM_001408503.1:c.520+1184A>G
  • NM_001408504.1:c.520+1184A>G
  • NM_001408505.1:c.520+1184A>G
  • NM_001408506.1:c.460+2286A>G
  • NM_001408507.1:c.460+2286A>G
  • NM_001408508.1:c.451+1184A>G
  • NM_001408509.1:c.451+1184A>G
  • NM_001408510.1:c.406+1184A>G
  • NM_001408511.1:c.404-2528A>G
  • NM_001408512.1:c.283+1184A>G
  • NM_001408513.1:c.577+1184A>G
  • NM_001408514.1:c.577+1184A>G
  • NM_007294.4:c.1971A>GMANE SELECT
  • NM_007297.4:c.1830A>G
  • NM_007298.4:c.787+1184A>G
  • NM_007299.4:c.787+1184A>G
  • NM_007300.4:c.1971A>G
  • NP_001394500.1:p.Gln586=
  • NP_001394510.1:p.Gln657=
  • NP_001394511.1:p.Gln657=
  • NP_001394512.1:p.Gln657=
  • NP_001394514.1:p.Gln657=
  • NP_001394516.1:p.Gln656=
  • NP_001394519.1:p.Gln656=
  • NP_001394520.1:p.Gln656=
  • NP_001394522.1:p.Gln657=
  • NP_001394523.1:p.Gln657=
  • NP_001394525.1:p.Gln657=
  • NP_001394526.1:p.Gln657=
  • NP_001394527.1:p.Gln657=
  • NP_001394531.1:p.Gln657=
  • NP_001394532.1:p.Gln657=
  • NP_001394534.1:p.Gln657=
  • NP_001394539.1:p.Gln656=
  • NP_001394540.1:p.Gln656=
  • NP_001394541.1:p.Gln656=
  • NP_001394542.1:p.Gln656=
  • NP_001394543.1:p.Gln656=
  • NP_001394544.1:p.Gln656=
  • NP_001394545.1:p.Gln657=
  • NP_001394546.1:p.Gln657=
  • NP_001394547.1:p.Gln657=
  • NP_001394548.1:p.Gln657=
  • NP_001394549.1:p.Gln657=
  • NP_001394550.1:p.Gln657=
  • NP_001394551.1:p.Gln657=
  • NP_001394552.1:p.Gln657=
  • NP_001394553.1:p.Gln657=
  • NP_001394554.1:p.Gln657=
  • NP_001394555.1:p.Gln657=
  • NP_001394556.1:p.Gln656=
  • NP_001394557.1:p.Gln656=
  • NP_001394558.1:p.Gln656=
  • NP_001394559.1:p.Gln656=
  • NP_001394560.1:p.Gln656=
  • NP_001394561.1:p.Gln656=
  • NP_001394562.1:p.Gln656=
  • NP_001394563.1:p.Gln656=
  • NP_001394564.1:p.Gln656=
  • NP_001394565.1:p.Gln656=
  • NP_001394566.1:p.Gln656=
  • NP_001394567.1:p.Gln656=
  • NP_001394568.1:p.Gln657=
  • NP_001394569.1:p.Gln657=
  • NP_001394570.1:p.Gln657=
  • NP_001394571.1:p.Gln657=
  • NP_001394573.1:p.Gln656=
  • NP_001394574.1:p.Gln656=
  • NP_001394575.1:p.Gln654=
  • NP_001394576.1:p.Gln654=
  • NP_001394577.1:p.Gln616=
  • NP_001394578.1:p.Gln615=
  • NP_001394581.1:p.Gln657=
  • NP_001394582.1:p.Gln631=
  • NP_001394583.1:p.Gln631=
  • NP_001394584.1:p.Gln631=
  • NP_001394585.1:p.Gln631=
  • NP_001394586.1:p.Gln631=
  • NP_001394587.1:p.Gln631=
  • NP_001394588.1:p.Gln630=
  • NP_001394589.1:p.Gln630=
  • NP_001394590.1:p.Gln630=
  • NP_001394591.1:p.Gln630=
  • NP_001394592.1:p.Gln631=
  • NP_001394593.1:p.Gln616=
  • NP_001394594.1:p.Gln616=
  • NP_001394595.1:p.Gln616=
  • NP_001394596.1:p.Gln616=
  • NP_001394597.1:p.Gln616=
  • NP_001394598.1:p.Gln616=
  • NP_001394599.1:p.Gln615=
  • NP_001394600.1:p.Gln615=
  • NP_001394601.1:p.Gln615=
  • NP_001394602.1:p.Gln615=
  • NP_001394603.1:p.Gln616=
  • NP_001394604.1:p.Gln616=
  • NP_001394605.1:p.Gln616=
  • NP_001394606.1:p.Gln616=
  • NP_001394607.1:p.Gln616=
  • NP_001394608.1:p.Gln616=
  • NP_001394609.1:p.Gln616=
  • NP_001394610.1:p.Gln616=
  • NP_001394611.1:p.Gln616=
  • NP_001394612.1:p.Gln616=
  • NP_001394613.1:p.Gln657=
  • NP_001394614.1:p.Gln615=
  • NP_001394615.1:p.Gln615=
  • NP_001394616.1:p.Gln615=
  • NP_001394617.1:p.Gln615=
  • NP_001394618.1:p.Gln615=
  • NP_001394619.1:p.Gln615=
  • NP_001394620.1:p.Gln615=
  • NP_001394621.1:p.Gln610=
  • NP_001394623.1:p.Gln610=
  • NP_001394624.1:p.Gln610=
  • NP_001394625.1:p.Gln610=
  • NP_001394626.1:p.Gln610=
  • NP_001394627.1:p.Gln610=
  • NP_001394653.1:p.Gln610=
  • NP_001394654.1:p.Gln610=
  • NP_001394655.1:p.Gln610=
  • NP_001394656.1:p.Gln610=
  • NP_001394657.1:p.Gln610=
  • NP_001394658.1:p.Gln610=
  • NP_001394659.1:p.Gln610=
  • NP_001394660.1:p.Gln610=
  • NP_001394661.1:p.Gln610=
  • NP_001394662.1:p.Gln610=
  • NP_001394663.1:p.Gln610=
  • NP_001394664.1:p.Gln610=
  • NP_001394665.1:p.Gln610=
  • NP_001394666.1:p.Gln610=
  • NP_001394667.1:p.Gln610=
  • NP_001394668.1:p.Gln610=
  • NP_001394669.1:p.Gln609=
  • NP_001394670.1:p.Gln609=
  • NP_001394671.1:p.Gln609=
  • NP_001394672.1:p.Gln609=
  • NP_001394673.1:p.Gln609=
  • NP_001394674.1:p.Gln609=
  • NP_001394675.1:p.Gln609=
  • NP_001394676.1:p.Gln609=
  • NP_001394677.1:p.Gln609=
  • NP_001394678.1:p.Gln609=
  • NP_001394679.1:p.Gln610=
  • NP_001394680.1:p.Gln610=
  • NP_001394681.1:p.Gln610=
  • NP_001394767.1:p.Gln609=
  • NP_001394768.1:p.Gln609=
  • NP_001394770.1:p.Gln609=
  • NP_001394771.1:p.Gln609=
  • NP_001394772.1:p.Gln609=
  • NP_001394773.1:p.Gln609=
  • NP_001394774.1:p.Gln609=
  • NP_001394775.1:p.Gln609=
  • NP_001394776.1:p.Gln609=
  • NP_001394777.1:p.Gln609=
  • NP_001394778.1:p.Gln609=
  • NP_001394779.1:p.Gln610=
  • NP_001394780.1:p.Gln610=
  • NP_001394781.1:p.Gln610=
  • NP_001394782.1:p.Gln586=
  • NP_001394783.1:p.Gln657=
  • NP_001394787.1:p.Gln657=
  • NP_001394788.1:p.Gln657=
  • NP_001394789.1:p.Gln656=
  • NP_001394790.1:p.Gln656=
  • NP_001394791.1:p.Gln590=
  • NP_001394792.1:p.Gln616=
  • NP_001394803.1:p.Gln589=
  • NP_001394804.1:p.Gln589=
  • NP_001394808.1:p.Gln587=
  • NP_001394810.1:p.Gln587=
  • NP_001394811.1:p.Gln587=
  • NP_001394813.1:p.Gln587=
  • NP_001394814.1:p.Gln587=
  • NP_001394815.1:p.Gln587=
  • NP_001394816.1:p.Gln587=
  • NP_001394818.1:p.Gln587=
  • NP_001394823.1:p.Gln586=
  • NP_001394824.1:p.Gln586=
  • NP_001394825.1:p.Gln586=
  • NP_001394826.1:p.Gln586=
  • NP_001394827.1:p.Gln586=
  • NP_001394828.1:p.Gln586=
  • NP_001394829.1:p.Gln587=
  • NP_001394831.1:p.Gln587=
  • NP_001394833.1:p.Gln587=
  • NP_001394835.1:p.Gln587=
  • NP_001394836.1:p.Gln587=
  • NP_001394837.1:p.Gln587=
  • NP_001394838.1:p.Gln587=
  • NP_001394839.1:p.Gln587=
  • NP_001394844.1:p.Gln586=
  • NP_001394845.1:p.Gln586=
  • NP_001394846.1:p.Gln586=
  • NP_001394847.1:p.Gln586=
  • NP_001394848.1:p.Gln616=
  • NP_001394849.1:p.Gln569=
  • NP_001394850.1:p.Gln569=
  • NP_001394851.1:p.Gln569=
  • NP_001394852.1:p.Gln569=
  • NP_001394853.1:p.Gln569=
  • NP_001394854.1:p.Gln569=
  • NP_001394855.1:p.Gln569=
  • NP_001394856.1:p.Gln569=
  • NP_001394857.1:p.Gln569=
  • NP_001394858.1:p.Gln569=
  • NP_001394859.1:p.Gln568=
  • NP_001394860.1:p.Gln568=
  • NP_001394861.1:p.Gln568=
  • NP_001394862.1:p.Gln569=
  • NP_001394863.1:p.Gln568=
  • NP_001394864.1:p.Gln569=
  • NP_001394865.1:p.Gln568=
  • NP_001394866.1:p.Gln616=
  • NP_001394867.1:p.Gln616=
  • NP_001394868.1:p.Gln616=
  • NP_001394869.1:p.Gln615=
  • NP_001394870.1:p.Gln615=
  • NP_001394871.1:p.Gln610=
  • NP_001394872.1:p.Gln609=
  • NP_001394873.1:p.Gln610=
  • NP_001394874.1:p.Gln610=
  • NP_001394875.1:p.Gln546=
  • NP_001394876.1:p.Gln546=
  • NP_001394877.1:p.Gln546=
  • NP_001394878.1:p.Gln546=
  • NP_001394879.1:p.Gln546=
  • NP_001394880.1:p.Gln546=
  • NP_001394881.1:p.Gln546=
  • NP_001394882.1:p.Gln546=
  • NP_001394883.1:p.Gln545=
  • NP_001394884.1:p.Gln545=
  • NP_001394885.1:p.Gln545=
  • NP_001394886.1:p.Gln546=
  • NP_001394887.1:p.Gln545=
  • NP_001394888.1:p.Gln530=
  • NP_001394889.1:p.Gln530=
  • NP_001394891.1:p.Gln529=
  • NP_001394892.1:p.Gln530=
  • NP_001394893.1:p.Gln609=
  • NP_001394894.1:p.Gln489=
  • NP_001394895.1:p.Gln361=
  • NP_001394896.1:p.Gln361=
  • NP_009225.1:p.Gln657=
  • NP_009225.1:p.Gln657=
  • NP_009228.2:p.Gln610=
  • NP_009231.2:p.Gln657=
  • LRG_292t1:c.1971A>G
  • LRG_292:g.124424A>G
  • LRG_292p1:p.Gln657=
  • NC_000017.10:g.41245577T>C
  • NM_007294.2:c.1971A>G
  • NM_007294.3:c.1971A>G
  • NM_007294.4:c.1971A>G
  • NM_007299.3:c.787+1184A>G
  • NM_007300.3:c.1971A>G
  • NR_027676.2:n.2148A>G
  • U14680.1:n.2090A>G
  • p.Q657Q
Links:
Breast Cancer Information Core (BIC) (BRCA1): 2090&base_change=A to G; dbSNP: rs28897679
NCBI 1000 Genomes Browser:
rs28897679
Molecular consequence:
  • NM_001407968.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1181A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+2286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+2286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+2286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+2286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+2286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+2286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+2286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+2286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2528A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2528A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+2286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+2286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2528A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1184A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1758A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407581.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407582.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407583.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407585.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407587.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407590.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407591.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407593.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407594.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407596.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407597.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407598.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407602.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407603.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407605.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407610.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407611.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407612.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407613.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407614.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407615.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407616.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407617.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407618.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407619.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407620.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407621.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407622.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407623.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407624.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407625.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407626.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407627.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407628.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407629.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407630.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407631.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407632.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407633.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407634.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407635.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407636.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407637.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407638.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407639.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407640.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407641.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407642.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407644.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407645.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407646.1:c.1962A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407647.1:c.1962A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407648.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407649.1:c.1845A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407652.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407653.1:c.1893A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407654.1:c.1893A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407655.1:c.1893A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407656.1:c.1893A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407657.1:c.1893A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407658.1:c.1893A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407659.1:c.1890A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407660.1:c.1890A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407661.1:c.1890A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407662.1:c.1890A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407663.1:c.1893A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407664.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407665.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407666.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407667.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407668.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407669.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407670.1:c.1845A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407671.1:c.1845A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407672.1:c.1845A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407673.1:c.1845A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407674.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407675.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407676.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407677.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407678.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407679.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407680.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407681.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407682.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407683.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407684.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407685.1:c.1845A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407686.1:c.1845A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407687.1:c.1845A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407688.1:c.1845A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407689.1:c.1845A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407690.1:c.1845A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407691.1:c.1845A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407692.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407694.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407695.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407696.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407697.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407698.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407724.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407725.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407726.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407727.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407728.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407729.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407730.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407731.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407732.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407733.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407734.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407735.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407736.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407737.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407738.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407739.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407740.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407741.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407742.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407743.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407744.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407745.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407746.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407747.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407748.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407749.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407750.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407751.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407752.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407838.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407839.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407841.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407842.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407843.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407844.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407845.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407846.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407847.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407848.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407849.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407850.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407851.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407852.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407853.1:c.1758A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407854.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407858.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407859.1:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407860.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407861.1:c.1968A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407862.1:c.1770A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407863.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407874.1:c.1767A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407875.1:c.1767A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407879.1:c.1761A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407881.1:c.1761A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407882.1:c.1761A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407884.1:c.1761A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407885.1:c.1761A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407886.1:c.1761A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407887.1:c.1761A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407889.1:c.1761A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407894.1:c.1758A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407895.1:c.1758A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407896.1:c.1758A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407897.1:c.1758A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407898.1:c.1758A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407899.1:c.1758A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407900.1:c.1761A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407902.1:c.1761A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407904.1:c.1761A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407906.1:c.1761A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407907.1:c.1761A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407908.1:c.1761A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407909.1:c.1761A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407910.1:c.1761A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407915.1:c.1758A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407916.1:c.1758A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407917.1:c.1758A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407918.1:c.1758A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407919.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407920.1:c.1707A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407921.1:c.1707A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407922.1:c.1707A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407923.1:c.1707A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407924.1:c.1707A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407925.1:c.1707A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407926.1:c.1707A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407927.1:c.1707A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407928.1:c.1707A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407929.1:c.1707A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407930.1:c.1704A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407931.1:c.1704A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407932.1:c.1704A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407933.1:c.1707A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407934.1:c.1704A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407935.1:c.1707A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407936.1:c.1704A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407937.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407938.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407939.1:c.1848A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407940.1:c.1845A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407941.1:c.1845A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407942.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407943.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407944.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407945.1:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407946.1:c.1638A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407947.1:c.1638A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407948.1:c.1638A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407949.1:c.1638A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407950.1:c.1638A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407951.1:c.1638A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407952.1:c.1638A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407953.1:c.1638A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407954.1:c.1635A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407955.1:c.1635A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407956.1:c.1635A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407957.1:c.1638A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407958.1:c.1635A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407959.1:c.1590A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407960.1:c.1590A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407962.1:c.1587A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407963.1:c.1590A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407964.1:c.1827A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407965.1:c.1467A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407966.1:c.1083A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407967.1:c.1083A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007294.4:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007297.4:c.1830A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007300.4:c.1971A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000602680ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Benign
(Sep 19, 2023) 		germlineclinical testing

Citation Link,

SCV000778765Mayo Clinic Laboratories, Mayo Clinic
no assertion criteria provided
Likely benign
(Mar 9, 2017) 		unknownclinical testing

SCV005251072Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benigngermlinenot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providednot provided
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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000602680.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV000778765.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005251072.1

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

Last Updated: Nov 3, 2024