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NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Apr 19, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000129968.23

Allele description [Variation Report for NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro)]

NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro)

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.2060A>C (p.Gln687Pro)
Other names:
p.Gln687Pro
HGVS:
  • NC_000017.11:g.43093471T>G
  • NG_005905.2:g.124513A>C
  • NM_001407571.1:c.1847A>C
  • NM_001407581.1:c.2060A>C
  • NM_001407582.1:c.2060A>C
  • NM_001407583.1:c.2060A>C
  • NM_001407585.1:c.2060A>C
  • NM_001407587.1:c.2057A>C
  • NM_001407590.1:c.2057A>C
  • NM_001407591.1:c.2057A>C
  • NM_001407593.1:c.2060A>C
  • NM_001407594.1:c.2060A>C
  • NM_001407596.1:c.2060A>C
  • NM_001407597.1:c.2060A>C
  • NM_001407598.1:c.2060A>C
  • NM_001407602.1:c.2060A>C
  • NM_001407603.1:c.2060A>C
  • NM_001407605.1:c.2060A>C
  • NM_001407610.1:c.2057A>C
  • NM_001407611.1:c.2057A>C
  • NM_001407612.1:c.2057A>C
  • NM_001407613.1:c.2057A>C
  • NM_001407614.1:c.2057A>C
  • NM_001407615.1:c.2057A>C
  • NM_001407616.1:c.2060A>C
  • NM_001407617.1:c.2060A>C
  • NM_001407618.1:c.2060A>C
  • NM_001407619.1:c.2060A>C
  • NM_001407620.1:c.2060A>C
  • NM_001407621.1:c.2060A>C
  • NM_001407622.1:c.2060A>C
  • NM_001407623.1:c.2060A>C
  • NM_001407624.1:c.2060A>C
  • NM_001407625.1:c.2060A>C
  • NM_001407626.1:c.2060A>C
  • NM_001407627.1:c.2057A>C
  • NM_001407628.1:c.2057A>C
  • NM_001407629.1:c.2057A>C
  • NM_001407630.1:c.2057A>C
  • NM_001407631.1:c.2057A>C
  • NM_001407632.1:c.2057A>C
  • NM_001407633.1:c.2057A>C
  • NM_001407634.1:c.2057A>C
  • NM_001407635.1:c.2057A>C
  • NM_001407636.1:c.2057A>C
  • NM_001407637.1:c.2057A>C
  • NM_001407638.1:c.2057A>C
  • NM_001407639.1:c.2060A>C
  • NM_001407640.1:c.2060A>C
  • NM_001407641.1:c.2060A>C
  • NM_001407642.1:c.2060A>C
  • NM_001407644.1:c.2057A>C
  • NM_001407645.1:c.2057A>C
  • NM_001407646.1:c.2051A>C
  • NM_001407647.1:c.2051A>C
  • NM_001407648.1:c.1937A>C
  • NM_001407649.1:c.1934A>C
  • NM_001407652.1:c.2060A>C
  • NM_001407653.1:c.1982A>C
  • NM_001407654.1:c.1982A>C
  • NM_001407655.1:c.1982A>C
  • NM_001407656.1:c.1982A>C
  • NM_001407657.1:c.1982A>C
  • NM_001407658.1:c.1982A>C
  • NM_001407659.1:c.1979A>C
  • NM_001407660.1:c.1979A>C
  • NM_001407661.1:c.1979A>C
  • NM_001407662.1:c.1979A>C
  • NM_001407663.1:c.1982A>C
  • NM_001407664.1:c.1937A>C
  • NM_001407665.1:c.1937A>C
  • NM_001407666.1:c.1937A>C
  • NM_001407667.1:c.1937A>C
  • NM_001407668.1:c.1937A>C
  • NM_001407669.1:c.1937A>C
  • NM_001407670.1:c.1934A>C
  • NM_001407671.1:c.1934A>C
  • NM_001407672.1:c.1934A>C
  • NM_001407673.1:c.1934A>C
  • NM_001407674.1:c.1937A>C
  • NM_001407675.1:c.1937A>C
  • NM_001407676.1:c.1937A>C
  • NM_001407677.1:c.1937A>C
  • NM_001407678.1:c.1937A>C
  • NM_001407679.1:c.1937A>C
  • NM_001407680.1:c.1937A>C
  • NM_001407681.1:c.1937A>C
  • NM_001407682.1:c.1937A>C
  • NM_001407683.1:c.1937A>C
  • NM_001407684.1:c.2060A>C
  • NM_001407685.1:c.1934A>C
  • NM_001407686.1:c.1934A>C
  • NM_001407687.1:c.1934A>C
  • NM_001407688.1:c.1934A>C
  • NM_001407689.1:c.1934A>C
  • NM_001407690.1:c.1934A>C
  • NM_001407691.1:c.1934A>C
  • NM_001407692.1:c.1919A>C
  • NM_001407694.1:c.1919A>C
  • NM_001407695.1:c.1919A>C
  • NM_001407696.1:c.1919A>C
  • NM_001407697.1:c.1919A>C
  • NM_001407698.1:c.1919A>C
  • NM_001407724.1:c.1919A>C
  • NM_001407725.1:c.1919A>C
  • NM_001407726.1:c.1919A>C
  • NM_001407727.1:c.1919A>C
  • NM_001407728.1:c.1919A>C
  • NM_001407729.1:c.1919A>C
  • NM_001407730.1:c.1919A>C
  • NM_001407731.1:c.1919A>C
  • NM_001407732.1:c.1919A>C
  • NM_001407733.1:c.1919A>C
  • NM_001407734.1:c.1919A>C
  • NM_001407735.1:c.1919A>C
  • NM_001407736.1:c.1919A>C
  • NM_001407737.1:c.1919A>C
  • NM_001407738.1:c.1919A>C
  • NM_001407739.1:c.1919A>C
  • NM_001407740.1:c.1916A>C
  • NM_001407741.1:c.1916A>C
  • NM_001407742.1:c.1916A>C
  • NM_001407743.1:c.1916A>C
  • NM_001407744.1:c.1916A>C
  • NM_001407745.1:c.1916A>C
  • NM_001407746.1:c.1916A>C
  • NM_001407747.1:c.1916A>C
  • NM_001407748.1:c.1916A>C
  • NM_001407749.1:c.1916A>C
  • NM_001407750.1:c.1919A>C
  • NM_001407751.1:c.1919A>C
  • NM_001407752.1:c.1919A>C
  • NM_001407838.1:c.1916A>C
  • NM_001407839.1:c.1916A>C
  • NM_001407841.1:c.1916A>C
  • NM_001407842.1:c.1916A>C
  • NM_001407843.1:c.1916A>C
  • NM_001407844.1:c.1916A>C
  • NM_001407845.1:c.1916A>C
  • NM_001407846.1:c.1916A>C
  • NM_001407847.1:c.1916A>C
  • NM_001407848.1:c.1916A>C
  • NM_001407849.1:c.1916A>C
  • NM_001407850.1:c.1919A>C
  • NM_001407851.1:c.1919A>C
  • NM_001407852.1:c.1919A>C
  • NM_001407853.1:c.1847A>C
  • NM_001407854.1:c.2060A>C
  • NM_001407858.1:c.2060A>C
  • NM_001407859.1:c.2060A>C
  • NM_001407860.1:c.2057A>C
  • NM_001407861.1:c.2057A>C
  • NM_001407862.1:c.1859A>C
  • NM_001407863.1:c.1937A>C
  • NM_001407874.1:c.1856A>C
  • NM_001407875.1:c.1856A>C
  • NM_001407879.1:c.1850A>C
  • NM_001407881.1:c.1850A>C
  • NM_001407882.1:c.1850A>C
  • NM_001407884.1:c.1850A>C
  • NM_001407885.1:c.1850A>C
  • NM_001407886.1:c.1850A>C
  • NM_001407887.1:c.1850A>C
  • NM_001407889.1:c.1850A>C
  • NM_001407894.1:c.1847A>C
  • NM_001407895.1:c.1847A>C
  • NM_001407896.1:c.1847A>C
  • NM_001407897.1:c.1847A>C
  • NM_001407898.1:c.1847A>C
  • NM_001407899.1:c.1847A>C
  • NM_001407900.1:c.1850A>C
  • NM_001407902.1:c.1850A>C
  • NM_001407904.1:c.1850A>C
  • NM_001407906.1:c.1850A>C
  • NM_001407907.1:c.1850A>C
  • NM_001407908.1:c.1850A>C
  • NM_001407909.1:c.1850A>C
  • NM_001407910.1:c.1850A>C
  • NM_001407915.1:c.1847A>C
  • NM_001407916.1:c.1847A>C
  • NM_001407917.1:c.1847A>C
  • NM_001407918.1:c.1847A>C
  • NM_001407919.1:c.1937A>C
  • NM_001407920.1:c.1796A>C
  • NM_001407921.1:c.1796A>C
  • NM_001407922.1:c.1796A>C
  • NM_001407923.1:c.1796A>C
  • NM_001407924.1:c.1796A>C
  • NM_001407925.1:c.1796A>C
  • NM_001407926.1:c.1796A>C
  • NM_001407927.1:c.1796A>C
  • NM_001407928.1:c.1796A>C
  • NM_001407929.1:c.1796A>C
  • NM_001407930.1:c.1793A>C
  • NM_001407931.1:c.1793A>C
  • NM_001407932.1:c.1793A>C
  • NM_001407933.1:c.1796A>C
  • NM_001407934.1:c.1793A>C
  • NM_001407935.1:c.1796A>C
  • NM_001407936.1:c.1793A>C
  • NM_001407937.1:c.1937A>C
  • NM_001407938.1:c.1937A>C
  • NM_001407939.1:c.1937A>C
  • NM_001407940.1:c.1934A>C
  • NM_001407941.1:c.1934A>C
  • NM_001407942.1:c.1919A>C
  • NM_001407943.1:c.1916A>C
  • NM_001407944.1:c.1919A>C
  • NM_001407945.1:c.1919A>C
  • NM_001407946.1:c.1727A>C
  • NM_001407947.1:c.1727A>C
  • NM_001407948.1:c.1727A>C
  • NM_001407949.1:c.1727A>C
  • NM_001407950.1:c.1727A>C
  • NM_001407951.1:c.1727A>C
  • NM_001407952.1:c.1727A>C
  • NM_001407953.1:c.1727A>C
  • NM_001407954.1:c.1724A>C
  • NM_001407955.1:c.1724A>C
  • NM_001407956.1:c.1724A>C
  • NM_001407957.1:c.1727A>C
  • NM_001407958.1:c.1724A>C
  • NM_001407959.1:c.1679A>C
  • NM_001407960.1:c.1679A>C
  • NM_001407962.1:c.1676A>C
  • NM_001407963.1:c.1679A>C
  • NM_001407964.1:c.1916A>C
  • NM_001407965.1:c.1556A>C
  • NM_001407966.1:c.1172A>C
  • NM_001407967.1:c.1172A>C
  • NM_001407968.1:c.787+1273A>C
  • NM_001407969.1:c.787+1273A>C
  • NM_001407970.1:c.787+1273A>C
  • NM_001407971.1:c.787+1273A>C
  • NM_001407972.1:c.784+1273A>C
  • NM_001407973.1:c.787+1273A>C
  • NM_001407974.1:c.787+1273A>C
  • NM_001407975.1:c.787+1273A>C
  • NM_001407976.1:c.787+1273A>C
  • NM_001407977.1:c.787+1273A>C
  • NM_001407978.1:c.787+1273A>C
  • NM_001407979.1:c.787+1273A>C
  • NM_001407980.1:c.787+1273A>C
  • NM_001407981.1:c.787+1273A>C
  • NM_001407982.1:c.787+1273A>C
  • NM_001407983.1:c.787+1273A>C
  • NM_001407984.1:c.784+1273A>C
  • NM_001407985.1:c.784+1273A>C
  • NM_001407986.1:c.784+1273A>C
  • NM_001407990.1:c.787+1273A>C
  • NM_001407991.1:c.784+1273A>C
  • NM_001407992.1:c.784+1273A>C
  • NM_001407993.1:c.787+1273A>C
  • NM_001408392.1:c.784+1273A>C
  • NM_001408396.1:c.784+1273A>C
  • NM_001408397.1:c.784+1273A>C
  • NM_001408398.1:c.784+1273A>C
  • NM_001408399.1:c.784+1273A>C
  • NM_001408400.1:c.784+1273A>C
  • NM_001408401.1:c.784+1273A>C
  • NM_001408402.1:c.784+1273A>C
  • NM_001408403.1:c.787+1273A>C
  • NM_001408404.1:c.787+1273A>C
  • NM_001408406.1:c.790+1270A>C
  • NM_001408407.1:c.784+1273A>C
  • NM_001408408.1:c.778+1273A>C
  • NM_001408409.1:c.709+1273A>C
  • NM_001408410.1:c.646+1273A>C
  • NM_001408411.1:c.709+1273A>C
  • NM_001408412.1:c.709+1273A>C
  • NM_001408413.1:c.706+1273A>C
  • NM_001408414.1:c.709+1273A>C
  • NM_001408415.1:c.709+1273A>C
  • NM_001408416.1:c.706+1273A>C
  • NM_001408418.1:c.670+2375A>C
  • NM_001408419.1:c.670+2375A>C
  • NM_001408420.1:c.670+2375A>C
  • NM_001408421.1:c.667+2375A>C
  • NM_001408422.1:c.670+2375A>C
  • NM_001408423.1:c.670+2375A>C
  • NM_001408424.1:c.667+2375A>C
  • NM_001408425.1:c.664+1273A>C
  • NM_001408426.1:c.664+1273A>C
  • NM_001408427.1:c.664+1273A>C
  • NM_001408428.1:c.664+1273A>C
  • NM_001408429.1:c.664+1273A>C
  • NM_001408430.1:c.664+1273A>C
  • NM_001408431.1:c.667+2375A>C
  • NM_001408432.1:c.661+1273A>C
  • NM_001408433.1:c.661+1273A>C
  • NM_001408434.1:c.661+1273A>C
  • NM_001408435.1:c.661+1273A>C
  • NM_001408436.1:c.664+1273A>C
  • NM_001408437.1:c.664+1273A>C
  • NM_001408438.1:c.664+1273A>C
  • NM_001408439.1:c.664+1273A>C
  • NM_001408440.1:c.664+1273A>C
  • NM_001408441.1:c.664+1273A>C
  • NM_001408442.1:c.664+1273A>C
  • NM_001408443.1:c.664+1273A>C
  • NM_001408444.1:c.664+1273A>C
  • NM_001408445.1:c.661+1273A>C
  • NM_001408446.1:c.661+1273A>C
  • NM_001408447.1:c.661+1273A>C
  • NM_001408448.1:c.661+1273A>C
  • NM_001408450.1:c.661+1273A>C
  • NM_001408451.1:c.652+1273A>C
  • NM_001408452.1:c.646+1273A>C
  • NM_001408453.1:c.646+1273A>C
  • NM_001408454.1:c.646+1273A>C
  • NM_001408455.1:c.646+1273A>C
  • NM_001408456.1:c.646+1273A>C
  • NM_001408457.1:c.646+1273A>C
  • NM_001408458.1:c.646+1273A>C
  • NM_001408459.1:c.646+1273A>C
  • NM_001408460.1:c.646+1273A>C
  • NM_001408461.1:c.646+1273A>C
  • NM_001408462.1:c.643+1273A>C
  • NM_001408463.1:c.643+1273A>C
  • NM_001408464.1:c.643+1273A>C
  • NM_001408465.1:c.643+1273A>C
  • NM_001408466.1:c.646+1273A>C
  • NM_001408467.1:c.646+1273A>C
  • NM_001408468.1:c.643+1273A>C
  • NM_001408469.1:c.646+1273A>C
  • NM_001408470.1:c.643+1273A>C
  • NM_001408472.1:c.787+1273A>C
  • NM_001408473.1:c.784+1273A>C
  • NM_001408474.1:c.586+1273A>C
  • NM_001408475.1:c.583+1273A>C
  • NM_001408476.1:c.586+1273A>C
  • NM_001408478.1:c.577+1273A>C
  • NM_001408479.1:c.577+1273A>C
  • NM_001408480.1:c.577+1273A>C
  • NM_001408481.1:c.577+1273A>C
  • NM_001408482.1:c.577+1273A>C
  • NM_001408483.1:c.577+1273A>C
  • NM_001408484.1:c.577+1273A>C
  • NM_001408485.1:c.577+1273A>C
  • NM_001408489.1:c.577+1273A>C
  • NM_001408490.1:c.574+1273A>C
  • NM_001408491.1:c.574+1273A>C
  • NM_001408492.1:c.577+1273A>C
  • NM_001408493.1:c.574+1273A>C
  • NM_001408494.1:c.548-2439A>C
  • NM_001408495.1:c.545-2439A>C
  • NM_001408496.1:c.523+1273A>C
  • NM_001408497.1:c.523+1273A>C
  • NM_001408498.1:c.523+1273A>C
  • NM_001408499.1:c.523+1273A>C
  • NM_001408500.1:c.523+1273A>C
  • NM_001408501.1:c.523+1273A>C
  • NM_001408502.1:c.454+1273A>C
  • NM_001408503.1:c.520+1273A>C
  • NM_001408504.1:c.520+1273A>C
  • NM_001408505.1:c.520+1273A>C
  • NM_001408506.1:c.460+2375A>C
  • NM_001408507.1:c.460+2375A>C
  • NM_001408508.1:c.451+1273A>C
  • NM_001408509.1:c.451+1273A>C
  • NM_001408510.1:c.406+1273A>C
  • NM_001408511.1:c.404-2439A>C
  • NM_001408512.1:c.283+1273A>C
  • NM_001408513.1:c.577+1273A>C
  • NM_001408514.1:c.577+1273A>C
  • NM_007294.4:c.2060A>CMANE SELECT
  • NM_007297.4:c.1919A>C
  • NM_007298.4:c.787+1273A>C
  • NM_007299.4:c.787+1273A>C
  • NM_007300.4:c.2060A>C
  • NP_001394500.1:p.Gln616Pro
  • NP_001394510.1:p.Gln687Pro
  • NP_001394511.1:p.Gln687Pro
  • NP_001394512.1:p.Gln687Pro
  • NP_001394514.1:p.Gln687Pro
  • NP_001394516.1:p.Gln686Pro
  • NP_001394519.1:p.Gln686Pro
  • NP_001394520.1:p.Gln686Pro
  • NP_001394522.1:p.Gln687Pro
  • NP_001394523.1:p.Gln687Pro
  • NP_001394525.1:p.Gln687Pro
  • NP_001394526.1:p.Gln687Pro
  • NP_001394527.1:p.Gln687Pro
  • NP_001394531.1:p.Gln687Pro
  • NP_001394532.1:p.Gln687Pro
  • NP_001394534.1:p.Gln687Pro
  • NP_001394539.1:p.Gln686Pro
  • NP_001394540.1:p.Gln686Pro
  • NP_001394541.1:p.Gln686Pro
  • NP_001394542.1:p.Gln686Pro
  • NP_001394543.1:p.Gln686Pro
  • NP_001394544.1:p.Gln686Pro
  • NP_001394545.1:p.Gln687Pro
  • NP_001394546.1:p.Gln687Pro
  • NP_001394547.1:p.Gln687Pro
  • NP_001394548.1:p.Gln687Pro
  • NP_001394549.1:p.Gln687Pro
  • NP_001394550.1:p.Gln687Pro
  • NP_001394551.1:p.Gln687Pro
  • NP_001394552.1:p.Gln687Pro
  • NP_001394553.1:p.Gln687Pro
  • NP_001394554.1:p.Gln687Pro
  • NP_001394555.1:p.Gln687Pro
  • NP_001394556.1:p.Gln686Pro
  • NP_001394557.1:p.Gln686Pro
  • NP_001394558.1:p.Gln686Pro
  • NP_001394559.1:p.Gln686Pro
  • NP_001394560.1:p.Gln686Pro
  • NP_001394561.1:p.Gln686Pro
  • NP_001394562.1:p.Gln686Pro
  • NP_001394563.1:p.Gln686Pro
  • NP_001394564.1:p.Gln686Pro
  • NP_001394565.1:p.Gln686Pro
  • NP_001394566.1:p.Gln686Pro
  • NP_001394567.1:p.Gln686Pro
  • NP_001394568.1:p.Gln687Pro
  • NP_001394569.1:p.Gln687Pro
  • NP_001394570.1:p.Gln687Pro
  • NP_001394571.1:p.Gln687Pro
  • NP_001394573.1:p.Gln686Pro
  • NP_001394574.1:p.Gln686Pro
  • NP_001394575.1:p.Gln684Pro
  • NP_001394576.1:p.Gln684Pro
  • NP_001394577.1:p.Gln646Pro
  • NP_001394578.1:p.Gln645Pro
  • NP_001394581.1:p.Gln687Pro
  • NP_001394582.1:p.Gln661Pro
  • NP_001394583.1:p.Gln661Pro
  • NP_001394584.1:p.Gln661Pro
  • NP_001394585.1:p.Gln661Pro
  • NP_001394586.1:p.Gln661Pro
  • NP_001394587.1:p.Gln661Pro
  • NP_001394588.1:p.Gln660Pro
  • NP_001394589.1:p.Gln660Pro
  • NP_001394590.1:p.Gln660Pro
  • NP_001394591.1:p.Gln660Pro
  • NP_001394592.1:p.Gln661Pro
  • NP_001394593.1:p.Gln646Pro
  • NP_001394594.1:p.Gln646Pro
  • NP_001394595.1:p.Gln646Pro
  • NP_001394596.1:p.Gln646Pro
  • NP_001394597.1:p.Gln646Pro
  • NP_001394598.1:p.Gln646Pro
  • NP_001394599.1:p.Gln645Pro
  • NP_001394600.1:p.Gln645Pro
  • NP_001394601.1:p.Gln645Pro
  • NP_001394602.1:p.Gln645Pro
  • NP_001394603.1:p.Gln646Pro
  • NP_001394604.1:p.Gln646Pro
  • NP_001394605.1:p.Gln646Pro
  • NP_001394606.1:p.Gln646Pro
  • NP_001394607.1:p.Gln646Pro
  • NP_001394608.1:p.Gln646Pro
  • NP_001394609.1:p.Gln646Pro
  • NP_001394610.1:p.Gln646Pro
  • NP_001394611.1:p.Gln646Pro
  • NP_001394612.1:p.Gln646Pro
  • NP_001394613.1:p.Gln687Pro
  • NP_001394614.1:p.Gln645Pro
  • NP_001394615.1:p.Gln645Pro
  • NP_001394616.1:p.Gln645Pro
  • NP_001394617.1:p.Gln645Pro
  • NP_001394618.1:p.Gln645Pro
  • NP_001394619.1:p.Gln645Pro
  • NP_001394620.1:p.Gln645Pro
  • NP_001394621.1:p.Gln640Pro
  • NP_001394623.1:p.Gln640Pro
  • NP_001394624.1:p.Gln640Pro
  • NP_001394625.1:p.Gln640Pro
  • NP_001394626.1:p.Gln640Pro
  • NP_001394627.1:p.Gln640Pro
  • NP_001394653.1:p.Gln640Pro
  • NP_001394654.1:p.Gln640Pro
  • NP_001394655.1:p.Gln640Pro
  • NP_001394656.1:p.Gln640Pro
  • NP_001394657.1:p.Gln640Pro
  • NP_001394658.1:p.Gln640Pro
  • NP_001394659.1:p.Gln640Pro
  • NP_001394660.1:p.Gln640Pro
  • NP_001394661.1:p.Gln640Pro
  • NP_001394662.1:p.Gln640Pro
  • NP_001394663.1:p.Gln640Pro
  • NP_001394664.1:p.Gln640Pro
  • NP_001394665.1:p.Gln640Pro
  • NP_001394666.1:p.Gln640Pro
  • NP_001394667.1:p.Gln640Pro
  • NP_001394668.1:p.Gln640Pro
  • NP_001394669.1:p.Gln639Pro
  • NP_001394670.1:p.Gln639Pro
  • NP_001394671.1:p.Gln639Pro
  • NP_001394672.1:p.Gln639Pro
  • NP_001394673.1:p.Gln639Pro
  • NP_001394674.1:p.Gln639Pro
  • NP_001394675.1:p.Gln639Pro
  • NP_001394676.1:p.Gln639Pro
  • NP_001394677.1:p.Gln639Pro
  • NP_001394678.1:p.Gln639Pro
  • NP_001394679.1:p.Gln640Pro
  • NP_001394680.1:p.Gln640Pro
  • NP_001394681.1:p.Gln640Pro
  • NP_001394767.1:p.Gln639Pro
  • NP_001394768.1:p.Gln639Pro
  • NP_001394770.1:p.Gln639Pro
  • NP_001394771.1:p.Gln639Pro
  • NP_001394772.1:p.Gln639Pro
  • NP_001394773.1:p.Gln639Pro
  • NP_001394774.1:p.Gln639Pro
  • NP_001394775.1:p.Gln639Pro
  • NP_001394776.1:p.Gln639Pro
  • NP_001394777.1:p.Gln639Pro
  • NP_001394778.1:p.Gln639Pro
  • NP_001394779.1:p.Gln640Pro
  • NP_001394780.1:p.Gln640Pro
  • NP_001394781.1:p.Gln640Pro
  • NP_001394782.1:p.Gln616Pro
  • NP_001394783.1:p.Gln687Pro
  • NP_001394787.1:p.Gln687Pro
  • NP_001394788.1:p.Gln687Pro
  • NP_001394789.1:p.Gln686Pro
  • NP_001394790.1:p.Gln686Pro
  • NP_001394791.1:p.Gln620Pro
  • NP_001394792.1:p.Gln646Pro
  • NP_001394803.1:p.Gln619Pro
  • NP_001394804.1:p.Gln619Pro
  • NP_001394808.1:p.Gln617Pro
  • NP_001394810.1:p.Gln617Pro
  • NP_001394811.1:p.Gln617Pro
  • NP_001394813.1:p.Gln617Pro
  • NP_001394814.1:p.Gln617Pro
  • NP_001394815.1:p.Gln617Pro
  • NP_001394816.1:p.Gln617Pro
  • NP_001394818.1:p.Gln617Pro
  • NP_001394823.1:p.Gln616Pro
  • NP_001394824.1:p.Gln616Pro
  • NP_001394825.1:p.Gln616Pro
  • NP_001394826.1:p.Gln616Pro
  • NP_001394827.1:p.Gln616Pro
  • NP_001394828.1:p.Gln616Pro
  • NP_001394829.1:p.Gln617Pro
  • NP_001394831.1:p.Gln617Pro
  • NP_001394833.1:p.Gln617Pro
  • NP_001394835.1:p.Gln617Pro
  • NP_001394836.1:p.Gln617Pro
  • NP_001394837.1:p.Gln617Pro
  • NP_001394838.1:p.Gln617Pro
  • NP_001394839.1:p.Gln617Pro
  • NP_001394844.1:p.Gln616Pro
  • NP_001394845.1:p.Gln616Pro
  • NP_001394846.1:p.Gln616Pro
  • NP_001394847.1:p.Gln616Pro
  • NP_001394848.1:p.Gln646Pro
  • NP_001394849.1:p.Gln599Pro
  • NP_001394850.1:p.Gln599Pro
  • NP_001394851.1:p.Gln599Pro
  • NP_001394852.1:p.Gln599Pro
  • NP_001394853.1:p.Gln599Pro
  • NP_001394854.1:p.Gln599Pro
  • NP_001394855.1:p.Gln599Pro
  • NP_001394856.1:p.Gln599Pro
  • NP_001394857.1:p.Gln599Pro
  • NP_001394858.1:p.Gln599Pro
  • NP_001394859.1:p.Gln598Pro
  • NP_001394860.1:p.Gln598Pro
  • NP_001394861.1:p.Gln598Pro
  • NP_001394862.1:p.Gln599Pro
  • NP_001394863.1:p.Gln598Pro
  • NP_001394864.1:p.Gln599Pro
  • NP_001394865.1:p.Gln598Pro
  • NP_001394866.1:p.Gln646Pro
  • NP_001394867.1:p.Gln646Pro
  • NP_001394868.1:p.Gln646Pro
  • NP_001394869.1:p.Gln645Pro
  • NP_001394870.1:p.Gln645Pro
  • NP_001394871.1:p.Gln640Pro
  • NP_001394872.1:p.Gln639Pro
  • NP_001394873.1:p.Gln640Pro
  • NP_001394874.1:p.Gln640Pro
  • NP_001394875.1:p.Gln576Pro
  • NP_001394876.1:p.Gln576Pro
  • NP_001394877.1:p.Gln576Pro
  • NP_001394878.1:p.Gln576Pro
  • NP_001394879.1:p.Gln576Pro
  • NP_001394880.1:p.Gln576Pro
  • NP_001394881.1:p.Gln576Pro
  • NP_001394882.1:p.Gln576Pro
  • NP_001394883.1:p.Gln575Pro
  • NP_001394884.1:p.Gln575Pro
  • NP_001394885.1:p.Gln575Pro
  • NP_001394886.1:p.Gln576Pro
  • NP_001394887.1:p.Gln575Pro
  • NP_001394888.1:p.Gln560Pro
  • NP_001394889.1:p.Gln560Pro
  • NP_001394891.1:p.Gln559Pro
  • NP_001394892.1:p.Gln560Pro
  • NP_001394893.1:p.Gln639Pro
  • NP_001394894.1:p.Gln519Pro
  • NP_001394895.1:p.Gln391Pro
  • NP_001394896.1:p.Gln391Pro
  • NP_009225.1:p.Gln687Pro
  • NP_009225.1:p.Gln687Pro
  • NP_009228.2:p.Gln640Pro
  • NP_009231.2:p.Gln687Pro
  • LRG_292t1:c.2060A>C
  • LRG_292:g.124513A>C
  • LRG_292p1:p.Gln687Pro
  • NC_000017.10:g.41245488T>G
  • NM_007294.3:c.2060A>C
  • NR_027676.1:n.2196A>C
  • U14680.1:n.2179A>C
  • p.Q687P
Nucleotide change:
2179A>C
Protein change:
Q391P
Links:
dbSNP: rs28897680
NCBI 1000 Genomes Browser:
rs28897680
Molecular consequence:
  • NM_001407968.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1270A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2439A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2439A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+2375A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2439A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.2051A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.2051A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1982A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1982A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1982A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1982A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1982A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1982A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1979A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1979A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1979A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1979A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1982A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.2057A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1859A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1856A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1856A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1850A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1847A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1793A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1793A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1793A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1793A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1796A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1793A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1724A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1724A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1724A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1727A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1724A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1676A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1916A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1556A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.1172A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.1172A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2060A>C - 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
SCV000184792Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 20, 2022) 		germlineclinical testing

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

Citation Link,

SCV000683009Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 19, 2023) 		germlineclinical testing

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

SCV003849536University of Washington Department of Laboratory Medicine, University of Washington
criteria provided, single submitter

(Dines et al. (Genet Med. 2020))		Likely benign
(Mar 23, 2023) 		germlinecuration

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

Help

Summary from all submissions

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

Citations

PubMed

Natural selection and mammalian BRCA1 sequences: elucidating functionally important sites relevant to breast cancer susceptibility in humans.

Burk-Herrick A, Scally M, Amrine-Madsen H, Stanhope MJ, Springer MS.

Mamm Genome. 2006 Mar;17(3):257-70. Epub 2006 Mar 3.

PubMed [citation]
PMID:
16518693

Identification and in silico analysis of functional SNPs of the BRCA1 gene.

Rajasekaran R, Sudandiradoss C, Doss CG, Sethumadhavan R.

Genomics. 2007 Oct;90(4):447-52. Epub 2007 Aug 27.

PubMed [citation]
PMID:
17719744
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000184792.9

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

Description

The p.Q687P variant (also known as c.2060A>C), located in coding exon 9 of the BRCA1 gene, results from an A to C substitution at nucleotide position 2060. The glutamine at codon 687 is replaced by proline, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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

From Color Diagnostics, LLC DBA Color Health, SCV000683009.4

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

Description

This missense variant replaces glutamine with proline at codon 687 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been detected in a breast cancer case-control meta-analysis in 1/60466 cases and 1/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_000181). A multifactorial analysis has reported likelihood ratios for pathogenicity based on co-occurrence with a pathogenic variant and family history of 1.0673 and 0.311, respectively (PMID: 31131967). This variant has been identified in 3/282714 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003849536.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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

Last Updated: Nov 10, 2024