NM_007294.4(BRCA1):c.1870G>T (p.Glu624Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 26, 2021
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:: RCV002408553.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.1870G>T (p.Glu624Ter)]

NM_007294.4(BRCA1):c.1870G>T (p.Glu624Ter)

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.1870G>T (p.Glu624Ter)

HGVS:

NC_000017.11:g.43093661C>A
NG_005905.2:g.124323G>T
NM_001407571.1:c.1657G>T
NM_001407581.1:c.1870G>T
NM_001407582.1:c.1870G>T
NM_001407583.1:c.1870G>T
NM_001407585.1:c.1870G>T
NM_001407587.1:c.1867G>T
NM_001407590.1:c.1867G>T
NM_001407591.1:c.1867G>T
NM_001407593.1:c.1870G>T
NM_001407594.1:c.1870G>T
NM_001407596.1:c.1870G>T
NM_001407597.1:c.1870G>T
NM_001407598.1:c.1870G>T
NM_001407602.1:c.1870G>T
NM_001407603.1:c.1870G>T
NM_001407605.1:c.1870G>T
NM_001407610.1:c.1867G>T
NM_001407611.1:c.1867G>T
NM_001407612.1:c.1867G>T
NM_001407613.1:c.1867G>T
NM_001407614.1:c.1867G>T
NM_001407615.1:c.1867G>T
NM_001407616.1:c.1870G>T
NM_001407617.1:c.1870G>T
NM_001407618.1:c.1870G>T
NM_001407619.1:c.1870G>T
NM_001407620.1:c.1870G>T
NM_001407621.1:c.1870G>T
NM_001407622.1:c.1870G>T
NM_001407623.1:c.1870G>T
NM_001407624.1:c.1870G>T
NM_001407625.1:c.1870G>T
NM_001407626.1:c.1870G>T
NM_001407627.1:c.1867G>T
NM_001407628.1:c.1867G>T
NM_001407629.1:c.1867G>T
NM_001407630.1:c.1867G>T
NM_001407631.1:c.1867G>T
NM_001407632.1:c.1867G>T
NM_001407633.1:c.1867G>T
NM_001407634.1:c.1867G>T
NM_001407635.1:c.1867G>T
NM_001407636.1:c.1867G>T
NM_001407637.1:c.1867G>T
NM_001407638.1:c.1867G>T
NM_001407639.1:c.1870G>T
NM_001407640.1:c.1870G>T
NM_001407641.1:c.1870G>T
NM_001407642.1:c.1870G>T
NM_001407644.1:c.1867G>T
NM_001407645.1:c.1867G>T
NM_001407646.1:c.1861G>T
NM_001407647.1:c.1861G>T
NM_001407648.1:c.1747G>T
NM_001407649.1:c.1744G>T
NM_001407652.1:c.1870G>T
NM_001407653.1:c.1792G>T
NM_001407654.1:c.1792G>T
NM_001407655.1:c.1792G>T
NM_001407656.1:c.1792G>T
NM_001407657.1:c.1792G>T
NM_001407658.1:c.1792G>T
NM_001407659.1:c.1789G>T
NM_001407660.1:c.1789G>T
NM_001407661.1:c.1789G>T
NM_001407662.1:c.1789G>T
NM_001407663.1:c.1792G>T
NM_001407664.1:c.1747G>T
NM_001407665.1:c.1747G>T
NM_001407666.1:c.1747G>T
NM_001407667.1:c.1747G>T
NM_001407668.1:c.1747G>T
NM_001407669.1:c.1747G>T
NM_001407670.1:c.1744G>T
NM_001407671.1:c.1744G>T
NM_001407672.1:c.1744G>T
NM_001407673.1:c.1744G>T
NM_001407674.1:c.1747G>T
NM_001407675.1:c.1747G>T
NM_001407676.1:c.1747G>T
NM_001407677.1:c.1747G>T
NM_001407678.1:c.1747G>T
NM_001407679.1:c.1747G>T
NM_001407680.1:c.1747G>T
NM_001407681.1:c.1747G>T
NM_001407682.1:c.1747G>T
NM_001407683.1:c.1747G>T
NM_001407684.1:c.1870G>T
NM_001407685.1:c.1744G>T
NM_001407686.1:c.1744G>T
NM_001407687.1:c.1744G>T
NM_001407688.1:c.1744G>T
NM_001407689.1:c.1744G>T
NM_001407690.1:c.1744G>T
NM_001407691.1:c.1744G>T
NM_001407692.1:c.1729G>T
NM_001407694.1:c.1729G>T
NM_001407695.1:c.1729G>T
NM_001407696.1:c.1729G>T
NM_001407697.1:c.1729G>T
NM_001407698.1:c.1729G>T
NM_001407724.1:c.1729G>T
NM_001407725.1:c.1729G>T
NM_001407726.1:c.1729G>T
NM_001407727.1:c.1729G>T
NM_001407728.1:c.1729G>T
NM_001407729.1:c.1729G>T
NM_001407730.1:c.1729G>T
NM_001407731.1:c.1729G>T
NM_001407732.1:c.1729G>T
NM_001407733.1:c.1729G>T
NM_001407734.1:c.1729G>T
NM_001407735.1:c.1729G>T
NM_001407736.1:c.1729G>T
NM_001407737.1:c.1729G>T
NM_001407738.1:c.1729G>T
NM_001407739.1:c.1729G>T
NM_001407740.1:c.1726G>T
NM_001407741.1:c.1726G>T
NM_001407742.1:c.1726G>T
NM_001407743.1:c.1726G>T
NM_001407744.1:c.1726G>T
NM_001407745.1:c.1726G>T
NM_001407746.1:c.1726G>T
NM_001407747.1:c.1726G>T
NM_001407748.1:c.1726G>T
NM_001407749.1:c.1726G>T
NM_001407750.1:c.1729G>T
NM_001407751.1:c.1729G>T
NM_001407752.1:c.1729G>T
NM_001407838.1:c.1726G>T
NM_001407839.1:c.1726G>T
NM_001407841.1:c.1726G>T
NM_001407842.1:c.1726G>T
NM_001407843.1:c.1726G>T
NM_001407844.1:c.1726G>T
NM_001407845.1:c.1726G>T
NM_001407846.1:c.1726G>T
NM_001407847.1:c.1726G>T
NM_001407848.1:c.1726G>T
NM_001407849.1:c.1726G>T
NM_001407850.1:c.1729G>T
NM_001407851.1:c.1729G>T
NM_001407852.1:c.1729G>T
NM_001407853.1:c.1657G>T
NM_001407854.1:c.1870G>T
NM_001407858.1:c.1870G>T
NM_001407859.1:c.1870G>T
NM_001407860.1:c.1867G>T
NM_001407861.1:c.1867G>T
NM_001407862.1:c.1669G>T
NM_001407863.1:c.1747G>T
NM_001407874.1:c.1666G>T
NM_001407875.1:c.1666G>T
NM_001407879.1:c.1660G>T
NM_001407881.1:c.1660G>T
NM_001407882.1:c.1660G>T
NM_001407884.1:c.1660G>T
NM_001407885.1:c.1660G>T
NM_001407886.1:c.1660G>T
NM_001407887.1:c.1660G>T
NM_001407889.1:c.1660G>T
NM_001407894.1:c.1657G>T
NM_001407895.1:c.1657G>T
NM_001407896.1:c.1657G>T
NM_001407897.1:c.1657G>T
NM_001407898.1:c.1657G>T
NM_001407899.1:c.1657G>T
NM_001407900.1:c.1660G>T
NM_001407902.1:c.1660G>T
NM_001407904.1:c.1660G>T
NM_001407906.1:c.1660G>T
NM_001407907.1:c.1660G>T
NM_001407908.1:c.1660G>T
NM_001407909.1:c.1660G>T
NM_001407910.1:c.1660G>T
NM_001407915.1:c.1657G>T
NM_001407916.1:c.1657G>T
NM_001407917.1:c.1657G>T
NM_001407918.1:c.1657G>T
NM_001407919.1:c.1747G>T
NM_001407920.1:c.1606G>T
NM_001407921.1:c.1606G>T
NM_001407922.1:c.1606G>T
NM_001407923.1:c.1606G>T
NM_001407924.1:c.1606G>T
NM_001407925.1:c.1606G>T
NM_001407926.1:c.1606G>T
NM_001407927.1:c.1606G>T
NM_001407928.1:c.1606G>T
NM_001407929.1:c.1606G>T
NM_001407930.1:c.1603G>T
NM_001407931.1:c.1603G>T
NM_001407932.1:c.1603G>T
NM_001407933.1:c.1606G>T
NM_001407934.1:c.1603G>T
NM_001407935.1:c.1606G>T
NM_001407936.1:c.1603G>T
NM_001407937.1:c.1747G>T
NM_001407938.1:c.1747G>T
NM_001407939.1:c.1747G>T
NM_001407940.1:c.1744G>T
NM_001407941.1:c.1744G>T
NM_001407942.1:c.1729G>T
NM_001407943.1:c.1726G>T
NM_001407944.1:c.1729G>T
NM_001407945.1:c.1729G>T
NM_001407946.1:c.1537G>T
NM_001407947.1:c.1537G>T
NM_001407948.1:c.1537G>T
NM_001407949.1:c.1537G>T
NM_001407950.1:c.1537G>T
NM_001407951.1:c.1537G>T
NM_001407952.1:c.1537G>T
NM_001407953.1:c.1537G>T
NM_001407954.1:c.1534G>T
NM_001407955.1:c.1534G>T
NM_001407956.1:c.1534G>T
NM_001407957.1:c.1537G>T
NM_001407958.1:c.1534G>T
NM_001407959.1:c.1489G>T
NM_001407960.1:c.1489G>T
NM_001407962.1:c.1486G>T
NM_001407963.1:c.1489G>T
NM_001407964.1:c.1726G>T
NM_001407965.1:c.1366G>T
NM_001407966.1:c.982G>T
NM_001407967.1:c.982G>T
NM_001407968.1:c.787+1083G>T
NM_001407969.1:c.787+1083G>T
NM_001407970.1:c.787+1083G>T
NM_001407971.1:c.787+1083G>T
NM_001407972.1:c.784+1083G>T
NM_001407973.1:c.787+1083G>T
NM_001407974.1:c.787+1083G>T
NM_001407975.1:c.787+1083G>T
NM_001407976.1:c.787+1083G>T
NM_001407977.1:c.787+1083G>T
NM_001407978.1:c.787+1083G>T
NM_001407979.1:c.787+1083G>T
NM_001407980.1:c.787+1083G>T
NM_001407981.1:c.787+1083G>T
NM_001407982.1:c.787+1083G>T
NM_001407983.1:c.787+1083G>T
NM_001407984.1:c.784+1083G>T
NM_001407985.1:c.784+1083G>T
NM_001407986.1:c.784+1083G>T
NM_001407990.1:c.787+1083G>T
NM_001407991.1:c.784+1083G>T
NM_001407992.1:c.784+1083G>T
NM_001407993.1:c.787+1083G>T
NM_001408392.1:c.784+1083G>T
NM_001408396.1:c.784+1083G>T
NM_001408397.1:c.784+1083G>T
NM_001408398.1:c.784+1083G>T
NM_001408399.1:c.784+1083G>T
NM_001408400.1:c.784+1083G>T
NM_001408401.1:c.784+1083G>T
NM_001408402.1:c.784+1083G>T
NM_001408403.1:c.787+1083G>T
NM_001408404.1:c.787+1083G>T
NM_001408406.1:c.790+1080G>T
NM_001408407.1:c.784+1083G>T
NM_001408408.1:c.778+1083G>T
NM_001408409.1:c.709+1083G>T
NM_001408410.1:c.646+1083G>T
NM_001408411.1:c.709+1083G>T
NM_001408412.1:c.709+1083G>T
NM_001408413.1:c.706+1083G>T
NM_001408414.1:c.709+1083G>T
NM_001408415.1:c.709+1083G>T
NM_001408416.1:c.706+1083G>T
NM_001408418.1:c.670+2185G>T
NM_001408419.1:c.670+2185G>T
NM_001408420.1:c.670+2185G>T
NM_001408421.1:c.667+2185G>T
NM_001408422.1:c.670+2185G>T
NM_001408423.1:c.670+2185G>T
NM_001408424.1:c.667+2185G>T
NM_001408425.1:c.664+1083G>T
NM_001408426.1:c.664+1083G>T
NM_001408427.1:c.664+1083G>T
NM_001408428.1:c.664+1083G>T
NM_001408429.1:c.664+1083G>T
NM_001408430.1:c.664+1083G>T
NM_001408431.1:c.667+2185G>T
NM_001408432.1:c.661+1083G>T
NM_001408433.1:c.661+1083G>T
NM_001408434.1:c.661+1083G>T
NM_001408435.1:c.661+1083G>T
NM_001408436.1:c.664+1083G>T
NM_001408437.1:c.664+1083G>T
NM_001408438.1:c.664+1083G>T
NM_001408439.1:c.664+1083G>T
NM_001408440.1:c.664+1083G>T
NM_001408441.1:c.664+1083G>T
NM_001408442.1:c.664+1083G>T
NM_001408443.1:c.664+1083G>T
NM_001408444.1:c.664+1083G>T
NM_001408445.1:c.661+1083G>T
NM_001408446.1:c.661+1083G>T
NM_001408447.1:c.661+1083G>T
NM_001408448.1:c.661+1083G>T
NM_001408450.1:c.661+1083G>T
NM_001408451.1:c.652+1083G>T
NM_001408452.1:c.646+1083G>T
NM_001408453.1:c.646+1083G>T
NM_001408454.1:c.646+1083G>T
NM_001408455.1:c.646+1083G>T
NM_001408456.1:c.646+1083G>T
NM_001408457.1:c.646+1083G>T
NM_001408458.1:c.646+1083G>T
NM_001408459.1:c.646+1083G>T
NM_001408460.1:c.646+1083G>T
NM_001408461.1:c.646+1083G>T
NM_001408462.1:c.643+1083G>T
NM_001408463.1:c.643+1083G>T
NM_001408464.1:c.643+1083G>T
NM_001408465.1:c.643+1083G>T
NM_001408466.1:c.646+1083G>T
NM_001408467.1:c.646+1083G>T
NM_001408468.1:c.643+1083G>T
NM_001408469.1:c.646+1083G>T
NM_001408470.1:c.643+1083G>T
NM_001408472.1:c.787+1083G>T
NM_001408473.1:c.784+1083G>T
NM_001408474.1:c.586+1083G>T
NM_001408475.1:c.583+1083G>T
NM_001408476.1:c.586+1083G>T
NM_001408478.1:c.577+1083G>T
NM_001408479.1:c.577+1083G>T
NM_001408480.1:c.577+1083G>T
NM_001408481.1:c.577+1083G>T
NM_001408482.1:c.577+1083G>T
NM_001408483.1:c.577+1083G>T
NM_001408484.1:c.577+1083G>T
NM_001408485.1:c.577+1083G>T
NM_001408489.1:c.577+1083G>T
NM_001408490.1:c.574+1083G>T
NM_001408491.1:c.574+1083G>T
NM_001408492.1:c.577+1083G>T
NM_001408493.1:c.574+1083G>T
NM_001408494.1:c.548-2629G>T
NM_001408495.1:c.545-2629G>T
NM_001408496.1:c.523+1083G>T
NM_001408497.1:c.523+1083G>T
NM_001408498.1:c.523+1083G>T
NM_001408499.1:c.523+1083G>T
NM_001408500.1:c.523+1083G>T
NM_001408501.1:c.523+1083G>T
NM_001408502.1:c.454+1083G>T
NM_001408503.1:c.520+1083G>T
NM_001408504.1:c.520+1083G>T
NM_001408505.1:c.520+1083G>T
NM_001408506.1:c.460+2185G>T
NM_001408507.1:c.460+2185G>T
NM_001408508.1:c.451+1083G>T
NM_001408509.1:c.451+1083G>T
NM_001408510.1:c.406+1083G>T
NM_001408511.1:c.404-2629G>T
NM_001408512.1:c.283+1083G>T
NM_001408513.1:c.577+1083G>T
NM_001408514.1:c.577+1083G>T
NM_007294.4:c.1870G>TMANE SELECT
NM_007297.4:c.1729G>T
NM_007298.4:c.787+1083G>T
NM_007299.4:c.787+1083G>T
NM_007300.4:c.1870G>T
NP_001394500.1:p.Glu553Ter
NP_001394510.1:p.Glu624Ter
NP_001394511.1:p.Glu624Ter
NP_001394512.1:p.Glu624Ter
NP_001394514.1:p.Glu624Ter
NP_001394516.1:p.Glu623Ter
NP_001394519.1:p.Glu623Ter
NP_001394520.1:p.Glu623Ter
NP_001394522.1:p.Glu624Ter
NP_001394523.1:p.Glu624Ter
NP_001394525.1:p.Glu624Ter
NP_001394526.1:p.Glu624Ter
NP_001394527.1:p.Glu624Ter
NP_001394531.1:p.Glu624Ter
NP_001394532.1:p.Glu624Ter
NP_001394534.1:p.Glu624Ter
NP_001394539.1:p.Glu623Ter
NP_001394540.1:p.Glu623Ter
NP_001394541.1:p.Glu623Ter
NP_001394542.1:p.Glu623Ter
NP_001394543.1:p.Glu623Ter
NP_001394544.1:p.Glu623Ter
NP_001394545.1:p.Glu624Ter
NP_001394546.1:p.Glu624Ter
NP_001394547.1:p.Glu624Ter
NP_001394548.1:p.Glu624Ter
NP_001394549.1:p.Glu624Ter
NP_001394550.1:p.Glu624Ter
NP_001394551.1:p.Glu624Ter
NP_001394552.1:p.Glu624Ter
NP_001394553.1:p.Glu624Ter
NP_001394554.1:p.Glu624Ter
NP_001394555.1:p.Glu624Ter
NP_001394556.1:p.Glu623Ter
NP_001394557.1:p.Glu623Ter
NP_001394558.1:p.Glu623Ter
NP_001394559.1:p.Glu623Ter
NP_001394560.1:p.Glu623Ter
NP_001394561.1:p.Glu623Ter
NP_001394562.1:p.Glu623Ter
NP_001394563.1:p.Glu623Ter
NP_001394564.1:p.Glu623Ter
NP_001394565.1:p.Glu623Ter
NP_001394566.1:p.Glu623Ter
NP_001394567.1:p.Glu623Ter
NP_001394568.1:p.Glu624Ter
NP_001394569.1:p.Glu624Ter
NP_001394570.1:p.Glu624Ter
NP_001394571.1:p.Glu624Ter
NP_001394573.1:p.Glu623Ter
NP_001394574.1:p.Glu623Ter
NP_001394575.1:p.Glu621Ter
NP_001394576.1:p.Glu621Ter
NP_001394577.1:p.Glu583Ter
NP_001394578.1:p.Glu582Ter
NP_001394581.1:p.Glu624Ter
NP_001394582.1:p.Glu598Ter
NP_001394583.1:p.Glu598Ter
NP_001394584.1:p.Glu598Ter
NP_001394585.1:p.Glu598Ter
NP_001394586.1:p.Glu598Ter
NP_001394587.1:p.Glu598Ter
NP_001394588.1:p.Glu597Ter
NP_001394589.1:p.Glu597Ter
NP_001394590.1:p.Glu597Ter
NP_001394591.1:p.Glu597Ter
NP_001394592.1:p.Glu598Ter
NP_001394593.1:p.Glu583Ter
NP_001394594.1:p.Glu583Ter
NP_001394595.1:p.Glu583Ter
NP_001394596.1:p.Glu583Ter
NP_001394597.1:p.Glu583Ter
NP_001394598.1:p.Glu583Ter
NP_001394599.1:p.Glu582Ter
NP_001394600.1:p.Glu582Ter
NP_001394601.1:p.Glu582Ter
NP_001394602.1:p.Glu582Ter
NP_001394603.1:p.Glu583Ter
NP_001394604.1:p.Glu583Ter
NP_001394605.1:p.Glu583Ter
NP_001394606.1:p.Glu583Ter
NP_001394607.1:p.Glu583Ter
NP_001394608.1:p.Glu583Ter
NP_001394609.1:p.Glu583Ter
NP_001394610.1:p.Glu583Ter
NP_001394611.1:p.Glu583Ter
NP_001394612.1:p.Glu583Ter
NP_001394613.1:p.Glu624Ter
NP_001394614.1:p.Glu582Ter
NP_001394615.1:p.Glu582Ter
NP_001394616.1:p.Glu582Ter
NP_001394617.1:p.Glu582Ter
NP_001394618.1:p.Glu582Ter
NP_001394619.1:p.Glu582Ter
NP_001394620.1:p.Glu582Ter
NP_001394621.1:p.Glu577Ter
NP_001394623.1:p.Glu577Ter
NP_001394624.1:p.Glu577Ter
NP_001394625.1:p.Glu577Ter
NP_001394626.1:p.Glu577Ter
NP_001394627.1:p.Glu577Ter
NP_001394653.1:p.Glu577Ter
NP_001394654.1:p.Glu577Ter
NP_001394655.1:p.Glu577Ter
NP_001394656.1:p.Glu577Ter
NP_001394657.1:p.Glu577Ter
NP_001394658.1:p.Glu577Ter
NP_001394659.1:p.Glu577Ter
NP_001394660.1:p.Glu577Ter
NP_001394661.1:p.Glu577Ter
NP_001394662.1:p.Glu577Ter
NP_001394663.1:p.Glu577Ter
NP_001394664.1:p.Glu577Ter
NP_001394665.1:p.Glu577Ter
NP_001394666.1:p.Glu577Ter
NP_001394667.1:p.Glu577Ter
NP_001394668.1:p.Glu577Ter
NP_001394669.1:p.Glu576Ter
NP_001394670.1:p.Glu576Ter
NP_001394671.1:p.Glu576Ter
NP_001394672.1:p.Glu576Ter
NP_001394673.1:p.Glu576Ter
NP_001394674.1:p.Glu576Ter
NP_001394675.1:p.Glu576Ter
NP_001394676.1:p.Glu576Ter
NP_001394677.1:p.Glu576Ter
NP_001394678.1:p.Glu576Ter
NP_001394679.1:p.Glu577Ter
NP_001394680.1:p.Glu577Ter
NP_001394681.1:p.Glu577Ter
NP_001394767.1:p.Glu576Ter
NP_001394768.1:p.Glu576Ter
NP_001394770.1:p.Glu576Ter
NP_001394771.1:p.Glu576Ter
NP_001394772.1:p.Glu576Ter
NP_001394773.1:p.Glu576Ter
NP_001394774.1:p.Glu576Ter
NP_001394775.1:p.Glu576Ter
NP_001394776.1:p.Glu576Ter
NP_001394777.1:p.Glu576Ter
NP_001394778.1:p.Glu576Ter
NP_001394779.1:p.Glu577Ter
NP_001394780.1:p.Glu577Ter
NP_001394781.1:p.Glu577Ter
NP_001394782.1:p.Glu553Ter
NP_001394783.1:p.Glu624Ter
NP_001394787.1:p.Glu624Ter
NP_001394788.1:p.Glu624Ter
NP_001394789.1:p.Glu623Ter
NP_001394790.1:p.Glu623Ter
NP_001394791.1:p.Glu557Ter
NP_001394792.1:p.Glu583Ter
NP_001394803.1:p.Glu556Ter
NP_001394804.1:p.Glu556Ter
NP_001394808.1:p.Glu554Ter
NP_001394810.1:p.Glu554Ter
NP_001394811.1:p.Glu554Ter
NP_001394813.1:p.Glu554Ter
NP_001394814.1:p.Glu554Ter
NP_001394815.1:p.Glu554Ter
NP_001394816.1:p.Glu554Ter
NP_001394818.1:p.Glu554Ter
NP_001394823.1:p.Glu553Ter
NP_001394824.1:p.Glu553Ter
NP_001394825.1:p.Glu553Ter
NP_001394826.1:p.Glu553Ter
NP_001394827.1:p.Glu553Ter
NP_001394828.1:p.Glu553Ter
NP_001394829.1:p.Glu554Ter
NP_001394831.1:p.Glu554Ter
NP_001394833.1:p.Glu554Ter
NP_001394835.1:p.Glu554Ter
NP_001394836.1:p.Glu554Ter
NP_001394837.1:p.Glu554Ter
NP_001394838.1:p.Glu554Ter
NP_001394839.1:p.Glu554Ter
NP_001394844.1:p.Glu553Ter
NP_001394845.1:p.Glu553Ter
NP_001394846.1:p.Glu553Ter
NP_001394847.1:p.Glu553Ter
NP_001394848.1:p.Glu583Ter
NP_001394849.1:p.Glu536Ter
NP_001394850.1:p.Glu536Ter
NP_001394851.1:p.Glu536Ter
NP_001394852.1:p.Glu536Ter
NP_001394853.1:p.Glu536Ter
NP_001394854.1:p.Glu536Ter
NP_001394855.1:p.Glu536Ter
NP_001394856.1:p.Glu536Ter
NP_001394857.1:p.Glu536Ter
NP_001394858.1:p.Glu536Ter
NP_001394859.1:p.Glu535Ter
NP_001394860.1:p.Glu535Ter
NP_001394861.1:p.Glu535Ter
NP_001394862.1:p.Glu536Ter
NP_001394863.1:p.Glu535Ter
NP_001394864.1:p.Glu536Ter
NP_001394865.1:p.Glu535Ter
NP_001394866.1:p.Glu583Ter
NP_001394867.1:p.Glu583Ter
NP_001394868.1:p.Glu583Ter
NP_001394869.1:p.Glu582Ter
NP_001394870.1:p.Glu582Ter
NP_001394871.1:p.Glu577Ter
NP_001394872.1:p.Glu576Ter
NP_001394873.1:p.Glu577Ter
NP_001394874.1:p.Glu577Ter
NP_001394875.1:p.Glu513Ter
NP_001394876.1:p.Glu513Ter
NP_001394877.1:p.Glu513Ter
NP_001394878.1:p.Glu513Ter
NP_001394879.1:p.Glu513Ter
NP_001394880.1:p.Glu513Ter
NP_001394881.1:p.Glu513Ter
NP_001394882.1:p.Glu513Ter
NP_001394883.1:p.Glu512Ter
NP_001394884.1:p.Glu512Ter
NP_001394885.1:p.Glu512Ter
NP_001394886.1:p.Glu513Ter
NP_001394887.1:p.Glu512Ter
NP_001394888.1:p.Glu497Ter
NP_001394889.1:p.Glu497Ter
NP_001394891.1:p.Glu496Ter
NP_001394892.1:p.Glu497Ter
NP_001394893.1:p.Glu576Ter
NP_001394894.1:p.Glu456Ter
NP_001394895.1:p.Glu328Ter
NP_001394896.1:p.Glu328Ter
NP_009225.1:p.Glu624Ter
NP_009225.1:p.Glu624Ter
NP_009228.2:p.Glu577Ter
NP_009231.2:p.Glu624Ter
LRG_292t1:c.1870G>T
LRG_292:g.124323G>T
LRG_292p1:p.Glu624Ter
NC_000017.10:g.41245678C>A
NM_007294.3:c.1870G>T
NR_027676.1:n.2006G>T
U14680.1:n.1989G>T

Protein change:

E328*

Links:

dbSNP: rs80356950

NCBI 1000 Genomes Browser:

rs80356950

Molecular consequence:

NM_001407968.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+1080G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+2185G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+2185G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+2185G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+2185G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+2185G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+2185G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+2185G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+2185G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-2629G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-2629G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+2185G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+2185G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-2629G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+1083G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.1657G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.1861G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.1861G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.1744G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.1792G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.1792G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.1792G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.1792G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.1792G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.1792G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.1789G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.1789G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.1789G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.1789G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.1792G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.1744G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.1744G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.1744G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.1744G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.1744G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.1744G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.1744G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.1744G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.1744G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.1744G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.1744G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.1657G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.1867G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.1669G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.1666G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.1666G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.1660G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.1660G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.1660G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.1660G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.1660G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.1660G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.1660G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.1660G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.1657G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.1657G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.1657G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.1657G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.1657G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.1657G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.1660G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.1660G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.1660G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.1660G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.1660G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.1660G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.1660G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.1660G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.1657G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.1657G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.1657G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.1657G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.1606G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.1606G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.1606G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.1606G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.1606G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.1606G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.1606G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.1606G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.1606G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.1606G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.1603G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.1603G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.1603G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.1606G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.1603G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.1606G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.1603G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.1747G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.1744G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.1744G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.1537G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.1537G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.1537G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.1537G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.1537G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.1537G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.1537G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.1537G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.1534G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.1534G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.1534G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.1537G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.1534G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.1489G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.1489G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.1486G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.1489G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.1726G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.1366G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.982G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.982G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.1729G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.1870G>T - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002723199	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 21, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV004361046	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 26, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002723199

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 21, 2021)

germline

clinical testing

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

Citation Link,

SCV004361046

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 26, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]

PMID:: 29446198
PMCID:: PMC5903938

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 Ambry Genetics, SCV002723199.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The p.E624* pathogenic mutation (also known as c.1870G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 1870. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Color Diagnostics, LLC DBA Color Health, SCV004361046.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine