ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile)
Variation ID: 54985 Accession: VCV000054985.27
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091792 (GRCh38) [ NCBI UCSC ] 17: 41243809 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 May 1, 2024 Aug 10, 2015 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3739G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1247Ile missense NM_001407571.1:c.3526G>A NP_001394500.1:p.Val1176Ile missense NM_001407581.1:c.3739G>A NP_001394510.1:p.Val1247Ile missense NM_001407582.1:c.3739G>A NP_001394511.1:p.Val1247Ile missense NM_001407583.1:c.3739G>A NP_001394512.1:p.Val1247Ile missense NM_001407585.1:c.3739G>A NP_001394514.1:p.Val1247Ile missense NM_001407587.1:c.3736G>A NP_001394516.1:p.Val1246Ile missense NM_001407590.1:c.3736G>A NP_001394519.1:p.Val1246Ile missense NM_001407591.1:c.3736G>A NP_001394520.1:p.Val1246Ile missense NM_001407593.1:c.3739G>A NP_001394522.1:p.Val1247Ile missense NM_001407594.1:c.3739G>A NP_001394523.1:p.Val1247Ile missense NM_001407596.1:c.3739G>A NP_001394525.1:p.Val1247Ile missense NM_001407597.1:c.3739G>A NP_001394526.1:p.Val1247Ile missense NM_001407598.1:c.3739G>A NP_001394527.1:p.Val1247Ile missense NM_001407602.1:c.3739G>A NP_001394531.1:p.Val1247Ile missense NM_001407603.1:c.3739G>A NP_001394532.1:p.Val1247Ile missense NM_001407605.1:c.3739G>A NP_001394534.1:p.Val1247Ile missense NM_001407610.1:c.3736G>A NP_001394539.1:p.Val1246Ile missense NM_001407611.1:c.3736G>A NP_001394540.1:p.Val1246Ile missense NM_001407612.1:c.3736G>A NP_001394541.1:p.Val1246Ile missense NM_001407613.1:c.3736G>A NP_001394542.1:p.Val1246Ile missense NM_001407614.1:c.3736G>A NP_001394543.1:p.Val1246Ile missense NM_001407615.1:c.3736G>A NP_001394544.1:p.Val1246Ile missense NM_001407616.1:c.3739G>A NP_001394545.1:p.Val1247Ile missense NM_001407617.1:c.3739G>A NP_001394546.1:p.Val1247Ile missense NM_001407618.1:c.3739G>A NP_001394547.1:p.Val1247Ile missense NM_001407619.1:c.3739G>A NP_001394548.1:p.Val1247Ile missense NM_001407620.1:c.3739G>A NP_001394549.1:p.Val1247Ile missense NM_001407621.1:c.3739G>A NP_001394550.1:p.Val1247Ile missense NM_001407622.1:c.3739G>A NP_001394551.1:p.Val1247Ile missense NM_001407623.1:c.3739G>A NP_001394552.1:p.Val1247Ile missense NM_001407624.1:c.3739G>A NP_001394553.1:p.Val1247Ile missense NM_001407625.1:c.3739G>A NP_001394554.1:p.Val1247Ile missense NM_001407626.1:c.3739G>A NP_001394555.1:p.Val1247Ile missense NM_001407627.1:c.3736G>A NP_001394556.1:p.Val1246Ile missense NM_001407628.1:c.3736G>A NP_001394557.1:p.Val1246Ile missense NM_001407629.1:c.3736G>A NP_001394558.1:p.Val1246Ile missense NM_001407630.1:c.3736G>A NP_001394559.1:p.Val1246Ile missense NM_001407631.1:c.3736G>A NP_001394560.1:p.Val1246Ile missense NM_001407632.1:c.3736G>A NP_001394561.1:p.Val1246Ile missense NM_001407633.1:c.3736G>A NP_001394562.1:p.Val1246Ile missense NM_001407634.1:c.3736G>A NP_001394563.1:p.Val1246Ile missense NM_001407635.1:c.3736G>A NP_001394564.1:p.Val1246Ile missense NM_001407636.1:c.3736G>A NP_001394565.1:p.Val1246Ile missense NM_001407637.1:c.3736G>A NP_001394566.1:p.Val1246Ile missense NM_001407638.1:c.3736G>A NP_001394567.1:p.Val1246Ile missense NM_001407639.1:c.3739G>A NP_001394568.1:p.Val1247Ile missense NM_001407640.1:c.3739G>A NP_001394569.1:p.Val1247Ile missense NM_001407641.1:c.3739G>A NP_001394570.1:p.Val1247Ile missense NM_001407642.1:c.3739G>A NP_001394571.1:p.Val1247Ile missense NM_001407644.1:c.3736G>A NP_001394573.1:p.Val1246Ile missense NM_001407645.1:c.3736G>A NP_001394574.1:p.Val1246Ile missense NM_001407646.1:c.3730G>A NP_001394575.1:p.Val1244Ile missense NM_001407647.1:c.3730G>A NP_001394576.1:p.Val1244Ile missense NM_001407648.1:c.3616G>A NP_001394577.1:p.Val1206Ile missense NM_001407649.1:c.3613G>A NP_001394578.1:p.Val1205Ile missense NM_001407652.1:c.3739G>A NP_001394581.1:p.Val1247Ile missense NM_001407653.1:c.3661G>A NP_001394582.1:p.Val1221Ile missense NM_001407654.1:c.3661G>A NP_001394583.1:p.Val1221Ile missense NM_001407655.1:c.3661G>A NP_001394584.1:p.Val1221Ile missense NM_001407656.1:c.3661G>A NP_001394585.1:p.Val1221Ile missense NM_001407657.1:c.3661G>A NP_001394586.1:p.Val1221Ile missense NM_001407658.1:c.3661G>A NP_001394587.1:p.Val1221Ile missense NM_001407659.1:c.3658G>A NP_001394588.1:p.Val1220Ile missense NM_001407660.1:c.3658G>A NP_001394589.1:p.Val1220Ile missense NM_001407661.1:c.3658G>A NP_001394590.1:p.Val1220Ile missense NM_001407662.1:c.3658G>A NP_001394591.1:p.Val1220Ile missense NM_001407663.1:c.3661G>A NP_001394592.1:p.Val1221Ile missense NM_001407664.1:c.3616G>A NP_001394593.1:p.Val1206Ile missense NM_001407665.1:c.3616G>A NP_001394594.1:p.Val1206Ile missense NM_001407666.1:c.3616G>A NP_001394595.1:p.Val1206Ile missense NM_001407667.1:c.3616G>A NP_001394596.1:p.Val1206Ile missense NM_001407668.1:c.3616G>A NP_001394597.1:p.Val1206Ile missense NM_001407669.1:c.3616G>A NP_001394598.1:p.Val1206Ile missense NM_001407670.1:c.3613G>A NP_001394599.1:p.Val1205Ile missense NM_001407671.1:c.3613G>A NP_001394600.1:p.Val1205Ile missense NM_001407672.1:c.3613G>A NP_001394601.1:p.Val1205Ile missense NM_001407673.1:c.3613G>A NP_001394602.1:p.Val1205Ile missense NM_001407674.1:c.3616G>A NP_001394603.1:p.Val1206Ile missense NM_001407675.1:c.3616G>A NP_001394604.1:p.Val1206Ile missense NM_001407676.1:c.3616G>A NP_001394605.1:p.Val1206Ile missense NM_001407677.1:c.3616G>A NP_001394606.1:p.Val1206Ile missense NM_001407678.1:c.3616G>A NP_001394607.1:p.Val1206Ile missense NM_001407679.1:c.3616G>A NP_001394608.1:p.Val1206Ile missense NM_001407680.1:c.3616G>A NP_001394609.1:p.Val1206Ile missense NM_001407681.1:c.3616G>A NP_001394610.1:p.Val1206Ile missense NM_001407682.1:c.3616G>A NP_001394611.1:p.Val1206Ile missense NM_001407683.1:c.3616G>A NP_001394612.1:p.Val1206Ile missense NM_001407684.1:c.3739G>A NP_001394613.1:p.Val1247Ile missense NM_001407685.1:c.3613G>A NP_001394614.1:p.Val1205Ile missense NM_001407686.1:c.3613G>A NP_001394615.1:p.Val1205Ile missense NM_001407687.1:c.3613G>A NP_001394616.1:p.Val1205Ile missense NM_001407688.1:c.3613G>A NP_001394617.1:p.Val1205Ile missense NM_001407689.1:c.3613G>A NP_001394618.1:p.Val1205Ile missense NM_001407690.1:c.3613G>A NP_001394619.1:p.Val1205Ile missense NM_001407691.1:c.3613G>A NP_001394620.1:p.Val1205Ile missense NM_001407692.1:c.3598G>A NP_001394621.1:p.Val1200Ile missense NM_001407694.1:c.3598G>A NP_001394623.1:p.Val1200Ile missense NM_001407695.1:c.3598G>A NP_001394624.1:p.Val1200Ile missense NM_001407696.1:c.3598G>A NP_001394625.1:p.Val1200Ile missense NM_001407697.1:c.3598G>A NP_001394626.1:p.Val1200Ile missense NM_001407698.1:c.3598G>A NP_001394627.1:p.Val1200Ile missense NM_001407724.1:c.3598G>A NP_001394653.1:p.Val1200Ile missense NM_001407725.1:c.3598G>A NP_001394654.1:p.Val1200Ile missense NM_001407726.1:c.3598G>A NP_001394655.1:p.Val1200Ile missense NM_001407727.1:c.3598G>A NP_001394656.1:p.Val1200Ile missense NM_001407728.1:c.3598G>A NP_001394657.1:p.Val1200Ile missense NM_001407729.1:c.3598G>A NP_001394658.1:p.Val1200Ile missense NM_001407730.1:c.3598G>A NP_001394659.1:p.Val1200Ile missense NM_001407731.1:c.3598G>A NP_001394660.1:p.Val1200Ile missense NM_001407732.1:c.3598G>A NP_001394661.1:p.Val1200Ile missense NM_001407733.1:c.3598G>A NP_001394662.1:p.Val1200Ile missense NM_001407734.1:c.3598G>A NP_001394663.1:p.Val1200Ile missense NM_001407735.1:c.3598G>A NP_001394664.1:p.Val1200Ile missense NM_001407736.1:c.3598G>A NP_001394665.1:p.Val1200Ile missense NM_001407737.1:c.3598G>A NP_001394666.1:p.Val1200Ile missense NM_001407738.1:c.3598G>A NP_001394667.1:p.Val1200Ile missense NM_001407739.1:c.3598G>A NP_001394668.1:p.Val1200Ile missense NM_001407740.1:c.3595G>A NP_001394669.1:p.Val1199Ile missense NM_001407741.1:c.3595G>A NP_001394670.1:p.Val1199Ile missense NM_001407742.1:c.3595G>A NP_001394671.1:p.Val1199Ile missense NM_001407743.1:c.3595G>A NP_001394672.1:p.Val1199Ile missense NM_001407744.1:c.3595G>A NP_001394673.1:p.Val1199Ile missense NM_001407745.1:c.3595G>A NP_001394674.1:p.Val1199Ile missense NM_001407746.1:c.3595G>A NP_001394675.1:p.Val1199Ile missense NM_001407747.1:c.3595G>A NP_001394676.1:p.Val1199Ile missense NM_001407748.1:c.3595G>A NP_001394677.1:p.Val1199Ile missense NM_001407749.1:c.3595G>A NP_001394678.1:p.Val1199Ile missense NM_001407750.1:c.3598G>A NP_001394679.1:p.Val1200Ile missense NM_001407751.1:c.3598G>A NP_001394680.1:p.Val1200Ile missense NM_001407752.1:c.3598G>A NP_001394681.1:p.Val1200Ile missense NM_001407838.1:c.3595G>A NP_001394767.1:p.Val1199Ile missense NM_001407839.1:c.3595G>A NP_001394768.1:p.Val1199Ile missense NM_001407841.1:c.3595G>A NP_001394770.1:p.Val1199Ile missense NM_001407842.1:c.3595G>A NP_001394771.1:p.Val1199Ile missense NM_001407843.1:c.3595G>A NP_001394772.1:p.Val1199Ile missense NM_001407844.1:c.3595G>A NP_001394773.1:p.Val1199Ile missense NM_001407845.1:c.3595G>A NP_001394774.1:p.Val1199Ile missense NM_001407846.1:c.3595G>A NP_001394775.1:p.Val1199Ile missense NM_001407847.1:c.3595G>A NP_001394776.1:p.Val1199Ile missense NM_001407848.1:c.3595G>A NP_001394777.1:p.Val1199Ile missense NM_001407849.1:c.3595G>A NP_001394778.1:p.Val1199Ile missense NM_001407850.1:c.3598G>A NP_001394779.1:p.Val1200Ile missense NM_001407851.1:c.3598G>A NP_001394780.1:p.Val1200Ile missense NM_001407852.1:c.3598G>A NP_001394781.1:p.Val1200Ile missense NM_001407853.1:c.3526G>A NP_001394782.1:p.Val1176Ile missense NM_001407854.1:c.3739G>A NP_001394783.1:p.Val1247Ile missense NM_001407858.1:c.3739G>A NP_001394787.1:p.Val1247Ile missense NM_001407859.1:c.3739G>A NP_001394788.1:p.Val1247Ile missense NM_001407860.1:c.3736G>A NP_001394789.1:p.Val1246Ile missense NM_001407861.1:c.3736G>A NP_001394790.1:p.Val1246Ile missense NM_001407862.1:c.3538G>A NP_001394791.1:p.Val1180Ile missense NM_001407863.1:c.3616G>A NP_001394792.1:p.Val1206Ile missense NM_001407874.1:c.3535G>A NP_001394803.1:p.Val1179Ile missense NM_001407875.1:c.3535G>A NP_001394804.1:p.Val1179Ile missense NM_001407879.1:c.3529G>A NP_001394808.1:p.Val1177Ile missense NM_001407881.1:c.3529G>A NP_001394810.1:p.Val1177Ile missense NM_001407882.1:c.3529G>A NP_001394811.1:p.Val1177Ile missense NM_001407884.1:c.3529G>A NP_001394813.1:p.Val1177Ile missense NM_001407885.1:c.3529G>A NP_001394814.1:p.Val1177Ile missense NM_001407886.1:c.3529G>A NP_001394815.1:p.Val1177Ile missense NM_001407887.1:c.3529G>A NP_001394816.1:p.Val1177Ile missense NM_001407889.1:c.3529G>A NP_001394818.1:p.Val1177Ile missense NM_001407894.1:c.3526G>A NP_001394823.1:p.Val1176Ile missense NM_001407895.1:c.3526G>A NP_001394824.1:p.Val1176Ile missense NM_001407896.1:c.3526G>A NP_001394825.1:p.Val1176Ile missense NM_001407897.1:c.3526G>A NP_001394826.1:p.Val1176Ile missense NM_001407898.1:c.3526G>A NP_001394827.1:p.Val1176Ile missense NM_001407899.1:c.3526G>A NP_001394828.1:p.Val1176Ile missense NM_001407900.1:c.3529G>A NP_001394829.1:p.Val1177Ile missense NM_001407902.1:c.3529G>A NP_001394831.1:p.Val1177Ile missense NM_001407904.1:c.3529G>A NP_001394833.1:p.Val1177Ile missense NM_001407906.1:c.3529G>A NP_001394835.1:p.Val1177Ile missense NM_001407907.1:c.3529G>A NP_001394836.1:p.Val1177Ile missense NM_001407908.1:c.3529G>A NP_001394837.1:p.Val1177Ile missense NM_001407909.1:c.3529G>A NP_001394838.1:p.Val1177Ile missense NM_001407910.1:c.3529G>A NP_001394839.1:p.Val1177Ile missense NM_001407915.1:c.3526G>A NP_001394844.1:p.Val1176Ile missense NM_001407916.1:c.3526G>A NP_001394845.1:p.Val1176Ile missense NM_001407917.1:c.3526G>A NP_001394846.1:p.Val1176Ile missense NM_001407918.1:c.3526G>A NP_001394847.1:p.Val1176Ile missense NM_001407919.1:c.3616G>A NP_001394848.1:p.Val1206Ile missense NM_001407920.1:c.3475G>A NP_001394849.1:p.Val1159Ile missense NM_001407921.1:c.3475G>A NP_001394850.1:p.Val1159Ile missense NM_001407922.1:c.3475G>A NP_001394851.1:p.Val1159Ile missense NM_001407923.1:c.3475G>A NP_001394852.1:p.Val1159Ile missense NM_001407924.1:c.3475G>A NP_001394853.1:p.Val1159Ile missense NM_001407925.1:c.3475G>A NP_001394854.1:p.Val1159Ile missense NM_001407926.1:c.3475G>A NP_001394855.1:p.Val1159Ile missense NM_001407927.1:c.3475G>A NP_001394856.1:p.Val1159Ile missense NM_001407928.1:c.3475G>A NP_001394857.1:p.Val1159Ile missense NM_001407929.1:c.3475G>A NP_001394858.1:p.Val1159Ile missense NM_001407930.1:c.3472G>A NP_001394859.1:p.Val1158Ile missense NM_001407931.1:c.3472G>A NP_001394860.1:p.Val1158Ile missense NM_001407932.1:c.3472G>A NP_001394861.1:p.Val1158Ile missense NM_001407933.1:c.3475G>A NP_001394862.1:p.Val1159Ile missense NM_001407934.1:c.3472G>A NP_001394863.1:p.Val1158Ile missense NM_001407935.1:c.3475G>A NP_001394864.1:p.Val1159Ile missense NM_001407936.1:c.3472G>A NP_001394865.1:p.Val1158Ile missense NM_001407937.1:c.3616G>A NP_001394866.1:p.Val1206Ile missense NM_001407938.1:c.3616G>A NP_001394867.1:p.Val1206Ile missense NM_001407939.1:c.3616G>A NP_001394868.1:p.Val1206Ile missense NM_001407940.1:c.3613G>A NP_001394869.1:p.Val1205Ile missense NM_001407941.1:c.3613G>A NP_001394870.1:p.Val1205Ile missense NM_001407942.1:c.3598G>A NP_001394871.1:p.Val1200Ile missense NM_001407943.1:c.3595G>A NP_001394872.1:p.Val1199Ile missense NM_001407944.1:c.3598G>A NP_001394873.1:p.Val1200Ile missense NM_001407945.1:c.3598G>A NP_001394874.1:p.Val1200Ile missense NM_001407946.1:c.3406G>A NP_001394875.1:p.Val1136Ile missense NM_001407947.1:c.3406G>A NP_001394876.1:p.Val1136Ile missense NM_001407948.1:c.3406G>A NP_001394877.1:p.Val1136Ile missense NM_001407949.1:c.3406G>A NP_001394878.1:p.Val1136Ile missense NM_001407950.1:c.3406G>A NP_001394879.1:p.Val1136Ile missense NM_001407951.1:c.3406G>A NP_001394880.1:p.Val1136Ile missense NM_001407952.1:c.3406G>A NP_001394881.1:p.Val1136Ile missense NM_001407953.1:c.3406G>A NP_001394882.1:p.Val1136Ile missense NM_001407954.1:c.3403G>A NP_001394883.1:p.Val1135Ile missense NM_001407955.1:c.3403G>A NP_001394884.1:p.Val1135Ile missense NM_001407956.1:c.3403G>A NP_001394885.1:p.Val1135Ile missense NM_001407957.1:c.3406G>A NP_001394886.1:p.Val1136Ile missense NM_001407958.1:c.3403G>A NP_001394887.1:p.Val1135Ile missense NM_001407959.1:c.3358G>A NP_001394888.1:p.Val1120Ile missense NM_001407960.1:c.3358G>A NP_001394889.1:p.Val1120Ile missense NM_001407962.1:c.3355G>A NP_001394891.1:p.Val1119Ile missense NM_001407963.1:c.3358G>A NP_001394892.1:p.Val1120Ile missense NM_001407964.1:c.3595G>A NP_001394893.1:p.Val1199Ile missense NM_001407965.1:c.3235G>A NP_001394894.1:p.Val1079Ile missense NM_001407966.1:c.2851G>A NP_001394895.1:p.Val951Ile missense NM_001407967.1:c.2851G>A NP_001394896.1:p.Val951Ile missense NM_001407968.1:c.1135G>A NP_001394897.1:p.Val379Ile missense NM_001407969.1:c.1135G>A NP_001394898.1:p.Val379Ile missense NM_001407970.1:c.788-760G>A intron variant NM_001407971.1:c.788-760G>A intron variant NM_001407972.1:c.785-760G>A intron variant NM_001407973.1:c.788-760G>A intron variant NM_001407974.1:c.788-760G>A intron variant NM_001407975.1:c.788-760G>A intron variant NM_001407976.1:c.788-760G>A intron variant NM_001407977.1:c.788-760G>A intron variant NM_001407978.1:c.788-760G>A intron variant NM_001407979.1:c.788-760G>A intron variant NM_001407980.1:c.788-760G>A intron variant NM_001407981.1:c.788-760G>A intron variant NM_001407982.1:c.788-760G>A intron variant NM_001407983.1:c.788-760G>A intron variant NM_001407984.1:c.785-760G>A intron variant NM_001407985.1:c.785-760G>A intron variant NM_001407986.1:c.785-760G>A intron variant NM_001407990.1:c.788-760G>A intron variant NM_001407991.1:c.785-760G>A intron variant NM_001407992.1:c.785-760G>A intron variant NM_001407993.1:c.788-760G>A intron variant NM_001408392.1:c.785-760G>A intron variant NM_001408396.1:c.785-760G>A intron variant NM_001408397.1:c.785-760G>A intron variant NM_001408398.1:c.785-760G>A intron variant NM_001408399.1:c.785-760G>A intron variant NM_001408400.1:c.785-760G>A intron variant NM_001408401.1:c.785-760G>A intron variant NM_001408402.1:c.785-760G>A intron variant NM_001408403.1:c.788-760G>A intron variant NM_001408404.1:c.788-760G>A intron variant NM_001408406.1:c.791-769G>A intron variant NM_001408407.1:c.785-760G>A intron variant NM_001408408.1:c.779-760G>A intron variant NM_001408409.1:c.710-760G>A intron variant NM_001408410.1:c.647-760G>A intron variant NM_001408411.1:c.710-760G>A intron variant NM_001408412.1:c.710-760G>A intron variant NM_001408413.1:c.707-760G>A intron variant NM_001408414.1:c.710-760G>A intron variant NM_001408415.1:c.710-760G>A intron variant NM_001408416.1:c.707-760G>A intron variant NM_001408418.1:c.671-760G>A intron variant NM_001408419.1:c.671-760G>A intron variant NM_001408420.1:c.671-760G>A intron variant NM_001408421.1:c.668-760G>A intron variant NM_001408422.1:c.671-760G>A intron variant NM_001408423.1:c.671-760G>A intron variant NM_001408424.1:c.668-760G>A intron variant NM_001408425.1:c.665-760G>A intron variant NM_001408426.1:c.665-760G>A intron variant NM_001408427.1:c.665-760G>A intron variant NM_001408428.1:c.665-760G>A intron variant NM_001408429.1:c.665-760G>A intron variant NM_001408430.1:c.665-760G>A intron variant NM_001408431.1:c.668-760G>A intron variant NM_001408432.1:c.662-760G>A intron variant NM_001408433.1:c.662-760G>A intron variant NM_001408434.1:c.662-760G>A intron variant NM_001408435.1:c.662-760G>A intron variant NM_001408436.1:c.665-760G>A intron variant NM_001408437.1:c.665-760G>A intron variant NM_001408438.1:c.665-760G>A intron variant NM_001408439.1:c.665-760G>A intron variant NM_001408440.1:c.665-760G>A intron variant NM_001408441.1:c.665-760G>A intron variant NM_001408442.1:c.665-760G>A intron variant NM_001408443.1:c.665-760G>A intron variant NM_001408444.1:c.665-760G>A intron variant NM_001408445.1:c.662-760G>A intron variant NM_001408446.1:c.662-760G>A intron variant NM_001408447.1:c.662-760G>A intron variant NM_001408448.1:c.662-760G>A intron variant NM_001408450.1:c.662-760G>A intron variant NM_001408451.1:c.653-760G>A intron variant NM_001408452.1:c.647-760G>A intron variant NM_001408453.1:c.647-760G>A intron variant NM_001408454.1:c.647-760G>A intron variant NM_001408455.1:c.647-760G>A intron variant NM_001408456.1:c.647-760G>A intron variant NM_001408457.1:c.647-760G>A intron variant NM_001408458.1:c.647-760G>A intron variant NM_001408459.1:c.647-760G>A intron variant NM_001408460.1:c.647-760G>A intron variant NM_001408461.1:c.647-760G>A intron variant NM_001408462.1:c.644-760G>A intron variant NM_001408463.1:c.644-760G>A intron variant NM_001408464.1:c.644-760G>A intron variant NM_001408465.1:c.644-760G>A intron variant NM_001408466.1:c.647-760G>A intron variant NM_001408467.1:c.647-760G>A intron variant NM_001408468.1:c.644-760G>A intron variant NM_001408469.1:c.647-760G>A intron variant NM_001408470.1:c.644-760G>A intron variant NM_001408472.1:c.788-760G>A intron variant NM_001408473.1:c.785-760G>A intron variant NM_001408474.1:c.587-760G>A intron variant NM_001408475.1:c.584-760G>A intron variant NM_001408476.1:c.587-760G>A intron variant NM_001408478.1:c.578-760G>A intron variant NM_001408479.1:c.578-760G>A intron variant NM_001408480.1:c.578-760G>A intron variant NM_001408481.1:c.578-760G>A intron variant NM_001408482.1:c.578-760G>A intron variant NM_001408483.1:c.578-760G>A intron variant NM_001408484.1:c.578-760G>A intron variant NM_001408485.1:c.578-760G>A intron variant NM_001408489.1:c.578-760G>A intron variant NM_001408490.1:c.575-760G>A intron variant NM_001408491.1:c.575-760G>A intron variant NM_001408492.1:c.578-760G>A intron variant NM_001408493.1:c.575-760G>A intron variant NM_001408494.1:c.548-760G>A intron variant NM_001408495.1:c.545-760G>A intron variant NM_001408496.1:c.524-760G>A intron variant NM_001408497.1:c.524-760G>A intron variant NM_001408498.1:c.524-760G>A intron variant NM_001408499.1:c.524-760G>A intron variant NM_001408500.1:c.524-760G>A intron variant NM_001408501.1:c.524-760G>A intron variant NM_001408502.1:c.455-760G>A intron variant NM_001408503.1:c.521-760G>A intron variant NM_001408504.1:c.521-760G>A intron variant NM_001408505.1:c.521-760G>A intron variant NM_001408506.1:c.461-760G>A intron variant NM_001408507.1:c.461-760G>A intron variant NM_001408508.1:c.452-760G>A intron variant NM_001408509.1:c.452-760G>A intron variant NM_001408510.1:c.407-760G>A intron variant NM_001408511.1:c.404-760G>A intron variant NM_001408512.1:c.284-760G>A intron variant NM_001408513.1:c.578-760G>A intron variant NM_001408514.1:c.578-760G>A intron variant NM_007297.4:c.3598G>A NP_009228.2:p.Val1200Ile missense NM_007298.4:c.788-760G>A intron variant NM_007299.4:c.788-760G>A intron variant NM_007300.4:c.3739G>A NP_009231.2:p.Val1247Ile missense NR_027676.1:n.3875G>A NC_000017.11:g.43091792C>T NC_000017.10:g.41243809C>T NG_005905.2:g.126192G>A NG_087068.1:g.774C>T LRG_292:g.126192G>A LRG_292t1:c.3739G>A LRG_292p1:p.Val1247Ile U14680.1:n.3858G>A - Protein change
- V1247I, V1200I, V1119I, V1136I, V1179I, V1220I, V1221I, V1158I, V1176I, V1177I, V1180I, V1206I, V1246I, V1079I, V1199I, V1205I, V379I, V1120I, V1135I, V1159I, V1244I, V951I
- Other names
- p.V1247I:GTT>ATT
- 3858G>A
- Canonical SPDI
- NC_000017.11:43091791:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
0.00060 (T)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00009
Trans-Omics for Precision Medicine (TOPMed) 0.00009
The Genome Aggregation Database (gnomAD), exomes 0.00010
1000 Genomes Project 0.00060
1000 Genomes Project 30x 0.00094
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12940 | 14730 | |
LOC126862571 | - | - | - | GRCh38 | - | 1638 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Benign (5) |
criteria provided, multiple submitters, no conflicts
|
Aug 15, 2023 | RCV000048308.24 | |
Benign (4) |
reviewed by expert panel
|
Aug 10, 2015 | RCV000077555.16 | |
Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Jan 2, 2022 | RCV000162980.15 | |
Benign (1) |
criteria provided, single submitter
|
Jan 24, 2024 | RCV000195343.20 | |
Likely benign (2) |
criteria provided, single submitter
|
Dec 23, 2020 | RCV001353892.10 | |
Likely benign (1) |
no assertion criteria provided
|
- | RCV002250539.9 | |
BRCA1-related disorder
|
Benign (1) |
criteria provided, single submitter
|
Mar 26, 2019 | RCV004554667.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Benign
(Aug 10, 2015)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000244347.1
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on … (more)
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000251 (less)
|
|
Benign
(Jan 24, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000076321.14
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
|
|
Benign
(Mar 26, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
BRCA1-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004752661.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
|
|
Benign
(Mar 26, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699066.2
First in ClinVar: Mar 17, 2018 Last updated: Nov 08, 2019 |
Comment:
Variant summary: BRCA1 c.3739G>A (p.Val1247Ile) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign … (more)
Variant summary: BRCA1 c.3739G>A (p.Val1247Ile) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 9.5e-05 in 282924 control chromosomes, predominantly within the East Asian subpopulation at a frequency of 0.001 in the gnomAD database. This frequency is about the same that is expected for a pathogenic variant in BRCA1 causing Hereditary Breast and Ovarian Cancer (0.001), suggesting that the variant might be a benign polymorphism found primarily in populations of East Asian origin. c.3739G>A has been reported in the literature in individuals, mostly of East Asian origin, affected with breast or ovarian cancer, however these reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Co-occurrence with another pathogenic variant has been reported (BRCA2 c.5213_5216delCTTA (p.Thr1738fsX2) in the UMD BRCA1 database), providing supporting evidence for a benign role. In addition, multifactorial probability models, performing systematic assessments of variants of unknown significance in the BRCA genes, predicted this variant to be likely neutral (Easton 2007 and Lindor 2012). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four other clinical diagnostic laboratories and one expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign (1x) / likely benign (3x) while the expert panel ruled on its classification as benign (1x). Based on the evidence outlined above, the variant was classified as benign. (less)
|
|
Benign
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001140545.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
|
|
Likely benign
(Dec 23, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000209958.11
First in ClinVar: Feb 24, 2015 Last updated: Apr 09, 2018 |
Comment:
This variant is associated with the following publications: (PMID: 27153395, 24916970, 25682074, 17924331, 15385441, 18824701, 15235020, 25337278, 26689913, 16826315, 27157322, 22753008, 18779604, 21990134, 27907908, 16267036, … (more)
This variant is associated with the following publications: (PMID: 27153395, 24916970, 25682074, 17924331, 15385441, 18824701, 15235020, 25337278, 26689913, 16826315, 27157322, 22753008, 18779604, 21990134, 27907908, 16267036, 10923033, 23704879, 33087888) (less)
|
|
Likely benign
(Feb 03, 2021)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002538239.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
|
|
Benign
(Aug 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV004026772.1
First in ClinVar: Aug 19, 2023 Last updated: Aug 19, 2023 |
|
|
Likely benign
(Jan 02, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000537455.2
First in ClinVar: Mar 24, 2015 Last updated: Feb 14, 2024 |
|
|
Benign
(Nov 18, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000213468.6
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
|
Uncertain significance
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591468.2 First in ClinVar: Mar 08, 2017 Last updated: Apr 13, 2021 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001958310.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
|
Likely benign
(-)
|
no assertion criteria provided
Method: literature only
|
Familial cancer of breast
Affected status: yes
Allele origin:
germline
|
Center for Precision Medicine, Meizhou People's Hospital
Accession: SCV002520870.1
First in ClinVar: Jun 05, 2022 Last updated: Jun 05, 2022 |
|
|
Likely benign
(Aug 29, 2022)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: no
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV003839265.1
First in ClinVar: Mar 18, 2023 Last updated: Mar 18, 2023 |
|
|
Uncertain significance
(May 29, 2002)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144854.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Observation 2:
Number of individuals with the variant: 2
Ethnicity/Population group: Asian
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Asian, Vietnamese
|
|
Benign
(Feb 03, 2010)
|
no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000109356.4
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001970522.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers. | Chan GHJ | Oncotarget | 2018 | PMID: 30093976 |
HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures. | Davies H | Nature medicine | 2017 | PMID: 28288110 |
Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel. | Kwong A | The Journal of molecular diagnostics : JMD | 2016 | PMID: 27157322 |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. | Maxwell KN | American journal of human genetics | 2016 | PMID: 27153395 |
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. | Wong-Brown MW | Breast cancer research and treatment | 2015 | PMID: 25682074 |
The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. | Peixoto A | Clinical genetics | 2015 | PMID: 24916970 |
Prevalence of BRCA1 gene mutation in breast cancer patients in Guangxi, China. | Sun L | International journal of clinical and experimental pathology | 2014 | PMID: 25337278 |
Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2. | Tram E | PloS one | 2013 | PMID: 23704879 |
A guide for functional analysis of BRCA1 variants of uncertain significance. | Millot GA | Human mutation | 2012 | PMID: 22753008 |
Mutation screening of RAD51C in high-risk breast and ovarian cancer families. | Lu W | Familial cancer | 2012 | PMID: 22476429 |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). | Lindor NM | Human mutation | 2012 | PMID: 21990134 |
Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. | Spearman AD | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2008 | PMID: 18824701 |
Performance of BRCA1/2 mutation prediction models in Asian Americans. | Kurian AW | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2008 | PMID: 18779604 |
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. | Easton DF | American journal of human genetics | 2007 | PMID: 17924331 |
BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families. | Peixoto A | Familial cancer | 2006 | PMID: 16826315 |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | Judkins T | Cancer research | 2005 | PMID: 16267036 |
Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition. | Pavlicek A | Human molecular genetics | 2004 | PMID: 15385441 |
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. | Abkevich V | Journal of medical genetics | 2004 | PMID: 15235020 |
The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
http://hci-exlovd.hci.utah.edu/variants.php?select_db=BRCA1&action=search_all&search_Variant%2FDNA=c.3739G%3EA | - | - | - | - |
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Text-mined citations for rs80357191 ...
HelpRecord last updated Jul 15, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.