ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1713A>G (p.Ile571Met)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance(6); Likely benign(2)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.1713A>G (p.Ile571Met)
Variation ID: 186051 Accession: VCV000186051.19
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093818 (GRCh38) [ NCBI UCSC ] 17: 41245835 (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 Oct 21, 2017 Jul 15, 2024 Apr 19, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.1713A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ile571Met missense NM_001407571.1:c.1500A>G NP_001394500.1:p.Ile500Met missense NM_001407581.1:c.1713A>G NP_001394510.1:p.Ile571Met missense NM_001407582.1:c.1713A>G NP_001394511.1:p.Ile571Met missense NM_001407583.1:c.1713A>G NP_001394512.1:p.Ile571Met missense NM_001407585.1:c.1713A>G NP_001394514.1:p.Ile571Met missense NM_001407587.1:c.1710A>G NP_001394516.1:p.Ile570Met missense NM_001407590.1:c.1710A>G NP_001394519.1:p.Ile570Met missense NM_001407591.1:c.1710A>G NP_001394520.1:p.Ile570Met missense NM_001407593.1:c.1713A>G NP_001394522.1:p.Ile571Met missense NM_001407594.1:c.1713A>G NP_001394523.1:p.Ile571Met missense NM_001407596.1:c.1713A>G NP_001394525.1:p.Ile571Met missense NM_001407597.1:c.1713A>G NP_001394526.1:p.Ile571Met missense NM_001407598.1:c.1713A>G NP_001394527.1:p.Ile571Met missense NM_001407602.1:c.1713A>G NP_001394531.1:p.Ile571Met missense NM_001407603.1:c.1713A>G NP_001394532.1:p.Ile571Met missense NM_001407605.1:c.1713A>G NP_001394534.1:p.Ile571Met missense NM_001407610.1:c.1710A>G NP_001394539.1:p.Ile570Met missense NM_001407611.1:c.1710A>G NP_001394540.1:p.Ile570Met missense NM_001407612.1:c.1710A>G NP_001394541.1:p.Ile570Met missense NM_001407613.1:c.1710A>G NP_001394542.1:p.Ile570Met missense NM_001407614.1:c.1710A>G NP_001394543.1:p.Ile570Met missense NM_001407615.1:c.1710A>G NP_001394544.1:p.Ile570Met missense NM_001407616.1:c.1713A>G NP_001394545.1:p.Ile571Met missense NM_001407617.1:c.1713A>G NP_001394546.1:p.Ile571Met missense NM_001407618.1:c.1713A>G NP_001394547.1:p.Ile571Met missense NM_001407619.1:c.1713A>G NP_001394548.1:p.Ile571Met missense NM_001407620.1:c.1713A>G NP_001394549.1:p.Ile571Met missense NM_001407621.1:c.1713A>G NP_001394550.1:p.Ile571Met missense NM_001407622.1:c.1713A>G NP_001394551.1:p.Ile571Met missense NM_001407623.1:c.1713A>G NP_001394552.1:p.Ile571Met missense NM_001407624.1:c.1713A>G NP_001394553.1:p.Ile571Met missense NM_001407625.1:c.1713A>G NP_001394554.1:p.Ile571Met missense NM_001407626.1:c.1713A>G NP_001394555.1:p.Ile571Met missense NM_001407627.1:c.1710A>G NP_001394556.1:p.Ile570Met missense NM_001407628.1:c.1710A>G NP_001394557.1:p.Ile570Met missense NM_001407629.1:c.1710A>G NP_001394558.1:p.Ile570Met missense NM_001407630.1:c.1710A>G NP_001394559.1:p.Ile570Met missense NM_001407631.1:c.1710A>G NP_001394560.1:p.Ile570Met missense NM_001407632.1:c.1710A>G NP_001394561.1:p.Ile570Met missense NM_001407633.1:c.1710A>G NP_001394562.1:p.Ile570Met missense NM_001407634.1:c.1710A>G NP_001394563.1:p.Ile570Met missense NM_001407635.1:c.1710A>G NP_001394564.1:p.Ile570Met missense NM_001407636.1:c.1710A>G NP_001394565.1:p.Ile570Met missense NM_001407637.1:c.1710A>G NP_001394566.1:p.Ile570Met missense NM_001407638.1:c.1710A>G NP_001394567.1:p.Ile570Met missense NM_001407639.1:c.1713A>G NP_001394568.1:p.Ile571Met missense NM_001407640.1:c.1713A>G NP_001394569.1:p.Ile571Met missense NM_001407641.1:c.1713A>G NP_001394570.1:p.Ile571Met missense NM_001407642.1:c.1713A>G NP_001394571.1:p.Ile571Met missense NM_001407644.1:c.1710A>G NP_001394573.1:p.Ile570Met missense NM_001407645.1:c.1710A>G NP_001394574.1:p.Ile570Met missense NM_001407646.1:c.1704A>G NP_001394575.1:p.Ile568Met missense NM_001407647.1:c.1704A>G NP_001394576.1:p.Ile568Met missense NM_001407648.1:c.1590A>G NP_001394577.1:p.Ile530Met missense NM_001407649.1:c.1587A>G NP_001394578.1:p.Ile529Met missense NM_001407652.1:c.1713A>G NP_001394581.1:p.Ile571Met missense NM_001407653.1:c.1635A>G NP_001394582.1:p.Ile545Met missense NM_001407654.1:c.1635A>G NP_001394583.1:p.Ile545Met missense NM_001407655.1:c.1635A>G NP_001394584.1:p.Ile545Met missense NM_001407656.1:c.1635A>G NP_001394585.1:p.Ile545Met missense NM_001407657.1:c.1635A>G NP_001394586.1:p.Ile545Met missense NM_001407658.1:c.1635A>G NP_001394587.1:p.Ile545Met missense NM_001407659.1:c.1632A>G NP_001394588.1:p.Ile544Met missense NM_001407660.1:c.1632A>G NP_001394589.1:p.Ile544Met missense NM_001407661.1:c.1632A>G NP_001394590.1:p.Ile544Met missense NM_001407662.1:c.1632A>G NP_001394591.1:p.Ile544Met missense NM_001407663.1:c.1635A>G NP_001394592.1:p.Ile545Met missense NM_001407664.1:c.1590A>G NP_001394593.1:p.Ile530Met missense NM_001407665.1:c.1590A>G NP_001394594.1:p.Ile530Met missense NM_001407666.1:c.1590A>G NP_001394595.1:p.Ile530Met missense NM_001407667.1:c.1590A>G NP_001394596.1:p.Ile530Met missense NM_001407668.1:c.1590A>G NP_001394597.1:p.Ile530Met missense NM_001407669.1:c.1590A>G NP_001394598.1:p.Ile530Met missense NM_001407670.1:c.1587A>G NP_001394599.1:p.Ile529Met missense NM_001407671.1:c.1587A>G NP_001394600.1:p.Ile529Met missense NM_001407672.1:c.1587A>G NP_001394601.1:p.Ile529Met missense NM_001407673.1:c.1587A>G NP_001394602.1:p.Ile529Met missense NM_001407674.1:c.1590A>G NP_001394603.1:p.Ile530Met missense NM_001407675.1:c.1590A>G NP_001394604.1:p.Ile530Met missense NM_001407676.1:c.1590A>G NP_001394605.1:p.Ile530Met missense NM_001407677.1:c.1590A>G NP_001394606.1:p.Ile530Met missense NM_001407678.1:c.1590A>G NP_001394607.1:p.Ile530Met missense NM_001407679.1:c.1590A>G NP_001394608.1:p.Ile530Met missense NM_001407680.1:c.1590A>G NP_001394609.1:p.Ile530Met missense NM_001407681.1:c.1590A>G NP_001394610.1:p.Ile530Met missense NM_001407682.1:c.1590A>G NP_001394611.1:p.Ile530Met missense NM_001407683.1:c.1590A>G NP_001394612.1:p.Ile530Met missense NM_001407684.1:c.1713A>G NP_001394613.1:p.Ile571Met missense NM_001407685.1:c.1587A>G NP_001394614.1:p.Ile529Met missense NM_001407686.1:c.1587A>G NP_001394615.1:p.Ile529Met missense NM_001407687.1:c.1587A>G NP_001394616.1:p.Ile529Met missense NM_001407688.1:c.1587A>G NP_001394617.1:p.Ile529Met missense NM_001407689.1:c.1587A>G NP_001394618.1:p.Ile529Met missense NM_001407690.1:c.1587A>G NP_001394619.1:p.Ile529Met missense NM_001407691.1:c.1587A>G NP_001394620.1:p.Ile529Met missense NM_001407692.1:c.1572A>G NP_001394621.1:p.Ile524Met missense NM_001407694.1:c.1572A>G NP_001394623.1:p.Ile524Met missense NM_001407695.1:c.1572A>G NP_001394624.1:p.Ile524Met missense NM_001407696.1:c.1572A>G NP_001394625.1:p.Ile524Met missense NM_001407697.1:c.1572A>G NP_001394626.1:p.Ile524Met missense NM_001407698.1:c.1572A>G NP_001394627.1:p.Ile524Met missense NM_001407724.1:c.1572A>G NP_001394653.1:p.Ile524Met missense NM_001407725.1:c.1572A>G NP_001394654.1:p.Ile524Met missense NM_001407726.1:c.1572A>G NP_001394655.1:p.Ile524Met missense NM_001407727.1:c.1572A>G NP_001394656.1:p.Ile524Met missense NM_001407728.1:c.1572A>G NP_001394657.1:p.Ile524Met missense NM_001407729.1:c.1572A>G NP_001394658.1:p.Ile524Met missense NM_001407730.1:c.1572A>G NP_001394659.1:p.Ile524Met missense NM_001407731.1:c.1572A>G NP_001394660.1:p.Ile524Met missense NM_001407732.1:c.1572A>G NP_001394661.1:p.Ile524Met missense NM_001407733.1:c.1572A>G NP_001394662.1:p.Ile524Met missense NM_001407734.1:c.1572A>G NP_001394663.1:p.Ile524Met missense NM_001407735.1:c.1572A>G NP_001394664.1:p.Ile524Met missense NM_001407736.1:c.1572A>G NP_001394665.1:p.Ile524Met missense NM_001407737.1:c.1572A>G NP_001394666.1:p.Ile524Met missense NM_001407738.1:c.1572A>G NP_001394667.1:p.Ile524Met missense NM_001407739.1:c.1572A>G NP_001394668.1:p.Ile524Met missense NM_001407740.1:c.1569A>G NP_001394669.1:p.Ile523Met missense NM_001407741.1:c.1569A>G NP_001394670.1:p.Ile523Met missense NM_001407742.1:c.1569A>G NP_001394671.1:p.Ile523Met missense NM_001407743.1:c.1569A>G NP_001394672.1:p.Ile523Met missense NM_001407744.1:c.1569A>G NP_001394673.1:p.Ile523Met missense NM_001407745.1:c.1569A>G NP_001394674.1:p.Ile523Met missense NM_001407746.1:c.1569A>G NP_001394675.1:p.Ile523Met missense NM_001407747.1:c.1569A>G NP_001394676.1:p.Ile523Met missense NM_001407748.1:c.1569A>G NP_001394677.1:p.Ile523Met missense NM_001407749.1:c.1569A>G NP_001394678.1:p.Ile523Met missense NM_001407750.1:c.1572A>G NP_001394679.1:p.Ile524Met missense NM_001407751.1:c.1572A>G NP_001394680.1:p.Ile524Met missense NM_001407752.1:c.1572A>G NP_001394681.1:p.Ile524Met missense NM_001407838.1:c.1569A>G NP_001394767.1:p.Ile523Met missense NM_001407839.1:c.1569A>G NP_001394768.1:p.Ile523Met missense NM_001407841.1:c.1569A>G NP_001394770.1:p.Ile523Met missense NM_001407842.1:c.1569A>G NP_001394771.1:p.Ile523Met missense NM_001407843.1:c.1569A>G NP_001394772.1:p.Ile523Met missense NM_001407844.1:c.1569A>G NP_001394773.1:p.Ile523Met missense NM_001407845.1:c.1569A>G NP_001394774.1:p.Ile523Met missense NM_001407846.1:c.1569A>G NP_001394775.1:p.Ile523Met missense NM_001407847.1:c.1569A>G NP_001394776.1:p.Ile523Met missense NM_001407848.1:c.1569A>G NP_001394777.1:p.Ile523Met missense NM_001407849.1:c.1569A>G NP_001394778.1:p.Ile523Met missense NM_001407850.1:c.1572A>G NP_001394779.1:p.Ile524Met missense NM_001407851.1:c.1572A>G NP_001394780.1:p.Ile524Met missense NM_001407852.1:c.1572A>G NP_001394781.1:p.Ile524Met missense NM_001407853.1:c.1500A>G NP_001394782.1:p.Ile500Met missense NM_001407854.1:c.1713A>G NP_001394783.1:p.Ile571Met missense NM_001407858.1:c.1713A>G NP_001394787.1:p.Ile571Met missense NM_001407859.1:c.1713A>G NP_001394788.1:p.Ile571Met missense NM_001407860.1:c.1710A>G NP_001394789.1:p.Ile570Met missense NM_001407861.1:c.1710A>G NP_001394790.1:p.Ile570Met missense NM_001407862.1:c.1512A>G NP_001394791.1:p.Ile504Met missense NM_001407863.1:c.1590A>G NP_001394792.1:p.Ile530Met missense NM_001407874.1:c.1509A>G NP_001394803.1:p.Ile503Met missense NM_001407875.1:c.1509A>G NP_001394804.1:p.Ile503Met missense NM_001407879.1:c.1503A>G NP_001394808.1:p.Ile501Met missense NM_001407881.1:c.1503A>G NP_001394810.1:p.Ile501Met missense NM_001407882.1:c.1503A>G NP_001394811.1:p.Ile501Met missense NM_001407884.1:c.1503A>G NP_001394813.1:p.Ile501Met missense NM_001407885.1:c.1503A>G NP_001394814.1:p.Ile501Met missense NM_001407886.1:c.1503A>G NP_001394815.1:p.Ile501Met missense NM_001407887.1:c.1503A>G NP_001394816.1:p.Ile501Met missense NM_001407889.1:c.1503A>G NP_001394818.1:p.Ile501Met missense NM_001407894.1:c.1500A>G NP_001394823.1:p.Ile500Met missense NM_001407895.1:c.1500A>G NP_001394824.1:p.Ile500Met missense NM_001407896.1:c.1500A>G NP_001394825.1:p.Ile500Met missense NM_001407897.1:c.1500A>G NP_001394826.1:p.Ile500Met missense NM_001407898.1:c.1500A>G NP_001394827.1:p.Ile500Met missense NM_001407899.1:c.1500A>G NP_001394828.1:p.Ile500Met missense NM_001407900.1:c.1503A>G NP_001394829.1:p.Ile501Met missense NM_001407902.1:c.1503A>G NP_001394831.1:p.Ile501Met missense NM_001407904.1:c.1503A>G NP_001394833.1:p.Ile501Met missense NM_001407906.1:c.1503A>G NP_001394835.1:p.Ile501Met missense NM_001407907.1:c.1503A>G NP_001394836.1:p.Ile501Met missense NM_001407908.1:c.1503A>G NP_001394837.1:p.Ile501Met missense NM_001407909.1:c.1503A>G NP_001394838.1:p.Ile501Met missense NM_001407910.1:c.1503A>G NP_001394839.1:p.Ile501Met missense NM_001407915.1:c.1500A>G NP_001394844.1:p.Ile500Met missense NM_001407916.1:c.1500A>G NP_001394845.1:p.Ile500Met missense NM_001407917.1:c.1500A>G NP_001394846.1:p.Ile500Met missense NM_001407918.1:c.1500A>G NP_001394847.1:p.Ile500Met missense NM_001407919.1:c.1590A>G NP_001394848.1:p.Ile530Met missense NM_001407920.1:c.1449A>G NP_001394849.1:p.Ile483Met missense NM_001407921.1:c.1449A>G NP_001394850.1:p.Ile483Met missense NM_001407922.1:c.1449A>G NP_001394851.1:p.Ile483Met missense NM_001407923.1:c.1449A>G NP_001394852.1:p.Ile483Met missense NM_001407924.1:c.1449A>G NP_001394853.1:p.Ile483Met missense NM_001407925.1:c.1449A>G NP_001394854.1:p.Ile483Met missense NM_001407926.1:c.1449A>G NP_001394855.1:p.Ile483Met missense NM_001407927.1:c.1449A>G NP_001394856.1:p.Ile483Met missense NM_001407928.1:c.1449A>G NP_001394857.1:p.Ile483Met missense NM_001407929.1:c.1449A>G NP_001394858.1:p.Ile483Met missense NM_001407930.1:c.1446A>G NP_001394859.1:p.Ile482Met missense NM_001407931.1:c.1446A>G NP_001394860.1:p.Ile482Met missense NM_001407932.1:c.1446A>G NP_001394861.1:p.Ile482Met missense NM_001407933.1:c.1449A>G NP_001394862.1:p.Ile483Met missense NM_001407934.1:c.1446A>G NP_001394863.1:p.Ile482Met missense NM_001407935.1:c.1449A>G NP_001394864.1:p.Ile483Met missense NM_001407936.1:c.1446A>G NP_001394865.1:p.Ile482Met missense NM_001407937.1:c.1590A>G NP_001394866.1:p.Ile530Met missense NM_001407938.1:c.1590A>G NP_001394867.1:p.Ile530Met missense NM_001407939.1:c.1590A>G NP_001394868.1:p.Ile530Met missense NM_001407940.1:c.1587A>G NP_001394869.1:p.Ile529Met missense NM_001407941.1:c.1587A>G NP_001394870.1:p.Ile529Met missense NM_001407942.1:c.1572A>G NP_001394871.1:p.Ile524Met missense NM_001407943.1:c.1569A>G NP_001394872.1:p.Ile523Met missense NM_001407944.1:c.1572A>G NP_001394873.1:p.Ile524Met missense NM_001407945.1:c.1572A>G NP_001394874.1:p.Ile524Met missense NM_001407946.1:c.1380A>G NP_001394875.1:p.Ile460Met missense NM_001407947.1:c.1380A>G NP_001394876.1:p.Ile460Met missense NM_001407948.1:c.1380A>G NP_001394877.1:p.Ile460Met missense NM_001407949.1:c.1380A>G NP_001394878.1:p.Ile460Met missense NM_001407950.1:c.1380A>G NP_001394879.1:p.Ile460Met missense NM_001407951.1:c.1380A>G NP_001394880.1:p.Ile460Met missense NM_001407952.1:c.1380A>G NP_001394881.1:p.Ile460Met missense NM_001407953.1:c.1380A>G NP_001394882.1:p.Ile460Met missense NM_001407954.1:c.1377A>G NP_001394883.1:p.Ile459Met missense NM_001407955.1:c.1377A>G NP_001394884.1:p.Ile459Met missense NM_001407956.1:c.1377A>G NP_001394885.1:p.Ile459Met missense NM_001407957.1:c.1380A>G NP_001394886.1:p.Ile460Met missense NM_001407958.1:c.1377A>G NP_001394887.1:p.Ile459Met missense NM_001407959.1:c.1332A>G NP_001394888.1:p.Ile444Met missense NM_001407960.1:c.1332A>G NP_001394889.1:p.Ile444Met missense NM_001407962.1:c.1329A>G NP_001394891.1:p.Ile443Met missense NM_001407963.1:c.1332A>G NP_001394892.1:p.Ile444Met missense NM_001407964.1:c.1569A>G NP_001394893.1:p.Ile523Met missense NM_001407965.1:c.1209A>G NP_001394894.1:p.Ile403Met missense NM_001407966.1:c.825A>G NP_001394895.1:p.Ile275Met missense NM_001407967.1:c.825A>G NP_001394896.1:p.Ile275Met missense NM_001407968.1:c.787+926A>G intron variant NM_001407969.1:c.787+926A>G intron variant NM_001407970.1:c.787+926A>G intron variant NM_001407971.1:c.787+926A>G intron variant NM_001407972.1:c.784+926A>G intron variant NM_001407973.1:c.787+926A>G intron variant NM_001407974.1:c.787+926A>G intron variant NM_001407975.1:c.787+926A>G intron variant NM_001407976.1:c.787+926A>G intron variant NM_001407977.1:c.787+926A>G intron variant NM_001407978.1:c.787+926A>G intron variant NM_001407979.1:c.787+926A>G intron variant NM_001407980.1:c.787+926A>G intron variant NM_001407981.1:c.787+926A>G intron variant NM_001407982.1:c.787+926A>G intron variant NM_001407983.1:c.787+926A>G intron variant NM_001407984.1:c.784+926A>G intron variant NM_001407985.1:c.784+926A>G intron variant NM_001407986.1:c.784+926A>G intron variant NM_001407990.1:c.787+926A>G intron variant NM_001407991.1:c.784+926A>G intron variant NM_001407992.1:c.784+926A>G intron variant NM_001407993.1:c.787+926A>G intron variant NM_001408392.1:c.784+926A>G intron variant NM_001408396.1:c.784+926A>G intron variant NM_001408397.1:c.784+926A>G intron variant NM_001408398.1:c.784+926A>G intron variant NM_001408399.1:c.784+926A>G intron variant NM_001408400.1:c.784+926A>G intron variant NM_001408401.1:c.784+926A>G intron variant NM_001408402.1:c.784+926A>G intron variant NM_001408403.1:c.787+926A>G intron variant NM_001408404.1:c.787+926A>G intron variant NM_001408406.1:c.790+923A>G intron variant NM_001408407.1:c.784+926A>G intron variant NM_001408408.1:c.778+926A>G intron variant NM_001408409.1:c.709+926A>G intron variant NM_001408410.1:c.646+926A>G intron variant NM_001408411.1:c.709+926A>G intron variant NM_001408412.1:c.709+926A>G intron variant NM_001408413.1:c.706+926A>G intron variant NM_001408414.1:c.709+926A>G intron variant NM_001408415.1:c.709+926A>G intron variant NM_001408416.1:c.706+926A>G intron variant NM_001408418.1:c.670+2028A>G intron variant NM_001408419.1:c.670+2028A>G intron variant NM_001408420.1:c.670+2028A>G intron variant NM_001408421.1:c.667+2028A>G intron variant NM_001408422.1:c.670+2028A>G intron variant NM_001408423.1:c.670+2028A>G intron variant NM_001408424.1:c.667+2028A>G intron variant NM_001408425.1:c.664+926A>G intron variant NM_001408426.1:c.664+926A>G intron variant NM_001408427.1:c.664+926A>G intron variant NM_001408428.1:c.664+926A>G intron variant NM_001408429.1:c.664+926A>G intron variant NM_001408430.1:c.664+926A>G intron variant NM_001408431.1:c.667+2028A>G intron variant NM_001408432.1:c.661+926A>G intron variant NM_001408433.1:c.661+926A>G intron variant NM_001408434.1:c.661+926A>G intron variant NM_001408435.1:c.661+926A>G intron variant NM_001408436.1:c.664+926A>G intron variant NM_001408437.1:c.664+926A>G intron variant NM_001408438.1:c.664+926A>G intron variant NM_001408439.1:c.664+926A>G intron variant NM_001408440.1:c.664+926A>G intron variant NM_001408441.1:c.664+926A>G intron variant NM_001408442.1:c.664+926A>G intron variant NM_001408443.1:c.664+926A>G intron variant NM_001408444.1:c.664+926A>G intron variant NM_001408445.1:c.661+926A>G intron variant NM_001408446.1:c.661+926A>G intron variant NM_001408447.1:c.661+926A>G intron variant NM_001408448.1:c.661+926A>G intron variant NM_001408450.1:c.661+926A>G intron variant NM_001408451.1:c.652+926A>G intron variant NM_001408452.1:c.646+926A>G intron variant NM_001408453.1:c.646+926A>G intron variant NM_001408454.1:c.646+926A>G intron variant NM_001408455.1:c.646+926A>G intron variant NM_001408456.1:c.646+926A>G intron variant NM_001408457.1:c.646+926A>G intron variant NM_001408458.1:c.646+926A>G intron variant NM_001408459.1:c.646+926A>G intron variant NM_001408460.1:c.646+926A>G intron variant NM_001408461.1:c.646+926A>G intron variant NM_001408462.1:c.643+926A>G intron variant NM_001408463.1:c.643+926A>G intron variant NM_001408464.1:c.643+926A>G intron variant NM_001408465.1:c.643+926A>G intron variant NM_001408466.1:c.646+926A>G intron variant NM_001408467.1:c.646+926A>G intron variant NM_001408468.1:c.643+926A>G intron variant NM_001408469.1:c.646+926A>G intron variant NM_001408470.1:c.643+926A>G intron variant NM_001408472.1:c.787+926A>G intron variant NM_001408473.1:c.784+926A>G intron variant NM_001408474.1:c.586+926A>G intron variant NM_001408475.1:c.583+926A>G intron variant NM_001408476.1:c.586+926A>G intron variant NM_001408478.1:c.577+926A>G intron variant NM_001408479.1:c.577+926A>G intron variant NM_001408480.1:c.577+926A>G intron variant NM_001408481.1:c.577+926A>G intron variant NM_001408482.1:c.577+926A>G intron variant NM_001408483.1:c.577+926A>G intron variant NM_001408484.1:c.577+926A>G intron variant NM_001408485.1:c.577+926A>G intron variant NM_001408489.1:c.577+926A>G intron variant NM_001408490.1:c.574+926A>G intron variant NM_001408491.1:c.574+926A>G intron variant NM_001408492.1:c.577+926A>G intron variant NM_001408493.1:c.574+926A>G intron variant NM_001408494.1:c.548-2786A>G intron variant NM_001408495.1:c.545-2786A>G intron variant NM_001408496.1:c.523+926A>G intron variant NM_001408497.1:c.523+926A>G intron variant NM_001408498.1:c.523+926A>G intron variant NM_001408499.1:c.523+926A>G intron variant NM_001408500.1:c.523+926A>G intron variant NM_001408501.1:c.523+926A>G intron variant NM_001408502.1:c.454+926A>G intron variant NM_001408503.1:c.520+926A>G intron variant NM_001408504.1:c.520+926A>G intron variant NM_001408505.1:c.520+926A>G intron variant NM_001408506.1:c.460+2028A>G intron variant NM_001408507.1:c.460+2028A>G intron variant NM_001408508.1:c.451+926A>G intron variant NM_001408509.1:c.451+926A>G intron variant NM_001408510.1:c.406+926A>G intron variant NM_001408511.1:c.404-2786A>G intron variant NM_001408512.1:c.283+926A>G intron variant NM_001408513.1:c.577+926A>G intron variant NM_001408514.1:c.577+926A>G intron variant NM_007297.4:c.1572A>G NP_009228.2:p.Ile524Met missense NM_007298.4:c.787+926A>G intron variant NM_007299.4:c.787+926A>G intron variant NM_007300.4:c.1713A>G NP_009231.2:p.Ile571Met missense NR_027676.1:n.1849A>G NC_000017.11:g.43093818T>C NC_000017.10:g.41245835T>C NG_005905.2:g.124166A>G LRG_292:g.124166A>G LRG_292t1:c.1713A>G LRG_292p1:p.Ile571Met - Protein change
- I571M, I524M, I444M, I500M, I504M, I523M, I530M, I570M, I403M, I443M, I460M, I482M, I529M, I544M, I275M, I483M, I501M, I545M, I459M, I503M, I568M
- Other names
- -
- Canonical SPDI
- NC_000017.11:43093817:T:C
-
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.
-
0.00020 (C)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
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 |
13037 | 14843 |
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. |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
|
Oct 31, 2023 | RCV000165574.12 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Oct 31, 2022 | RCV000458990.10 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Oct 17, 2017 | RCV000662805.2 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
|
Mar 22, 2023 | RCV000985373.4 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Apr 19, 2024 | RCV004586585.1 |
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. |
|
---|---|---|---|---|---|
Likely benign
(May 22, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000903892.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
|
|
Likely benign
(Mar 23, 2023)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV003851089.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023
Comment:
BRCA1 coldspot (exon 11 using historical exon numbering). Reclassification based on statistical prior probability
|
Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
|
|
Uncertain significance
(Oct 31, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000216308.7
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
The p.I571M variant (also known as c.1713A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide … (more)
The p.I571M variant (also known as c.1713A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 1713. The isoleucine at codon 571 is replaced by methionine, an amino acid with highly similar properties. This alteration was reported in a cohort of Brazilian patients who underwent multigene panel testing due to a personal and/or family history of breast, ovarian, endometrial or other cancers (Carvalho CM et al. Rev Bras Ginecol Obstet, 2023 Feb;45:74-81). This amino acid position is poorly 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. (less)
|
|
Uncertain significance
(Apr 09, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133495.2
First in ClinVar: Jan 05, 2020 Last updated: Jan 03, 2022 |
|
|
Uncertain significance
(Apr 19, 2024)
|
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: SCV005077196.1
First in ClinVar: Jul 15, 2024 Last updated: Jul 15, 2024 |
Comment:
Variant summary: BRCA1 c.1713A>G (p.Ile571Met) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign … (more)
Variant summary: BRCA1 c.1713A>G (p.Ile571Met) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250736 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1713A>G has been reported in the literature in at least one individual with a personal and/or family history of clinical features of Hereditary Breast And Ovarian Cancer Syndrome (Carvalho_2023). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 36977404). ClinVar contains an entry for this variant (Variation ID: 186051). Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
|
|
Uncertain significance
(Oct 17, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000785638.2
First in ClinVar: Jul 15, 2018 Last updated: Jul 15, 2018 |
|
|
Uncertain significance
(Oct 31, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000549367.9
First in ClinVar: Apr 17, 2017 Last updated: Feb 07, 2023 |
Comment:
This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 571 of the BRCA1 protein (p.Ile571Met). … (more)
This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 571 of the BRCA1 protein (p.Ile571Met). This variant is present in population databases (rs552505690, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 186051). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
|
|
Uncertain significance
(Mar 22, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV003845498.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023 |
Comment:
Observed in individuals undergoing multi-gene panel testing based on personal and family history of cancer (Li et al., 2020); Not observed at significant frequency in … (more)
Observed in individuals undergoing multi-gene panel testing based on personal and family history of cancer (Li et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as 1832A>G; This variant is associated with the following publications: (PMID: 31911673, 32377563, 29884841, 30630528, 31853058, 15343273, 10792030, 10426999) (less)
|
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 |
---|---|---|---|---|
Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer. | Carvalho CM | Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia | 2023 | PMID: 36977404 |
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots". | Dines JN | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 31911673 |
Text-mined citations for rs552505690 ...
HelpRecord last updated Oct 08, 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.