ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)
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(4); Benign(1); Likely benign(4)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)
Variation ID: 37594 Accession: VCV000037594.35
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43099876 (GRCh38) [ NCBI UCSC ] 17: 41251893 (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 Sep 27, 2014 Oct 8, 2024 Jan 5, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.446A>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu149Ala missense NM_001407571.1:c.233A>C NP_001394500.1:p.Glu78Ala missense NM_001407581.1:c.446A>C NP_001394510.1:p.Glu149Ala missense NM_001407582.1:c.446A>C NP_001394511.1:p.Glu149Ala missense NM_001407583.1:c.446A>C NP_001394512.1:p.Glu149Ala missense NM_001407585.1:c.446A>C NP_001394514.1:p.Glu149Ala missense NM_001407587.1:c.443A>C NP_001394516.1:p.Glu148Ala missense NM_001407590.1:c.443A>C NP_001394519.1:p.Glu148Ala missense NM_001407591.1:c.443A>C NP_001394520.1:p.Glu148Ala missense NM_001407593.1:c.446A>C NP_001394522.1:p.Glu149Ala missense NM_001407594.1:c.446A>C NP_001394523.1:p.Glu149Ala missense NM_001407596.1:c.446A>C NP_001394525.1:p.Glu149Ala missense NM_001407597.1:c.446A>C NP_001394526.1:p.Glu149Ala missense NM_001407598.1:c.446A>C NP_001394527.1:p.Glu149Ala missense NM_001407602.1:c.446A>C NP_001394531.1:p.Glu149Ala missense NM_001407603.1:c.446A>C NP_001394532.1:p.Glu149Ala missense NM_001407605.1:c.446A>C NP_001394534.1:p.Glu149Ala missense NM_001407610.1:c.443A>C NP_001394539.1:p.Glu148Ala missense NM_001407611.1:c.443A>C NP_001394540.1:p.Glu148Ala missense NM_001407612.1:c.443A>C NP_001394541.1:p.Glu148Ala missense NM_001407613.1:c.443A>C NP_001394542.1:p.Glu148Ala missense NM_001407614.1:c.443A>C NP_001394543.1:p.Glu148Ala missense NM_001407615.1:c.443A>C NP_001394544.1:p.Glu148Ala missense NM_001407616.1:c.446A>C NP_001394545.1:p.Glu149Ala missense NM_001407617.1:c.446A>C NP_001394546.1:p.Glu149Ala missense NM_001407618.1:c.446A>C NP_001394547.1:p.Glu149Ala missense NM_001407619.1:c.446A>C NP_001394548.1:p.Glu149Ala missense NM_001407620.1:c.446A>C NP_001394549.1:p.Glu149Ala missense NM_001407621.1:c.446A>C NP_001394550.1:p.Glu149Ala missense NM_001407622.1:c.446A>C NP_001394551.1:p.Glu149Ala missense NM_001407623.1:c.446A>C NP_001394552.1:p.Glu149Ala missense NM_001407624.1:c.446A>C NP_001394553.1:p.Glu149Ala missense NM_001407625.1:c.446A>C NP_001394554.1:p.Glu149Ala missense NM_001407626.1:c.446A>C NP_001394555.1:p.Glu149Ala missense NM_001407627.1:c.443A>C NP_001394556.1:p.Glu148Ala missense NM_001407628.1:c.443A>C NP_001394557.1:p.Glu148Ala missense NM_001407629.1:c.443A>C NP_001394558.1:p.Glu148Ala missense NM_001407630.1:c.443A>C NP_001394559.1:p.Glu148Ala missense NM_001407631.1:c.443A>C NP_001394560.1:p.Glu148Ala missense NM_001407632.1:c.443A>C NP_001394561.1:p.Glu148Ala missense NM_001407633.1:c.443A>C NP_001394562.1:p.Glu148Ala missense NM_001407634.1:c.443A>C NP_001394563.1:p.Glu148Ala missense NM_001407635.1:c.443A>C NP_001394564.1:p.Glu148Ala missense NM_001407636.1:c.443A>C NP_001394565.1:p.Glu148Ala missense NM_001407637.1:c.443A>C NP_001394566.1:p.Glu148Ala missense NM_001407638.1:c.443A>C NP_001394567.1:p.Glu148Ala missense NM_001407639.1:c.446A>C NP_001394568.1:p.Glu149Ala missense NM_001407640.1:c.446A>C NP_001394569.1:p.Glu149Ala missense NM_001407641.1:c.446A>C NP_001394570.1:p.Glu149Ala missense NM_001407642.1:c.446A>C NP_001394571.1:p.Glu149Ala missense NM_001407644.1:c.443A>C NP_001394573.1:p.Glu148Ala missense NM_001407645.1:c.443A>C NP_001394574.1:p.Glu148Ala missense NM_001407646.1:c.437A>C NP_001394575.1:p.Glu146Ala missense NM_001407647.1:c.437A>C NP_001394576.1:p.Glu146Ala missense NM_001407648.1:c.446A>C NP_001394577.1:p.Glu149Ala missense NM_001407649.1:c.443A>C NP_001394578.1:p.Glu148Ala missense NM_001407652.1:c.446A>C NP_001394581.1:p.Glu149Ala missense NM_001407653.1:c.368A>C NP_001394582.1:p.Glu123Ala missense NM_001407654.1:c.368A>C NP_001394583.1:p.Glu123Ala missense NM_001407655.1:c.368A>C NP_001394584.1:p.Glu123Ala missense NM_001407656.1:c.368A>C NP_001394585.1:p.Glu123Ala missense NM_001407657.1:c.368A>C NP_001394586.1:p.Glu123Ala missense NM_001407658.1:c.368A>C NP_001394587.1:p.Glu123Ala missense NM_001407659.1:c.365A>C NP_001394588.1:p.Glu122Ala missense NM_001407660.1:c.365A>C NP_001394589.1:p.Glu122Ala missense NM_001407661.1:c.365A>C NP_001394590.1:p.Glu122Ala missense NM_001407662.1:c.365A>C NP_001394591.1:p.Glu122Ala missense NM_001407663.1:c.368A>C NP_001394592.1:p.Glu123Ala missense NM_001407664.1:c.446A>C NP_001394593.1:p.Glu149Ala missense NM_001407665.1:c.446A>C NP_001394594.1:p.Glu149Ala missense NM_001407666.1:c.446A>C NP_001394595.1:p.Glu149Ala missense NM_001407667.1:c.446A>C NP_001394596.1:p.Glu149Ala missense NM_001407668.1:c.446A>C NP_001394597.1:p.Glu149Ala missense NM_001407669.1:c.446A>C NP_001394598.1:p.Glu149Ala missense NM_001407670.1:c.443A>C NP_001394599.1:p.Glu148Ala missense NM_001407671.1:c.443A>C NP_001394600.1:p.Glu148Ala missense NM_001407672.1:c.443A>C NP_001394601.1:p.Glu148Ala missense NM_001407673.1:c.443A>C NP_001394602.1:p.Glu148Ala missense NM_001407674.1:c.446A>C NP_001394603.1:p.Glu149Ala missense NM_001407675.1:c.446A>C NP_001394604.1:p.Glu149Ala missense NM_001407676.1:c.446A>C NP_001394605.1:p.Glu149Ala missense NM_001407677.1:c.446A>C NP_001394606.1:p.Glu149Ala missense NM_001407678.1:c.446A>C NP_001394607.1:p.Glu149Ala missense NM_001407679.1:c.446A>C NP_001394608.1:p.Glu149Ala missense NM_001407680.1:c.446A>C NP_001394609.1:p.Glu149Ala missense NM_001407681.1:c.446A>C NP_001394610.1:p.Glu149Ala missense NM_001407682.1:c.446A>C NP_001394611.1:p.Glu149Ala missense NM_001407683.1:c.446A>C NP_001394612.1:p.Glu149Ala missense NM_001407684.1:c.446A>C NP_001394613.1:p.Glu149Ala missense NM_001407685.1:c.443A>C NP_001394614.1:p.Glu148Ala missense NM_001407686.1:c.443A>C NP_001394615.1:p.Glu148Ala missense NM_001407687.1:c.443A>C NP_001394616.1:p.Glu148Ala missense NM_001407688.1:c.443A>C NP_001394617.1:p.Glu148Ala missense NM_001407689.1:c.443A>C NP_001394618.1:p.Glu148Ala missense NM_001407690.1:c.443A>C NP_001394619.1:p.Glu148Ala missense NM_001407691.1:c.443A>C NP_001394620.1:p.Glu148Ala missense NM_001407692.1:c.305A>C NP_001394621.1:p.Glu102Ala missense NM_001407694.1:c.305A>C NP_001394623.1:p.Glu102Ala missense NM_001407695.1:c.305A>C NP_001394624.1:p.Glu102Ala missense NM_001407696.1:c.305A>C NP_001394625.1:p.Glu102Ala missense NM_001407697.1:c.305A>C NP_001394626.1:p.Glu102Ala missense NM_001407698.1:c.305A>C NP_001394627.1:p.Glu102Ala missense NM_001407724.1:c.305A>C NP_001394653.1:p.Glu102Ala missense NM_001407725.1:c.305A>C NP_001394654.1:p.Glu102Ala missense NM_001407726.1:c.305A>C NP_001394655.1:p.Glu102Ala missense NM_001407727.1:c.305A>C NP_001394656.1:p.Glu102Ala missense NM_001407728.1:c.305A>C NP_001394657.1:p.Glu102Ala missense NM_001407729.1:c.305A>C NP_001394658.1:p.Glu102Ala missense NM_001407730.1:c.305A>C NP_001394659.1:p.Glu102Ala missense NM_001407731.1:c.305A>C NP_001394660.1:p.Glu102Ala missense NM_001407732.1:c.305A>C NP_001394661.1:p.Glu102Ala missense NM_001407733.1:c.305A>C NP_001394662.1:p.Glu102Ala missense NM_001407734.1:c.305A>C NP_001394663.1:p.Glu102Ala missense NM_001407735.1:c.305A>C NP_001394664.1:p.Glu102Ala missense NM_001407736.1:c.305A>C NP_001394665.1:p.Glu102Ala missense NM_001407737.1:c.305A>C NP_001394666.1:p.Glu102Ala missense NM_001407738.1:c.305A>C NP_001394667.1:p.Glu102Ala missense NM_001407739.1:c.305A>C NP_001394668.1:p.Glu102Ala missense NM_001407740.1:c.302A>C NP_001394669.1:p.Glu101Ala missense NM_001407741.1:c.302A>C NP_001394670.1:p.Glu101Ala missense NM_001407742.1:c.302A>C NP_001394671.1:p.Glu101Ala missense NM_001407743.1:c.302A>C NP_001394672.1:p.Glu101Ala missense NM_001407744.1:c.302A>C NP_001394673.1:p.Glu101Ala missense NM_001407745.1:c.302A>C NP_001394674.1:p.Glu101Ala missense NM_001407746.1:c.302A>C NP_001394675.1:p.Glu101Ala missense NM_001407747.1:c.302A>C NP_001394676.1:p.Glu101Ala missense NM_001407748.1:c.302A>C NP_001394677.1:p.Glu101Ala missense NM_001407749.1:c.302A>C NP_001394678.1:p.Glu101Ala missense NM_001407750.1:c.305A>C NP_001394679.1:p.Glu102Ala missense NM_001407751.1:c.305A>C NP_001394680.1:p.Glu102Ala missense NM_001407752.1:c.305A>C NP_001394681.1:p.Glu102Ala missense NM_001407838.1:c.302A>C NP_001394767.1:p.Glu101Ala missense NM_001407839.1:c.302A>C NP_001394768.1:p.Glu101Ala missense NM_001407841.1:c.302A>C NP_001394770.1:p.Glu101Ala missense NM_001407842.1:c.302A>C NP_001394771.1:p.Glu101Ala missense NM_001407843.1:c.302A>C NP_001394772.1:p.Glu101Ala missense NM_001407844.1:c.302A>C NP_001394773.1:p.Glu101Ala missense NM_001407845.1:c.302A>C NP_001394774.1:p.Glu101Ala missense NM_001407846.1:c.302A>C NP_001394775.1:p.Glu101Ala missense NM_001407847.1:c.302A>C NP_001394776.1:p.Glu101Ala missense NM_001407848.1:c.302A>C NP_001394777.1:p.Glu101Ala missense NM_001407849.1:c.302A>C NP_001394778.1:p.Glu101Ala missense NM_001407850.1:c.305A>C NP_001394779.1:p.Glu102Ala missense NM_001407851.1:c.305A>C NP_001394780.1:p.Glu102Ala missense NM_001407852.1:c.305A>C NP_001394781.1:p.Glu102Ala missense NM_001407853.1:c.233A>C NP_001394782.1:p.Glu78Ala missense NM_001407854.1:c.446A>C NP_001394783.1:p.Glu149Ala missense NM_001407858.1:c.446A>C NP_001394787.1:p.Glu149Ala missense NM_001407859.1:c.446A>C NP_001394788.1:p.Glu149Ala missense NM_001407860.1:c.443A>C NP_001394789.1:p.Glu148Ala missense NM_001407861.1:c.443A>C NP_001394790.1:p.Glu148Ala missense NM_001407862.1:c.368A>C NP_001394791.1:p.Glu123Ala missense NM_001407863.1:c.446A>C NP_001394792.1:p.Glu149Ala missense NM_001407874.1:c.365A>C NP_001394803.1:p.Glu122Ala missense NM_001407875.1:c.365A>C NP_001394804.1:p.Glu122Ala missense NM_001407879.1:c.236A>C NP_001394808.1:p.Glu79Ala missense NM_001407881.1:c.236A>C NP_001394810.1:p.Glu79Ala missense NM_001407882.1:c.236A>C NP_001394811.1:p.Glu79Ala missense NM_001407884.1:c.236A>C NP_001394813.1:p.Glu79Ala missense NM_001407885.1:c.236A>C NP_001394814.1:p.Glu79Ala missense NM_001407886.1:c.236A>C NP_001394815.1:p.Glu79Ala missense NM_001407887.1:c.236A>C NP_001394816.1:p.Glu79Ala missense NM_001407889.1:c.236A>C NP_001394818.1:p.Glu79Ala missense NM_001407894.1:c.233A>C NP_001394823.1:p.Glu78Ala missense NM_001407895.1:c.233A>C NP_001394824.1:p.Glu78Ala missense NM_001407896.1:c.233A>C NP_001394825.1:p.Glu78Ala missense NM_001407897.1:c.233A>C NP_001394826.1:p.Glu78Ala missense NM_001407898.1:c.233A>C NP_001394827.1:p.Glu78Ala missense NM_001407899.1:c.233A>C NP_001394828.1:p.Glu78Ala missense NM_001407900.1:c.236A>C NP_001394829.1:p.Glu79Ala missense NM_001407902.1:c.236A>C NP_001394831.1:p.Glu79Ala missense NM_001407904.1:c.236A>C NP_001394833.1:p.Glu79Ala missense NM_001407906.1:c.236A>C NP_001394835.1:p.Glu79Ala missense NM_001407907.1:c.236A>C NP_001394836.1:p.Glu79Ala missense NM_001407908.1:c.236A>C NP_001394837.1:p.Glu79Ala missense NM_001407909.1:c.236A>C NP_001394838.1:p.Glu79Ala missense NM_001407910.1:c.236A>C NP_001394839.1:p.Glu79Ala missense NM_001407915.1:c.233A>C NP_001394844.1:p.Glu78Ala missense NM_001407916.1:c.233A>C NP_001394845.1:p.Glu78Ala missense NM_001407917.1:c.233A>C NP_001394846.1:p.Glu78Ala missense NM_001407918.1:c.233A>C NP_001394847.1:p.Glu78Ala missense NM_001407919.1:c.446A>C NP_001394848.1:p.Glu149Ala missense NM_001407920.1:c.305A>C NP_001394849.1:p.Glu102Ala missense NM_001407921.1:c.305A>C NP_001394850.1:p.Glu102Ala missense NM_001407922.1:c.305A>C NP_001394851.1:p.Glu102Ala missense NM_001407923.1:c.305A>C NP_001394852.1:p.Glu102Ala missense NM_001407924.1:c.305A>C NP_001394853.1:p.Glu102Ala missense NM_001407925.1:c.305A>C NP_001394854.1:p.Glu102Ala missense NM_001407926.1:c.305A>C NP_001394855.1:p.Glu102Ala missense NM_001407927.1:c.305A>C NP_001394856.1:p.Glu102Ala missense NM_001407928.1:c.305A>C NP_001394857.1:p.Glu102Ala missense NM_001407929.1:c.305A>C NP_001394858.1:p.Glu102Ala missense NM_001407930.1:c.302A>C NP_001394859.1:p.Glu101Ala missense NM_001407931.1:c.302A>C NP_001394860.1:p.Glu101Ala missense NM_001407932.1:c.302A>C NP_001394861.1:p.Glu101Ala missense NM_001407933.1:c.305A>C NP_001394862.1:p.Glu102Ala missense NM_001407934.1:c.302A>C NP_001394863.1:p.Glu101Ala missense NM_001407935.1:c.305A>C NP_001394864.1:p.Glu102Ala missense NM_001407936.1:c.302A>C NP_001394865.1:p.Glu101Ala missense NM_001407937.1:c.446A>C NP_001394866.1:p.Glu149Ala missense NM_001407938.1:c.446A>C NP_001394867.1:p.Glu149Ala missense NM_001407939.1:c.446A>C NP_001394868.1:p.Glu149Ala missense NM_001407940.1:c.443A>C NP_001394869.1:p.Glu148Ala missense NM_001407941.1:c.443A>C NP_001394870.1:p.Glu148Ala missense NM_001407942.1:c.305A>C NP_001394871.1:p.Glu102Ala missense NM_001407943.1:c.302A>C NP_001394872.1:p.Glu101Ala missense NM_001407944.1:c.305A>C NP_001394873.1:p.Glu102Ala missense NM_001407945.1:c.305A>C NP_001394874.1:p.Glu102Ala missense NM_001407946.1:c.236A>C NP_001394875.1:p.Glu79Ala missense NM_001407947.1:c.236A>C NP_001394876.1:p.Glu79Ala missense NM_001407948.1:c.236A>C NP_001394877.1:p.Glu79Ala missense NM_001407949.1:c.236A>C NP_001394878.1:p.Glu79Ala missense NM_001407950.1:c.236A>C NP_001394879.1:p.Glu79Ala missense NM_001407951.1:c.236A>C NP_001394880.1:p.Glu79Ala missense NM_001407952.1:c.236A>C NP_001394881.1:p.Glu79Ala missense NM_001407953.1:c.236A>C NP_001394882.1:p.Glu79Ala missense NM_001407954.1:c.233A>C NP_001394883.1:p.Glu78Ala missense NM_001407955.1:c.233A>C NP_001394884.1:p.Glu78Ala missense NM_001407956.1:c.233A>C NP_001394885.1:p.Glu78Ala missense NM_001407957.1:c.236A>C NP_001394886.1:p.Glu79Ala missense NM_001407958.1:c.233A>C NP_001394887.1:p.Glu78Ala missense NM_001407959.1:c.65A>C NP_001394888.1:p.Glu22Ala missense NM_001407960.1:c.65A>C NP_001394889.1:p.Glu22Ala missense NM_001407962.1:c.62A>C NP_001394891.1:p.Glu21Ala missense NM_001407963.1:c.65A>C NP_001394892.1:p.Glu22Ala missense NM_001407964.1:c.302A>C NP_001394893.1:p.Glu101Ala missense NM_001407965.1:c.65A>C NP_001394894.1:p.Glu22Ala missense NM_001407968.1:c.446A>C NP_001394897.1:p.Glu149Ala missense NM_001407969.1:c.446A>C NP_001394898.1:p.Glu149Ala missense NM_001407970.1:c.446A>C NP_001394899.1:p.Glu149Ala missense NM_001407971.1:c.446A>C NP_001394900.1:p.Glu149Ala missense NM_001407972.1:c.443A>C NP_001394901.1:p.Glu148Ala missense NM_001407973.1:c.446A>C NP_001394902.1:p.Glu149Ala missense NM_001407974.1:c.446A>C NP_001394903.1:p.Glu149Ala missense NM_001407975.1:c.446A>C NP_001394904.1:p.Glu149Ala missense NM_001407976.1:c.446A>C NP_001394905.1:p.Glu149Ala missense NM_001407977.1:c.446A>C NP_001394906.1:p.Glu149Ala missense NM_001407978.1:c.446A>C NP_001394907.1:p.Glu149Ala missense NM_001407979.1:c.446A>C NP_001394908.1:p.Glu149Ala missense NM_001407980.1:c.446A>C NP_001394909.1:p.Glu149Ala missense NM_001407981.1:c.446A>C NP_001394910.1:p.Glu149Ala missense NM_001407982.1:c.446A>C NP_001394911.1:p.Glu149Ala missense NM_001407983.1:c.446A>C NP_001394912.1:p.Glu149Ala missense NM_001407984.1:c.443A>C NP_001394913.1:p.Glu148Ala missense NM_001407985.1:c.443A>C NP_001394914.1:p.Glu148Ala missense NM_001407986.1:c.443A>C NP_001394915.1:p.Glu148Ala missense NM_001407990.1:c.446A>C NP_001394919.1:p.Glu149Ala missense NM_001407991.1:c.443A>C NP_001394920.1:p.Glu148Ala missense NM_001407992.1:c.443A>C NP_001394921.1:p.Glu148Ala missense NM_001407993.1:c.446A>C NP_001394922.1:p.Glu149Ala missense NM_001408392.1:c.443A>C NP_001395321.1:p.Glu148Ala missense NM_001408396.1:c.443A>C NP_001395325.1:p.Glu148Ala missense NM_001408397.1:c.443A>C NP_001395326.1:p.Glu148Ala missense NM_001408398.1:c.443A>C NP_001395327.1:p.Glu148Ala missense NM_001408399.1:c.443A>C NP_001395328.1:p.Glu148Ala missense NM_001408400.1:c.443A>C NP_001395329.1:p.Glu148Ala missense NM_001408401.1:c.443A>C NP_001395330.1:p.Glu148Ala missense NM_001408402.1:c.443A>C NP_001395331.1:p.Glu148Ala missense NM_001408403.1:c.446A>C NP_001395332.1:p.Glu149Ala missense NM_001408404.1:c.446A>C NP_001395333.1:p.Glu149Ala missense NM_001408406.1:c.446A>C NP_001395335.1:p.Glu149Ala missense NM_001408407.1:c.443A>C NP_001395336.1:p.Glu148Ala missense NM_001408408.1:c.437A>C NP_001395337.1:p.Glu146Ala missense NM_001408409.1:c.368A>C NP_001395338.1:p.Glu123Ala missense NM_001408410.1:c.305A>C NP_001395339.1:p.Glu102Ala missense NM_001408411.1:c.368A>C NP_001395340.1:p.Glu123Ala missense NM_001408412.1:c.368A>C NP_001395341.1:p.Glu123Ala missense NM_001408413.1:c.365A>C NP_001395342.1:p.Glu122Ala missense NM_001408414.1:c.368A>C NP_001395343.1:p.Glu123Ala missense NM_001408415.1:c.368A>C NP_001395344.1:p.Glu123Ala missense NM_001408416.1:c.365A>C NP_001395345.1:p.Glu122Ala missense NM_001408418.1:c.446A>C NP_001395347.1:p.Glu149Ala missense NM_001408419.1:c.446A>C NP_001395348.1:p.Glu149Ala missense NM_001408420.1:c.446A>C NP_001395349.1:p.Glu149Ala missense NM_001408421.1:c.443A>C NP_001395350.1:p.Glu148Ala missense NM_001408422.1:c.446A>C NP_001395351.1:p.Glu149Ala missense NM_001408423.1:c.446A>C NP_001395352.1:p.Glu149Ala missense NM_001408424.1:c.443A>C NP_001395353.1:p.Glu148Ala missense NM_001408425.1:c.446A>C NP_001395354.1:p.Glu149Ala missense NM_001408426.1:c.446A>C NP_001395355.1:p.Glu149Ala missense NM_001408427.1:c.446A>C NP_001395356.1:p.Glu149Ala missense NM_001408428.1:c.446A>C NP_001395357.1:p.Glu149Ala missense NM_001408429.1:c.446A>C NP_001395358.1:p.Glu149Ala missense NM_001408430.1:c.446A>C NP_001395359.1:p.Glu149Ala missense NM_001408431.1:c.443A>C NP_001395360.1:p.Glu148Ala missense NM_001408432.1:c.443A>C NP_001395361.1:p.Glu148Ala missense NM_001408433.1:c.443A>C NP_001395362.1:p.Glu148Ala missense NM_001408434.1:c.443A>C NP_001395363.1:p.Glu148Ala missense NM_001408435.1:c.443A>C NP_001395364.1:p.Glu148Ala missense NM_001408436.1:c.446A>C NP_001395365.1:p.Glu149Ala missense NM_001408437.1:c.446A>C NP_001395366.1:p.Glu149Ala missense NM_001408438.1:c.446A>C NP_001395367.1:p.Glu149Ala missense NM_001408439.1:c.446A>C NP_001395368.1:p.Glu149Ala missense NM_001408440.1:c.446A>C NP_001395369.1:p.Glu149Ala missense NM_001408441.1:c.446A>C NP_001395370.1:p.Glu149Ala missense NM_001408442.1:c.446A>C NP_001395371.1:p.Glu149Ala missense NM_001408443.1:c.446A>C NP_001395372.1:p.Glu149Ala missense NM_001408444.1:c.446A>C NP_001395373.1:p.Glu149Ala missense NM_001408445.1:c.443A>C NP_001395374.1:p.Glu148Ala missense NM_001408446.1:c.443A>C NP_001395375.1:p.Glu148Ala missense NM_001408447.1:c.443A>C NP_001395376.1:p.Glu148Ala missense NM_001408448.1:c.443A>C NP_001395377.1:p.Glu148Ala missense NM_001408450.1:c.443A>C NP_001395379.1:p.Glu148Ala missense NM_001408451.1:c.311A>C NP_001395380.1:p.Glu104Ala missense NM_001408452.1:c.305A>C NP_001395381.1:p.Glu102Ala missense NM_001408453.1:c.305A>C NP_001395382.1:p.Glu102Ala missense NM_001408454.1:c.305A>C NP_001395383.1:p.Glu102Ala missense NM_001408455.1:c.305A>C NP_001395384.1:p.Glu102Ala missense NM_001408456.1:c.305A>C NP_001395385.1:p.Glu102Ala missense NM_001408457.1:c.305A>C NP_001395386.1:p.Glu102Ala missense NM_001408458.1:c.305A>C NP_001395387.1:p.Glu102Ala missense NM_001408459.1:c.305A>C NP_001395388.1:p.Glu102Ala missense NM_001408460.1:c.305A>C NP_001395389.1:p.Glu102Ala missense NM_001408461.1:c.305A>C NP_001395390.1:p.Glu102Ala missense NM_001408462.1:c.302A>C NP_001395391.1:p.Glu101Ala missense NM_001408463.1:c.302A>C NP_001395392.1:p.Glu101Ala missense NM_001408464.1:c.302A>C NP_001395393.1:p.Glu101Ala missense NM_001408465.1:c.302A>C NP_001395394.1:p.Glu101Ala missense NM_001408466.1:c.305A>C NP_001395395.1:p.Glu102Ala missense NM_001408467.1:c.305A>C NP_001395396.1:p.Glu102Ala missense NM_001408468.1:c.302A>C NP_001395397.1:p.Glu101Ala missense NM_001408469.1:c.305A>C NP_001395398.1:p.Glu102Ala missense NM_001408470.1:c.302A>C NP_001395399.1:p.Glu101Ala missense NM_001408472.1:c.446A>C NP_001395401.1:p.Glu149Ala missense NM_001408473.1:c.443A>C NP_001395402.1:p.Glu148Ala missense NM_001408474.1:c.368A>C NP_001395403.1:p.Glu123Ala missense NM_001408475.1:c.365A>C NP_001395404.1:p.Glu122Ala missense NM_001408476.1:c.368A>C NP_001395405.1:p.Glu123Ala missense NM_001408478.1:c.236A>C NP_001395407.1:p.Glu79Ala missense NM_001408479.1:c.236A>C NP_001395408.1:p.Glu79Ala missense NM_001408480.1:c.236A>C NP_001395409.1:p.Glu79Ala missense NM_001408481.1:c.236A>C NP_001395410.1:p.Glu79Ala missense NM_001408482.1:c.236A>C NP_001395411.1:p.Glu79Ala missense NM_001408483.1:c.236A>C NP_001395412.1:p.Glu79Ala missense NM_001408484.1:c.236A>C NP_001395413.1:p.Glu79Ala missense NM_001408485.1:c.236A>C NP_001395414.1:p.Glu79Ala missense NM_001408489.1:c.236A>C NP_001395418.1:p.Glu79Ala missense NM_001408490.1:c.233A>C NP_001395419.1:p.Glu78Ala missense NM_001408491.1:c.233A>C NP_001395420.1:p.Glu78Ala missense NM_001408492.1:c.236A>C NP_001395421.1:p.Glu79Ala missense NM_001408493.1:c.233A>C NP_001395422.1:p.Glu78Ala missense NM_001408494.1:c.446A>C NP_001395423.1:p.Glu149Ala missense NM_001408495.1:c.443A>C NP_001395424.1:p.Glu148Ala missense NM_001408496.1:c.305A>C NP_001395425.1:p.Glu102Ala missense NM_001408497.1:c.305A>C NP_001395426.1:p.Glu102Ala missense NM_001408498.1:c.305A>C NP_001395427.1:p.Glu102Ala missense NM_001408499.1:c.305A>C NP_001395428.1:p.Glu102Ala missense NM_001408500.1:c.305A>C NP_001395429.1:p.Glu102Ala missense NM_001408501.1:c.305A>C NP_001395430.1:p.Glu102Ala missense NM_001408502.1:c.236A>C NP_001395431.1:p.Glu79Ala missense NM_001408503.1:c.302A>C NP_001395432.1:p.Glu101Ala missense NM_001408504.1:c.302A>C NP_001395433.1:p.Glu101Ala missense NM_001408505.1:c.302A>C NP_001395434.1:p.Glu101Ala missense NM_001408506.1:c.236A>C NP_001395435.1:p.Glu79Ala missense NM_001408507.1:c.236A>C NP_001395436.1:p.Glu79Ala missense NM_001408508.1:c.233A>C NP_001395437.1:p.Glu78Ala missense NM_001408509.1:c.233A>C NP_001395438.1:p.Glu78Ala missense NM_001408510.1:c.65A>C NP_001395439.1:p.Glu22Ala missense NM_001408511.1:c.302A>C NP_001395440.1:p.Glu101Ala missense NM_001408512.1:c.65A>C NP_001395441.1:p.Glu22Ala missense NM_001408513.1:c.236A>C NP_001395442.1:p.Glu79Ala missense NM_001408514.1:c.236A>C NP_001395443.1:p.Glu79Ala missense NM_007297.4:c.305A>C NP_009228.2:p.Glu102Ala missense NM_007298.4:c.446A>C NP_009229.2:p.Glu149Ala missense NM_007299.4:c.446A>C NP_009230.2:p.Glu149Ala missense NM_007300.4:c.446A>C NP_009231.2:p.Glu149Ala missense NM_007304.2:c.446A>C NP_009235.2:p.Glu149Ala missense NR_027676.2:n.623A>C non-coding transcript variant NC_000017.11:g.43099876T>G NC_000017.10:g.41251893T>G NG_005905.2:g.118108A>C LRG_292:g.118108A>C LRG_292t1:c.446A>C LRG_292p1:p.Glu149Ala - Protein change
- E149A, E102A, E22A, E79A, E146A, E148A, E101A, E123A, E21A, E104A, E122A, E78A
- Other names
- 565A>C
- Canonical SPDI
- NC_000017.11:43099875:T:G
-
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.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00005
Exome Aggregation Consortium (ExAC) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00001
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 |
13029 | 14833 |
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 (2) |
no assertion criteria provided
|
Sep 1, 2023 | RCV000031175.7 | |
Benign/Likely benign (2) |
criteria provided, multiple submitters, no conflicts
|
Jul 16, 2020 | RCV000219296.8 | |
Likely benign (1) |
criteria provided, single submitter
|
Jan 5, 2024 | RCV000458634.12 | |
Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
|
Jun 3, 2022 | RCV000479398.14 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Nov 1, 2015 | RCV000240737.3 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Oct 31, 2018 | RCV000764128.4 | |
Uncertain significance (1) |
no assertion criteria provided
|
- | RCV001357250.4 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
|
Sep 26, 2023 | RCV002267803.7 | |
BRCA1-related disorder
|
Likely benign (1) |
no assertion criteria provided
|
Jun 14, 2024 | RCV004758612.1 |
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. |
|
---|---|---|---|---|---|
Uncertain significance
(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: SCV002551057.4
First in ClinVar: Jul 30, 2022 Last updated: Aug 18, 2023 |
|
|
Likely benign
(Sep 26, 2023)
|
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: SCV004100168.1
First in ClinVar: Nov 04, 2023 Last updated: Nov 04, 2023 |
Comment:
Variant summary: BRCA1 c.446A>C (p.Glu149Ala) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging … (more)
Variant summary: BRCA1 c.446A>C (p.Glu149Ala) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 5.2e-05 in 251420 control chromosomes, predominantly at a frequency of 0.0006 within the East Asian subpopulation in the gnomAD database. This frequency is not significantly higher than estimated for a pathogenic variant in BRCA1 causing Hereditary Breast And Ovarian Cancer Syndrome (5.2e-05 vs 0.001), allowing no conclusion about variant significance. c.446A>C has been reported in the literature in individuals affected with early-onset breast cancer, colorectal cancer with suspected Lynch syndrome, stomach adenocarcinoma, and thoracic cancer, all without evidence of causality and often reported as VUS or benign (e.g. Lu_2015, Xu_2020, Wei_2018, Shen_2019, Zhong_2016, Tsang_2023). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. At least one publication reports experimental evidence evaluating an impact on protein function (e.g. Lu_2015). These results showed no damaging effect of this variant in an HDR assay. The following publications have been ascertained in the context of this evaluation (PMID: 26689913, 35116780, 36964191, 29805665, 32548945, 27257965). Eight submitters have cited clinical-significance assessments for this variant to ClinVar after 2014, classifying the variant as benign (n=1), likely benign (n=3), or uncertain significance (n=4). Based on the evidence outlined above, the variant was classified as likely benign. (less)
|
|
Likely benign
(Jan 05, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000549301.10
First in ClinVar: Apr 17, 2017 Last updated: Feb 20, 2024 |
|
|
Uncertain significance
(Nov 01, 2015)
|
criteria provided, single submitter
Method: research
|
Breast neoplasm
Affected status: yes
Allele origin:
germline
|
Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University
Additional submitter:
Asia and Emerging Markets iMed, AstraZeneca
Accession: SCV000265873.1
First in ClinVar: Sep 14, 2016 Last updated: Sep 14, 2016 |
Number of individuals with the variant: 1
Geographic origin: China
|
|
Likely benign
(Dec 26, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV002047334.1
First in ClinVar: Jan 03, 2022 Last updated: Jan 03, 2022 |
|
|
Uncertain significance
(Oct 31, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV000895101.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
|
|
Likely benign
(Apr 19, 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: SCV000910906.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
|
|
Uncertain significance
(Jun 03, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000570422.7
First in ClinVar: Apr 29, 2017 Last updated: Mar 04, 2023 |
Comment:
In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Published functional study demonstrates no significant difference compared to wild type … (more)
In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Published functional study demonstrates no significant difference compared to wild type in a homologous directed repair assay (Lu 2015); Also known as 565A>C; This variant is associated with the following publications: (PMID: 29805665, 27257965, 22116506, 20215511, 30702160, 31825140, 35116780, 32467295, 32548945, 26689913) (less)
|
|
Benign
(Jul 16, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000274232.5
First in ClinVar: May 29, 2016 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)
|
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Likely benign
(Jun 14, 2024)
|
no assertion criteria provided
Method: clinical testing
|
BRCA1-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV005355800.1
First in ClinVar: Oct 08, 2024 Last updated: Oct 08, 2024 |
Comment:
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
|
|
Likely benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001800200.1 First in ClinVar: Aug 21, 2021 Last updated: Aug 21, 2021 |
|
|
Uncertain significance
(-)
|
no assertion criteria provided
Method: clinical testing
|
Malignant tumor of breast
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: SCV001552666.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The BRCA1 p.Glu149Ala variant was identified in 2 of 1302 proband chromosomes (frequency: 0.002) from Chinese individuals or families with sporadic breast cancer (Zhong_2016_27257965, Zhang_2012_ … (more)
The BRCA1 p.Glu149Ala variant was identified in 2 of 1302 proband chromosomes (frequency: 0.002) from Chinese individuals or families with sporadic breast cancer (Zhong_2016_27257965, Zhang_2012_ 22116506). A functional validation study of BRCA1 missense variants using a HDR assay in triplicate found the variant’s HDR ability was not impaired (not significant) (Lu_2015_26689913). The variant was also identified in dbSNP (ID: rs397507233) “With Uncertain significance allele”, ClinVar (classified as uncertain significance by Laboratory for Molecular Diagnosis of Cancer (West China Hospital, Sichuan University), Ambry Genetics, Inivitae, GeneDx and SCRP), Clinvitae (5x), and UMD-LSDB (4x 3-UV), and was not identified in GeneInsight-COGR, Cosmic, MutDB, LOVD 3.0, BIC Database, ARUP Laboratories or Zhejiang Colon Cancer Database. The variant was identified in control databases in 14 of 277160 chromosomes at a frequency of 0.00005 (Genome Aggregation Database Feb 27, 2017), observed in the following populations: Other in 1 of 6464 chromosomes (freq: 0.0002), Latino in 1 of 34418 chromosomes (freq: 0.00003) and East Asian in 12 of 18870 chromosomes (freq: 0.0006) while not observed in the African, European Non-Finnish, Ashkenazi Jewish, European Finnish, and South Asian populations. The p.Glu149 residue is not conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact of Ala to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and 1 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. (less)
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Uncertain significance
(Sep 04, 2008)
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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: SCV000053775.3
First in ClinVar: Apr 04, 2013 Last updated: Sep 27, 2014 |
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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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: SCV001951789.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Benign
(Sep 01, 2023)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Department of Medical and Surgical Sciences, University of Bologna
Accession: SCV004228315.1
First in ClinVar: Jan 26, 2024 Last updated: Jan 26, 2024 |
Comment:
BS1(Strong)+BP1(Strong) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)
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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 |
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Homologous recombination deficiency signatures in gastrointestinal and thoracic cancers correlate with platinum therapy duration. | Tsang ES | NPJ precision oncology | 2023 | PMID: 36964191 |
Comparison of suspected Lynch syndrome patients carrying BRCA and BRCA-like variants with Lynch syndrome probands: Phenotypic characteristics and pedigree analyses. | Xu Y | Molecular genetics & genomic medicine | 2020 | PMID: 32548945 |
BRCA1/2 mutation spectrum in Chinese early-onset breast cancer. | Shen M | Translational cancer research | 2019 | PMID: 35116780 |
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients. | Bhaskaran SP | International journal of cancer | 2019 | PMID: 30702160 |
Multicenter cross-sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations. | Wei H | Oncology letters | 2018 | PMID: 29805665 |
Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. | Zhong X | PloS one | 2016 | PMID: 27257965 |
Patterns and functional implications of rare germline variants across 12 cancer types. | Lu C | Nature communications | 2015 | PMID: 26689913 |
Somatic mutations in the BRCA1 gene in Chinese women with sporadic breast cancer. | Zhang M | Breast cancer research and treatment | 2012 | PMID: 22116506 |
Text-mined citations for rs397507233 ...
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.