Variant summary: BRCA1 c.2006T>C (p.Met669Thr) results in a non-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 7.6e-05 in 262638 control chromosomes (gnomAD, Dong_2021). This frequency is not significantly higher than estimated for a pathogenic variant in BRCA1 causing Hereditary Breast And Ovarian Cancer Syndrome (7.6e-05 vs 0.001), allowing no conclusion about variant significance. c.2006T>C has been reported in the literature in individuals affected with Breast Cancer (e.g. Sun_2014) and Prostate Cancer (e.g. Tang_2022). These reports 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 publications have been ascertained in the context of this evaluation (PMID: 32467295, 33087888, 25337278, 35734583). Eight ClinVar submitters have assessed the variant since 2014: one classified the variant as uncertain significance, five as likely benign, and two as benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)
Germline
Classification
Help
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.
(14)
Help
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.
Conflicting classifications of pathogenicity
Uncertain significance(2); Benign(2); Likely benign(6)
Uncertain significance(2); Benign(2); Likely benign(6)
14
criteria provided, conflicting classifications
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)
Variation ID: 37442 Accession: VCV000037442.26
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093525 (GRCh38) [ NCBI UCSC ] 17: 41245542 (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 Dec 27, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.2006T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Met669Thr missense NM_001407571.1:c.1793T>C NP_001394500.1:p.Met598Thr missense NM_001407581.1:c.2006T>C NP_001394510.1:p.Met669Thr missense NM_001407582.1:c.2006T>C NP_001394511.1:p.Met669Thr missense NM_001407583.1:c.2006T>C NP_001394512.1:p.Met669Thr missense NM_001407585.1:c.2006T>C NP_001394514.1:p.Met669Thr missense NM_001407587.1:c.2003T>C NP_001394516.1:p.Met668Thr missense NM_001407590.1:c.2003T>C NP_001394519.1:p.Met668Thr missense NM_001407591.1:c.2003T>C NP_001394520.1:p.Met668Thr missense NM_001407593.1:c.2006T>C NP_001394522.1:p.Met669Thr missense NM_001407594.1:c.2006T>C NP_001394523.1:p.Met669Thr missense NM_001407596.1:c.2006T>C NP_001394525.1:p.Met669Thr missense NM_001407597.1:c.2006T>C NP_001394526.1:p.Met669Thr missense NM_001407598.1:c.2006T>C NP_001394527.1:p.Met669Thr missense NM_001407602.1:c.2006T>C NP_001394531.1:p.Met669Thr missense NM_001407603.1:c.2006T>C NP_001394532.1:p.Met669Thr missense NM_001407605.1:c.2006T>C NP_001394534.1:p.Met669Thr missense NM_001407610.1:c.2003T>C NP_001394539.1:p.Met668Thr missense NM_001407611.1:c.2003T>C NP_001394540.1:p.Met668Thr missense NM_001407612.1:c.2003T>C NP_001394541.1:p.Met668Thr missense NM_001407613.1:c.2003T>C NP_001394542.1:p.Met668Thr missense NM_001407614.1:c.2003T>C NP_001394543.1:p.Met668Thr missense NM_001407615.1:c.2003T>C NP_001394544.1:p.Met668Thr missense NM_001407616.1:c.2006T>C NP_001394545.1:p.Met669Thr missense NM_001407617.1:c.2006T>C NP_001394546.1:p.Met669Thr missense NM_001407618.1:c.2006T>C NP_001394547.1:p.Met669Thr missense NM_001407619.1:c.2006T>C NP_001394548.1:p.Met669Thr missense NM_001407620.1:c.2006T>C NP_001394549.1:p.Met669Thr missense NM_001407621.1:c.2006T>C NP_001394550.1:p.Met669Thr missense NM_001407622.1:c.2006T>C NP_001394551.1:p.Met669Thr missense NM_001407623.1:c.2006T>C NP_001394552.1:p.Met669Thr missense NM_001407624.1:c.2006T>C NP_001394553.1:p.Met669Thr missense NM_001407625.1:c.2006T>C NP_001394554.1:p.Met669Thr missense NM_001407626.1:c.2006T>C NP_001394555.1:p.Met669Thr missense NM_001407627.1:c.2003T>C NP_001394556.1:p.Met668Thr missense NM_001407628.1:c.2003T>C NP_001394557.1:p.Met668Thr missense NM_001407629.1:c.2003T>C NP_001394558.1:p.Met668Thr missense NM_001407630.1:c.2003T>C NP_001394559.1:p.Met668Thr missense NM_001407631.1:c.2003T>C NP_001394560.1:p.Met668Thr missense NM_001407632.1:c.2003T>C NP_001394561.1:p.Met668Thr missense NM_001407633.1:c.2003T>C NP_001394562.1:p.Met668Thr missense NM_001407634.1:c.2003T>C NP_001394563.1:p.Met668Thr missense NM_001407635.1:c.2003T>C NP_001394564.1:p.Met668Thr missense NM_001407636.1:c.2003T>C NP_001394565.1:p.Met668Thr missense NM_001407637.1:c.2003T>C NP_001394566.1:p.Met668Thr missense NM_001407638.1:c.2003T>C NP_001394567.1:p.Met668Thr missense NM_001407639.1:c.2006T>C NP_001394568.1:p.Met669Thr missense NM_001407640.1:c.2006T>C NP_001394569.1:p.Met669Thr missense NM_001407641.1:c.2006T>C NP_001394570.1:p.Met669Thr missense NM_001407642.1:c.2006T>C NP_001394571.1:p.Met669Thr missense NM_001407644.1:c.2003T>C NP_001394573.1:p.Met668Thr missense NM_001407645.1:c.2003T>C NP_001394574.1:p.Met668Thr missense NM_001407646.1:c.1997T>C NP_001394575.1:p.Met666Thr missense NM_001407647.1:c.1997T>C NP_001394576.1:p.Met666Thr missense NM_001407648.1:c.1883T>C NP_001394577.1:p.Met628Thr missense NM_001407649.1:c.1880T>C NP_001394578.1:p.Met627Thr missense NM_001407652.1:c.2006T>C NP_001394581.1:p.Met669Thr missense NM_001407653.1:c.1928T>C NP_001394582.1:p.Met643Thr missense NM_001407654.1:c.1928T>C NP_001394583.1:p.Met643Thr missense NM_001407655.1:c.1928T>C NP_001394584.1:p.Met643Thr missense NM_001407656.1:c.1928T>C NP_001394585.1:p.Met643Thr missense NM_001407657.1:c.1928T>C NP_001394586.1:p.Met643Thr missense NM_001407658.1:c.1928T>C NP_001394587.1:p.Met643Thr missense NM_001407659.1:c.1925T>C NP_001394588.1:p.Met642Thr missense NM_001407660.1:c.1925T>C NP_001394589.1:p.Met642Thr missense NM_001407661.1:c.1925T>C NP_001394590.1:p.Met642Thr missense NM_001407662.1:c.1925T>C NP_001394591.1:p.Met642Thr missense NM_001407663.1:c.1928T>C NP_001394592.1:p.Met643Thr missense NM_001407664.1:c.1883T>C NP_001394593.1:p.Met628Thr missense NM_001407665.1:c.1883T>C NP_001394594.1:p.Met628Thr missense NM_001407666.1:c.1883T>C NP_001394595.1:p.Met628Thr missense NM_001407667.1:c.1883T>C NP_001394596.1:p.Met628Thr missense NM_001407668.1:c.1883T>C NP_001394597.1:p.Met628Thr missense NM_001407669.1:c.1883T>C NP_001394598.1:p.Met628Thr missense NM_001407670.1:c.1880T>C NP_001394599.1:p.Met627Thr missense NM_001407671.1:c.1880T>C NP_001394600.1:p.Met627Thr missense NM_001407672.1:c.1880T>C NP_001394601.1:p.Met627Thr missense NM_001407673.1:c.1880T>C NP_001394602.1:p.Met627Thr missense NM_001407674.1:c.1883T>C NP_001394603.1:p.Met628Thr missense NM_001407675.1:c.1883T>C NP_001394604.1:p.Met628Thr missense NM_001407676.1:c.1883T>C NP_001394605.1:p.Met628Thr missense NM_001407677.1:c.1883T>C NP_001394606.1:p.Met628Thr missense NM_001407678.1:c.1883T>C NP_001394607.1:p.Met628Thr missense NM_001407679.1:c.1883T>C NP_001394608.1:p.Met628Thr missense NM_001407680.1:c.1883T>C NP_001394609.1:p.Met628Thr missense NM_001407681.1:c.1883T>C NP_001394610.1:p.Met628Thr missense NM_001407682.1:c.1883T>C NP_001394611.1:p.Met628Thr missense NM_001407683.1:c.1883T>C NP_001394612.1:p.Met628Thr missense NM_001407684.1:c.2006T>C NP_001394613.1:p.Met669Thr missense NM_001407685.1:c.1880T>C NP_001394614.1:p.Met627Thr missense NM_001407686.1:c.1880T>C NP_001394615.1:p.Met627Thr missense NM_001407687.1:c.1880T>C NP_001394616.1:p.Met627Thr missense NM_001407688.1:c.1880T>C NP_001394617.1:p.Met627Thr missense NM_001407689.1:c.1880T>C NP_001394618.1:p.Met627Thr missense NM_001407690.1:c.1880T>C NP_001394619.1:p.Met627Thr missense NM_001407691.1:c.1880T>C NP_001394620.1:p.Met627Thr missense NM_001407692.1:c.1865T>C NP_001394621.1:p.Met622Thr missense NM_001407694.1:c.1865T>C NP_001394623.1:p.Met622Thr missense NM_001407695.1:c.1865T>C NP_001394624.1:p.Met622Thr missense NM_001407696.1:c.1865T>C NP_001394625.1:p.Met622Thr missense NM_001407697.1:c.1865T>C NP_001394626.1:p.Met622Thr missense NM_001407698.1:c.1865T>C NP_001394627.1:p.Met622Thr missense NM_001407724.1:c.1865T>C NP_001394653.1:p.Met622Thr missense NM_001407725.1:c.1865T>C NP_001394654.1:p.Met622Thr missense NM_001407726.1:c.1865T>C NP_001394655.1:p.Met622Thr missense NM_001407727.1:c.1865T>C NP_001394656.1:p.Met622Thr missense NM_001407728.1:c.1865T>C NP_001394657.1:p.Met622Thr missense NM_001407729.1:c.1865T>C NP_001394658.1:p.Met622Thr missense NM_001407730.1:c.1865T>C NP_001394659.1:p.Met622Thr missense NM_001407731.1:c.1865T>C NP_001394660.1:p.Met622Thr missense NM_001407732.1:c.1865T>C NP_001394661.1:p.Met622Thr missense NM_001407733.1:c.1865T>C NP_001394662.1:p.Met622Thr missense NM_001407734.1:c.1865T>C NP_001394663.1:p.Met622Thr missense NM_001407735.1:c.1865T>C NP_001394664.1:p.Met622Thr missense NM_001407736.1:c.1865T>C NP_001394665.1:p.Met622Thr missense NM_001407737.1:c.1865T>C NP_001394666.1:p.Met622Thr missense NM_001407738.1:c.1865T>C NP_001394667.1:p.Met622Thr missense NM_001407739.1:c.1865T>C NP_001394668.1:p.Met622Thr missense NM_001407740.1:c.1862T>C NP_001394669.1:p.Met621Thr missense NM_001407741.1:c.1862T>C NP_001394670.1:p.Met621Thr missense NM_001407742.1:c.1862T>C NP_001394671.1:p.Met621Thr missense NM_001407743.1:c.1862T>C NP_001394672.1:p.Met621Thr missense NM_001407744.1:c.1862T>C NP_001394673.1:p.Met621Thr missense NM_001407745.1:c.1862T>C NP_001394674.1:p.Met621Thr missense NM_001407746.1:c.1862T>C NP_001394675.1:p.Met621Thr missense NM_001407747.1:c.1862T>C NP_001394676.1:p.Met621Thr missense NM_001407748.1:c.1862T>C NP_001394677.1:p.Met621Thr missense NM_001407749.1:c.1862T>C NP_001394678.1:p.Met621Thr missense NM_001407750.1:c.1865T>C NP_001394679.1:p.Met622Thr missense NM_001407751.1:c.1865T>C NP_001394680.1:p.Met622Thr missense NM_001407752.1:c.1865T>C NP_001394681.1:p.Met622Thr missense NM_001407838.1:c.1862T>C NP_001394767.1:p.Met621Thr missense NM_001407839.1:c.1862T>C NP_001394768.1:p.Met621Thr missense NM_001407841.1:c.1862T>C NP_001394770.1:p.Met621Thr missense NM_001407842.1:c.1862T>C NP_001394771.1:p.Met621Thr missense NM_001407843.1:c.1862T>C NP_001394772.1:p.Met621Thr missense NM_001407844.1:c.1862T>C NP_001394773.1:p.Met621Thr missense NM_001407845.1:c.1862T>C NP_001394774.1:p.Met621Thr missense NM_001407846.1:c.1862T>C NP_001394775.1:p.Met621Thr missense NM_001407847.1:c.1862T>C NP_001394776.1:p.Met621Thr missense NM_001407848.1:c.1862T>C NP_001394777.1:p.Met621Thr missense NM_001407849.1:c.1862T>C NP_001394778.1:p.Met621Thr missense NM_001407850.1:c.1865T>C NP_001394779.1:p.Met622Thr missense NM_001407851.1:c.1865T>C NP_001394780.1:p.Met622Thr missense NM_001407852.1:c.1865T>C NP_001394781.1:p.Met622Thr missense NM_001407853.1:c.1793T>C NP_001394782.1:p.Met598Thr missense NM_001407854.1:c.2006T>C NP_001394783.1:p.Met669Thr missense NM_001407858.1:c.2006T>C NP_001394787.1:p.Met669Thr missense NM_001407859.1:c.2006T>C NP_001394788.1:p.Met669Thr missense NM_001407860.1:c.2003T>C NP_001394789.1:p.Met668Thr missense NM_001407861.1:c.2003T>C NP_001394790.1:p.Met668Thr missense NM_001407862.1:c.1805T>C NP_001394791.1:p.Met602Thr missense NM_001407863.1:c.1883T>C NP_001394792.1:p.Met628Thr missense NM_001407874.1:c.1802T>C NP_001394803.1:p.Met601Thr missense NM_001407875.1:c.1802T>C NP_001394804.1:p.Met601Thr missense NM_001407879.1:c.1796T>C NP_001394808.1:p.Met599Thr missense NM_001407881.1:c.1796T>C NP_001394810.1:p.Met599Thr missense NM_001407882.1:c.1796T>C NP_001394811.1:p.Met599Thr missense NM_001407884.1:c.1796T>C NP_001394813.1:p.Met599Thr missense NM_001407885.1:c.1796T>C NP_001394814.1:p.Met599Thr missense NM_001407886.1:c.1796T>C NP_001394815.1:p.Met599Thr missense NM_001407887.1:c.1796T>C NP_001394816.1:p.Met599Thr missense NM_001407889.1:c.1796T>C NP_001394818.1:p.Met599Thr missense NM_001407894.1:c.1793T>C NP_001394823.1:p.Met598Thr missense NM_001407895.1:c.1793T>C NP_001394824.1:p.Met598Thr missense NM_001407896.1:c.1793T>C NP_001394825.1:p.Met598Thr missense NM_001407897.1:c.1793T>C NP_001394826.1:p.Met598Thr missense NM_001407898.1:c.1793T>C NP_001394827.1:p.Met598Thr missense NM_001407899.1:c.1793T>C NP_001394828.1:p.Met598Thr missense NM_001407900.1:c.1796T>C NP_001394829.1:p.Met599Thr missense NM_001407902.1:c.1796T>C NP_001394831.1:p.Met599Thr missense NM_001407904.1:c.1796T>C NP_001394833.1:p.Met599Thr missense NM_001407906.1:c.1796T>C NP_001394835.1:p.Met599Thr missense NM_001407907.1:c.1796T>C NP_001394836.1:p.Met599Thr missense NM_001407908.1:c.1796T>C NP_001394837.1:p.Met599Thr missense NM_001407909.1:c.1796T>C NP_001394838.1:p.Met599Thr missense NM_001407910.1:c.1796T>C NP_001394839.1:p.Met599Thr missense NM_001407915.1:c.1793T>C NP_001394844.1:p.Met598Thr missense NM_001407916.1:c.1793T>C NP_001394845.1:p.Met598Thr missense NM_001407917.1:c.1793T>C NP_001394846.1:p.Met598Thr missense NM_001407918.1:c.1793T>C NP_001394847.1:p.Met598Thr missense NM_001407919.1:c.1883T>C NP_001394848.1:p.Met628Thr missense NM_001407920.1:c.1742T>C NP_001394849.1:p.Met581Thr missense NM_001407921.1:c.1742T>C NP_001394850.1:p.Met581Thr missense NM_001407922.1:c.1742T>C NP_001394851.1:p.Met581Thr missense NM_001407923.1:c.1742T>C NP_001394852.1:p.Met581Thr missense NM_001407924.1:c.1742T>C NP_001394853.1:p.Met581Thr missense NM_001407925.1:c.1742T>C NP_001394854.1:p.Met581Thr missense NM_001407926.1:c.1742T>C NP_001394855.1:p.Met581Thr missense NM_001407927.1:c.1742T>C NP_001394856.1:p.Met581Thr missense NM_001407928.1:c.1742T>C NP_001394857.1:p.Met581Thr missense NM_001407929.1:c.1742T>C NP_001394858.1:p.Met581Thr missense NM_001407930.1:c.1739T>C NP_001394859.1:p.Met580Thr missense NM_001407931.1:c.1739T>C NP_001394860.1:p.Met580Thr missense NM_001407932.1:c.1739T>C NP_001394861.1:p.Met580Thr missense NM_001407933.1:c.1742T>C NP_001394862.1:p.Met581Thr missense NM_001407934.1:c.1739T>C NP_001394863.1:p.Met580Thr missense NM_001407935.1:c.1742T>C NP_001394864.1:p.Met581Thr missense NM_001407936.1:c.1739T>C NP_001394865.1:p.Met580Thr missense NM_001407937.1:c.1883T>C NP_001394866.1:p.Met628Thr missense NM_001407938.1:c.1883T>C NP_001394867.1:p.Met628Thr missense NM_001407939.1:c.1883T>C NP_001394868.1:p.Met628Thr missense NM_001407940.1:c.1880T>C NP_001394869.1:p.Met627Thr missense NM_001407941.1:c.1880T>C NP_001394870.1:p.Met627Thr missense NM_001407942.1:c.1865T>C NP_001394871.1:p.Met622Thr missense NM_001407943.1:c.1862T>C NP_001394872.1:p.Met621Thr missense NM_001407944.1:c.1865T>C NP_001394873.1:p.Met622Thr missense NM_001407945.1:c.1865T>C NP_001394874.1:p.Met622Thr missense NM_001407946.1:c.1673T>C NP_001394875.1:p.Met558Thr missense NM_001407947.1:c.1673T>C NP_001394876.1:p.Met558Thr missense NM_001407948.1:c.1673T>C NP_001394877.1:p.Met558Thr missense NM_001407949.1:c.1673T>C NP_001394878.1:p.Met558Thr missense NM_001407950.1:c.1673T>C NP_001394879.1:p.Met558Thr missense NM_001407951.1:c.1673T>C NP_001394880.1:p.Met558Thr missense NM_001407952.1:c.1673T>C NP_001394881.1:p.Met558Thr missense NM_001407953.1:c.1673T>C NP_001394882.1:p.Met558Thr missense NM_001407954.1:c.1670T>C NP_001394883.1:p.Met557Thr missense NM_001407955.1:c.1670T>C NP_001394884.1:p.Met557Thr missense NM_001407956.1:c.1670T>C NP_001394885.1:p.Met557Thr missense NM_001407957.1:c.1673T>C NP_001394886.1:p.Met558Thr missense NM_001407958.1:c.1670T>C NP_001394887.1:p.Met557Thr missense NM_001407959.1:c.1625T>C NP_001394888.1:p.Met542Thr missense NM_001407960.1:c.1625T>C NP_001394889.1:p.Met542Thr missense NM_001407962.1:c.1622T>C NP_001394891.1:p.Met541Thr missense NM_001407963.1:c.1625T>C NP_001394892.1:p.Met542Thr missense NM_001407964.1:c.1862T>C NP_001394893.1:p.Met621Thr missense NM_001407965.1:c.1502T>C NP_001394894.1:p.Met501Thr missense NM_001407966.1:c.1118T>C NP_001394895.1:p.Met373Thr missense NM_001407967.1:c.1118T>C NP_001394896.1:p.Met373Thr missense NM_001407968.1:c.787+1219T>C intron variant NM_001407969.1:c.787+1219T>C intron variant NM_001407970.1:c.787+1219T>C intron variant NM_001407971.1:c.787+1219T>C intron variant NM_001407972.1:c.784+1219T>C intron variant NM_001407973.1:c.787+1219T>C intron variant NM_001407974.1:c.787+1219T>C intron variant NM_001407975.1:c.787+1219T>C intron variant NM_001407976.1:c.787+1219T>C intron variant NM_001407977.1:c.787+1219T>C intron variant NM_001407978.1:c.787+1219T>C intron variant NM_001407979.1:c.787+1219T>C intron variant NM_001407980.1:c.787+1219T>C intron variant NM_001407981.1:c.787+1219T>C intron variant NM_001407982.1:c.787+1219T>C intron variant NM_001407983.1:c.787+1219T>C intron variant NM_001407984.1:c.784+1219T>C intron variant NM_001407985.1:c.784+1219T>C intron variant NM_001407986.1:c.784+1219T>C intron variant NM_001407990.1:c.787+1219T>C intron variant NM_001407991.1:c.784+1219T>C intron variant NM_001407992.1:c.784+1219T>C intron variant NM_001407993.1:c.787+1219T>C intron variant NM_001408392.1:c.784+1219T>C intron variant NM_001408396.1:c.784+1219T>C intron variant NM_001408397.1:c.784+1219T>C intron variant NM_001408398.1:c.784+1219T>C intron variant NM_001408399.1:c.784+1219T>C intron variant NM_001408400.1:c.784+1219T>C intron variant NM_001408401.1:c.784+1219T>C intron variant NM_001408402.1:c.784+1219T>C intron variant NM_001408403.1:c.787+1219T>C intron variant NM_001408404.1:c.787+1219T>C intron variant NM_001408406.1:c.790+1216T>C intron variant NM_001408407.1:c.784+1219T>C intron variant NM_001408408.1:c.778+1219T>C intron variant NM_001408409.1:c.709+1219T>C intron variant NM_001408410.1:c.646+1219T>C intron variant NM_001408411.1:c.709+1219T>C intron variant NM_001408412.1:c.709+1219T>C intron variant NM_001408413.1:c.706+1219T>C intron variant NM_001408414.1:c.709+1219T>C intron variant NM_001408415.1:c.709+1219T>C intron variant NM_001408416.1:c.706+1219T>C intron variant NM_001408418.1:c.670+2321T>C intron variant NM_001408419.1:c.670+2321T>C intron variant NM_001408420.1:c.670+2321T>C intron variant NM_001408421.1:c.667+2321T>C intron variant NM_001408422.1:c.670+2321T>C intron variant NM_001408423.1:c.670+2321T>C intron variant NM_001408424.1:c.667+2321T>C intron variant NM_001408425.1:c.664+1219T>C intron variant NM_001408426.1:c.664+1219T>C intron variant NM_001408427.1:c.664+1219T>C intron variant NM_001408428.1:c.664+1219T>C intron variant NM_001408429.1:c.664+1219T>C intron variant NM_001408430.1:c.664+1219T>C intron variant NM_001408431.1:c.667+2321T>C intron variant NM_001408432.1:c.661+1219T>C intron variant NM_001408433.1:c.661+1219T>C intron variant NM_001408434.1:c.661+1219T>C intron variant NM_001408435.1:c.661+1219T>C intron variant NM_001408436.1:c.664+1219T>C intron variant NM_001408437.1:c.664+1219T>C intron variant NM_001408438.1:c.664+1219T>C intron variant NM_001408439.1:c.664+1219T>C intron variant NM_001408440.1:c.664+1219T>C intron variant NM_001408441.1:c.664+1219T>C intron variant NM_001408442.1:c.664+1219T>C intron variant NM_001408443.1:c.664+1219T>C intron variant NM_001408444.1:c.664+1219T>C intron variant NM_001408445.1:c.661+1219T>C intron variant NM_001408446.1:c.661+1219T>C intron variant NM_001408447.1:c.661+1219T>C intron variant NM_001408448.1:c.661+1219T>C intron variant NM_001408450.1:c.661+1219T>C intron variant NM_001408451.1:c.652+1219T>C intron variant NM_001408452.1:c.646+1219T>C intron variant NM_001408453.1:c.646+1219T>C intron variant NM_001408454.1:c.646+1219T>C intron variant NM_001408455.1:c.646+1219T>C intron variant NM_001408456.1:c.646+1219T>C intron variant NM_001408457.1:c.646+1219T>C intron variant NM_001408458.1:c.646+1219T>C intron variant NM_001408459.1:c.646+1219T>C intron variant NM_001408460.1:c.646+1219T>C intron variant NM_001408461.1:c.646+1219T>C intron variant NM_001408462.1:c.643+1219T>C intron variant NM_001408463.1:c.643+1219T>C intron variant NM_001408464.1:c.643+1219T>C intron variant NM_001408465.1:c.643+1219T>C intron variant NM_001408466.1:c.646+1219T>C intron variant NM_001408467.1:c.646+1219T>C intron variant NM_001408468.1:c.643+1219T>C intron variant NM_001408469.1:c.646+1219T>C intron variant NM_001408470.1:c.643+1219T>C intron variant NM_001408472.1:c.787+1219T>C intron variant NM_001408473.1:c.784+1219T>C intron variant NM_001408474.1:c.586+1219T>C intron variant NM_001408475.1:c.583+1219T>C intron variant NM_001408476.1:c.586+1219T>C intron variant NM_001408478.1:c.577+1219T>C intron variant NM_001408479.1:c.577+1219T>C intron variant NM_001408480.1:c.577+1219T>C intron variant NM_001408481.1:c.577+1219T>C intron variant NM_001408482.1:c.577+1219T>C intron variant NM_001408483.1:c.577+1219T>C intron variant NM_001408484.1:c.577+1219T>C intron variant NM_001408485.1:c.577+1219T>C intron variant NM_001408489.1:c.577+1219T>C intron variant NM_001408490.1:c.574+1219T>C intron variant NM_001408491.1:c.574+1219T>C intron variant NM_001408492.1:c.577+1219T>C intron variant NM_001408493.1:c.574+1219T>C intron variant NM_001408494.1:c.548-2493T>C intron variant NM_001408495.1:c.545-2493T>C intron variant NM_001408496.1:c.523+1219T>C intron variant NM_001408497.1:c.523+1219T>C intron variant NM_001408498.1:c.523+1219T>C intron variant NM_001408499.1:c.523+1219T>C intron variant NM_001408500.1:c.523+1219T>C intron variant NM_001408501.1:c.523+1219T>C intron variant NM_001408502.1:c.454+1219T>C intron variant NM_001408503.1:c.520+1219T>C intron variant NM_001408504.1:c.520+1219T>C intron variant NM_001408505.1:c.520+1219T>C intron variant NM_001408506.1:c.460+2321T>C intron variant NM_001408507.1:c.460+2321T>C intron variant NM_001408508.1:c.451+1219T>C intron variant NM_001408509.1:c.451+1219T>C intron variant NM_001408510.1:c.406+1219T>C intron variant NM_001408511.1:c.404-2493T>C intron variant NM_001408512.1:c.283+1219T>C intron variant NM_001408513.1:c.577+1219T>C intron variant NM_001408514.1:c.577+1219T>C intron variant NM_007297.4:c.1865T>C NP_009228.2:p.Met622Thr missense NM_007298.4:c.787+1219T>C intron variant NM_007299.4:c.787+1219T>C intron variant NM_007300.4:c.2006T>C NP_009231.2:p.Met669Thr missense NR_027676.1:n.2142T>C NC_000017.11:g.43093525A>G NC_000017.10:g.41245542A>G NG_005905.2:g.124459T>C LRG_292:g.124459T>C LRG_292t1:c.2006T>C LRG_292p1:p.Met669Thr U14680.1:n.2125T>C - Protein change
- M669T, M622T, M580T, M599T, M602T, M501T, M542T, M558T, M601T, M621T, M643T, M666T, M668T, M557T, M598T, M642T, M373T, M541T, M581T, M627T, M628T
- Other names
-
2125T>C
- Canonical SPDI
- NC_000017.11:43093524:A: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.
-
0.00020 (G)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00005
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00002
- Links
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 |
13041 | 14847 | |
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 (6) |
criteria provided, conflicting classifications
|
Jul 10, 2023 | RCV000031023.22 | |
| Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Mar 23, 2023 | RCV000130064.20 | |
| Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
|
Jun 6, 2023 | RCV000420884.13 | |
| Benign (1) |
criteria provided, single submitter
|
Dec 27, 2023 | RCV001472789.15 | |
| Uncertain significance (1) |
no assertion criteria provided
|
- | RCV002250471.9 | |
| Likely benign (1) |
criteria provided, single submitter
|
Jan 30, 2023 | RCV001800318.10 |
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
(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: SCV001140587.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
|
|
|
Uncertain significance
(Jun 06, 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: SCV004021077.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
Variant summary: BRCA1 c.2006T>C (p.Met669Thr) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign … (more)
Variant summary: BRCA1 c.2006T>C (p.Met669Thr) results in a non-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 7.6e-05 in 262638 control chromosomes (gnomAD, Dong_2021). This frequency is not significantly higher than estimated for a pathogenic variant in BRCA1 causing Hereditary Breast And Ovarian Cancer Syndrome (7.6e-05 vs 0.001), allowing no conclusion about variant significance. c.2006T>C has been reported in the literature in individuals affected with Breast Cancer (e.g. Sun_2014) and Prostate Cancer (e.g. Tang_2022). These reports 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 publications have been ascertained in the context of this evaluation (PMID: 32467295, 33087888, 25337278, 35734583). Eight ClinVar submitters have assessed the variant since 2014: one classified the variant as uncertain significance, five as likely benign, and two as benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign. (less)
|
|
|
Likely benign
(Jan 03, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000518172.4
First in ClinVar: Mar 08, 2017 Last updated: Apr 09, 2018 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
|
|
|
Likely benign
(Sep 23, 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: SCV000911034.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
|
|
|
Uncertain significance
(Dec 01, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000487917.2
First in ClinVar: May 27, 2015 Last updated: Dec 24, 2022 |
|
|
|
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: SCV003849569.1
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).
|
|
|
Likely benign
(Jan 30, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV002046150.2
First in ClinVar: Jan 03, 2022 Last updated: Jan 06, 2024 |
|
|
|
Benign
(Dec 27, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001676927.4
First in ClinVar: Jun 08, 2021 Last updated: Feb 20, 2024 |
|
|
|
Likely Benign
(Jul 10, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004818239.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
|
Number of individuals with the variant: 1
|
|
|
Likely benign
(Sep 09, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000184891.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely 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
(Nov 25, 2004)
|
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: SCV000144273.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Asian
|
|
|
Uncertain significance
(-)
|
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: SCV002520891.1
First in ClinVar: Jun 05, 2022 Last updated: Jun 05, 2022 |
|
|
|
Benign
(Feb 17, 2012)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000053616.3
First in ClinVar: Apr 04, 2013 Last updated: Sep 27, 2014 |
|
|
|
Uncertain significance
(-)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
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: SCV000591363.2 First in ClinVar: Mar 08, 2017 Last updated: Apr 13, 2021 |
Comment:
The BRCA1 p.Met669Thr variant was identified in 4 of 926 proband chromosomes (frequency: 0.004) from individuals or families with breast cancer and was not identified … (more)
The BRCA1 p.Met669Thr variant was identified in 4 of 926 proband chromosomes (frequency: 0.004) from individuals or families with breast cancer and was not identified in 60 control chromosomes from healthy individuals (Sun 2014). The variant was also identified in dbSNP (ID: rs80356895) as "With other allele" and ClinVar (classified as benign by SCRP; as likely benign by GeneDx; and as uncertain significance by Ambry Genetics, Counsyl, COGR and BIC). The variant was not identified in LOVD 3.0 or UMD-LSDB databases. The variant was identified in 12 of 276982 chromosomes at a frequency of 0.00004 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: European in 1 of 126578 chromosomes (freq: 0.000008) and East Asian in 11 of 18862 chromosomes (freq: 0.0006), but not in the African, Other, Latino, Ashkenazi Jewish, Finnish, or South Asian populations. The p.Met669 residue is not conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. 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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Comment:
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Comment:
This alteration is classified as likely 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.
Comment:
The BRCA1 p.Met669Thr variant was identified in 4 of 926 proband chromosomes (frequency: 0.004) from individuals or families with breast cancer and was not identified in 60 control chromosomes from healthy individuals (Sun 2014). The variant was also identified in dbSNP (ID: rs80356895) as "With other allele" and ClinVar (classified as benign by SCRP; as likely benign by GeneDx; and as uncertain significance by Ambry Genetics, Counsyl, COGR and BIC). The variant was not identified in LOVD 3.0 or UMD-LSDB databases. The variant was identified in 12 of 276982 chromosomes at a frequency of 0.00004 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: European in 1 of 126578 chromosomes (freq: 0.000008) and East Asian in 11 of 18862 chromosomes (freq: 0.0006), but not in the African, Other, Latino, Ashkenazi Jewish, Finnish, or South Asian populations. The p.Met669 residue is not conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. 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.
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. |
Comment:
Variant summary: BRCA1 c.2006T>C (p.Met669Thr) results in a non-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 7.6e-05 in 262638 control chromosomes (gnomAD, Dong_2021). This frequency is not significantly higher than estimated for a pathogenic variant in BRCA1 causing Hereditary Breast And Ovarian Cancer Syndrome (7.6e-05 vs 0.001), allowing no conclusion about variant significance. c.2006T>C has been reported in the literature in individuals affected with Breast Cancer (e.g. Sun_2014) and Prostate Cancer (e.g. Tang_2022). These reports 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 publications have been ascertained in the context of this evaluation (PMID: 32467295, 33087888, 25337278, 35734583). Eight ClinVar submitters have assessed the variant since 2014: one classified the variant as uncertain significance, five as likely benign, and two as benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Comment:
This alteration is classified as likely 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.
Comment:
The BRCA1 p.Met669Thr variant was identified in 4 of 926 proband chromosomes (frequency: 0.004) from individuals or families with breast cancer and was not identified in 60 control chromosomes from healthy individuals (Sun 2014). The variant was also identified in dbSNP (ID: rs80356895) as "With other allele" and ClinVar (classified as benign by SCRP; as likely benign by GeneDx; and as uncertain significance by Ambry Genetics, Counsyl, COGR and BIC). The variant was not identified in LOVD 3.0 or UMD-LSDB databases. The variant was identified in 12 of 276982 chromosomes at a frequency of 0.00004 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: European in 1 of 126578 chromosomes (freq: 0.000008) and East Asian in 11 of 18862 chromosomes (freq: 0.0006), but not in the African, Other, Latino, Ashkenazi Jewish, Finnish, or South Asian populations. The p.Met669 residue is not conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. 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.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Germline Mutations in Patients With Early-Onset Prostate Cancer. | Tang T | Frontiers in oncology | 2022 | PMID: 35734583 |
| Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
| Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance. | Lyra PCM Jr | Genetics in medicine : official journal of the American College of Medical Genetics | 2021 | PMID: 33087888 |
| Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario. | Lerner-Ellis J | Journal of cancer research and clinical oncology | 2021 | PMID: 32885271 |
| Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population. | Dong H | Journal of medical genetics | 2021 | PMID: 32467295 |
| 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 |
| Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients. | Gao X | Human mutation | 2020 | PMID: 31825140 |
| Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. | Parsons MT | Human mutation | 2019 | PMID: 31131967 |
| Prevalence of BRCA1 gene mutation in breast cancer patients in Guangxi, China. | Sun L | International journal of clinical and experimental pathology | 2014 | PMID: 25337278 |
Text-mined citations for rs80356895 ...
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the rs number, so they may include citations for more than one variant
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variant of interest.
Record last updated Nov 03, 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.