ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1480C>A (p.Gln494Lys)
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.1480C>A (p.Gln494Lys)
Variation ID: 2585849 Accession: VCV002585849.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43094051 (GRCh38) [ NCBI UCSC ] 17: 41246068 (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 28, 2023 May 1, 2024 Dec 11, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.1480C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln494Lys missense NM_001407571.1:c.1267C>A NP_001394500.1:p.Gln423Lys missense NM_001407581.1:c.1480C>A NP_001394510.1:p.Gln494Lys missense NM_001407582.1:c.1480C>A NP_001394511.1:p.Gln494Lys missense NM_001407583.1:c.1480C>A NP_001394512.1:p.Gln494Lys missense NM_001407585.1:c.1480C>A NP_001394514.1:p.Gln494Lys missense NM_001407587.1:c.1477C>A NP_001394516.1:p.Gln493Lys missense NM_001407590.1:c.1477C>A NP_001394519.1:p.Gln493Lys missense NM_001407591.1:c.1477C>A NP_001394520.1:p.Gln493Lys missense NM_001407593.1:c.1480C>A NP_001394522.1:p.Gln494Lys missense NM_001407594.1:c.1480C>A NP_001394523.1:p.Gln494Lys missense NM_001407596.1:c.1480C>A NP_001394525.1:p.Gln494Lys missense NM_001407597.1:c.1480C>A NP_001394526.1:p.Gln494Lys missense NM_001407598.1:c.1480C>A NP_001394527.1:p.Gln494Lys missense NM_001407602.1:c.1480C>A NP_001394531.1:p.Gln494Lys missense NM_001407603.1:c.1480C>A NP_001394532.1:p.Gln494Lys missense NM_001407605.1:c.1480C>A NP_001394534.1:p.Gln494Lys missense NM_001407610.1:c.1477C>A NP_001394539.1:p.Gln493Lys missense NM_001407611.1:c.1477C>A NP_001394540.1:p.Gln493Lys missense NM_001407612.1:c.1477C>A NP_001394541.1:p.Gln493Lys missense NM_001407613.1:c.1477C>A NP_001394542.1:p.Gln493Lys missense NM_001407614.1:c.1477C>A NP_001394543.1:p.Gln493Lys missense NM_001407615.1:c.1477C>A NP_001394544.1:p.Gln493Lys missense NM_001407616.1:c.1480C>A NP_001394545.1:p.Gln494Lys missense NM_001407617.1:c.1480C>A NP_001394546.1:p.Gln494Lys missense NM_001407618.1:c.1480C>A NP_001394547.1:p.Gln494Lys missense NM_001407619.1:c.1480C>A NP_001394548.1:p.Gln494Lys missense NM_001407620.1:c.1480C>A NP_001394549.1:p.Gln494Lys missense NM_001407621.1:c.1480C>A NP_001394550.1:p.Gln494Lys missense NM_001407622.1:c.1480C>A NP_001394551.1:p.Gln494Lys missense NM_001407623.1:c.1480C>A NP_001394552.1:p.Gln494Lys missense NM_001407624.1:c.1480C>A NP_001394553.1:p.Gln494Lys missense NM_001407625.1:c.1480C>A NP_001394554.1:p.Gln494Lys missense NM_001407626.1:c.1480C>A NP_001394555.1:p.Gln494Lys missense NM_001407627.1:c.1477C>A NP_001394556.1:p.Gln493Lys missense NM_001407628.1:c.1477C>A NP_001394557.1:p.Gln493Lys missense NM_001407629.1:c.1477C>A NP_001394558.1:p.Gln493Lys missense NM_001407630.1:c.1477C>A NP_001394559.1:p.Gln493Lys missense NM_001407631.1:c.1477C>A NP_001394560.1:p.Gln493Lys missense NM_001407632.1:c.1477C>A NP_001394561.1:p.Gln493Lys missense NM_001407633.1:c.1477C>A NP_001394562.1:p.Gln493Lys missense NM_001407634.1:c.1477C>A NP_001394563.1:p.Gln493Lys missense NM_001407635.1:c.1477C>A NP_001394564.1:p.Gln493Lys missense NM_001407636.1:c.1477C>A NP_001394565.1:p.Gln493Lys missense NM_001407637.1:c.1477C>A NP_001394566.1:p.Gln493Lys missense NM_001407638.1:c.1477C>A NP_001394567.1:p.Gln493Lys missense NM_001407639.1:c.1480C>A NP_001394568.1:p.Gln494Lys missense NM_001407640.1:c.1480C>A NP_001394569.1:p.Gln494Lys missense NM_001407641.1:c.1480C>A NP_001394570.1:p.Gln494Lys missense NM_001407642.1:c.1480C>A NP_001394571.1:p.Gln494Lys missense NM_001407644.1:c.1477C>A NP_001394573.1:p.Gln493Lys missense NM_001407645.1:c.1477C>A NP_001394574.1:p.Gln493Lys missense NM_001407646.1:c.1471C>A NP_001394575.1:p.Gln491Lys missense NM_001407647.1:c.1471C>A NP_001394576.1:p.Gln491Lys missense NM_001407648.1:c.1357C>A NP_001394577.1:p.Gln453Lys missense NM_001407649.1:c.1354C>A NP_001394578.1:p.Gln452Lys missense NM_001407652.1:c.1480C>A NP_001394581.1:p.Gln494Lys missense NM_001407653.1:c.1402C>A NP_001394582.1:p.Gln468Lys missense NM_001407654.1:c.1402C>A NP_001394583.1:p.Gln468Lys missense NM_001407655.1:c.1402C>A NP_001394584.1:p.Gln468Lys missense NM_001407656.1:c.1402C>A NP_001394585.1:p.Gln468Lys missense NM_001407657.1:c.1402C>A NP_001394586.1:p.Gln468Lys missense NM_001407658.1:c.1402C>A NP_001394587.1:p.Gln468Lys missense NM_001407659.1:c.1399C>A NP_001394588.1:p.Gln467Lys missense NM_001407660.1:c.1399C>A NP_001394589.1:p.Gln467Lys missense NM_001407661.1:c.1399C>A NP_001394590.1:p.Gln467Lys missense NM_001407662.1:c.1399C>A NP_001394591.1:p.Gln467Lys missense NM_001407663.1:c.1402C>A NP_001394592.1:p.Gln468Lys missense NM_001407664.1:c.1357C>A NP_001394593.1:p.Gln453Lys missense NM_001407665.1:c.1357C>A NP_001394594.1:p.Gln453Lys missense NM_001407666.1:c.1357C>A NP_001394595.1:p.Gln453Lys missense NM_001407667.1:c.1357C>A NP_001394596.1:p.Gln453Lys missense NM_001407668.1:c.1357C>A NP_001394597.1:p.Gln453Lys missense NM_001407669.1:c.1357C>A NP_001394598.1:p.Gln453Lys missense NM_001407670.1:c.1354C>A NP_001394599.1:p.Gln452Lys missense NM_001407671.1:c.1354C>A NP_001394600.1:p.Gln452Lys missense NM_001407672.1:c.1354C>A NP_001394601.1:p.Gln452Lys missense NM_001407673.1:c.1354C>A NP_001394602.1:p.Gln452Lys missense NM_001407674.1:c.1357C>A NP_001394603.1:p.Gln453Lys missense NM_001407675.1:c.1357C>A NP_001394604.1:p.Gln453Lys missense NM_001407676.1:c.1357C>A NP_001394605.1:p.Gln453Lys missense NM_001407677.1:c.1357C>A NP_001394606.1:p.Gln453Lys missense NM_001407678.1:c.1357C>A NP_001394607.1:p.Gln453Lys missense NM_001407679.1:c.1357C>A NP_001394608.1:p.Gln453Lys missense NM_001407680.1:c.1357C>A NP_001394609.1:p.Gln453Lys missense NM_001407681.1:c.1357C>A NP_001394610.1:p.Gln453Lys missense NM_001407682.1:c.1357C>A NP_001394611.1:p.Gln453Lys missense NM_001407683.1:c.1357C>A NP_001394612.1:p.Gln453Lys missense NM_001407684.1:c.1480C>A NP_001394613.1:p.Gln494Lys missense NM_001407685.1:c.1354C>A NP_001394614.1:p.Gln452Lys missense NM_001407686.1:c.1354C>A NP_001394615.1:p.Gln452Lys missense NM_001407687.1:c.1354C>A NP_001394616.1:p.Gln452Lys missense NM_001407688.1:c.1354C>A NP_001394617.1:p.Gln452Lys missense NM_001407689.1:c.1354C>A NP_001394618.1:p.Gln452Lys missense NM_001407690.1:c.1354C>A NP_001394619.1:p.Gln452Lys missense NM_001407691.1:c.1354C>A NP_001394620.1:p.Gln452Lys missense NM_001407692.1:c.1339C>A NP_001394621.1:p.Gln447Lys missense NM_001407694.1:c.1339C>A NP_001394623.1:p.Gln447Lys missense NM_001407695.1:c.1339C>A NP_001394624.1:p.Gln447Lys missense NM_001407696.1:c.1339C>A NP_001394625.1:p.Gln447Lys missense NM_001407697.1:c.1339C>A NP_001394626.1:p.Gln447Lys missense NM_001407698.1:c.1339C>A NP_001394627.1:p.Gln447Lys missense NM_001407724.1:c.1339C>A NP_001394653.1:p.Gln447Lys missense NM_001407725.1:c.1339C>A NP_001394654.1:p.Gln447Lys missense NM_001407726.1:c.1339C>A NP_001394655.1:p.Gln447Lys missense NM_001407727.1:c.1339C>A NP_001394656.1:p.Gln447Lys missense NM_001407728.1:c.1339C>A NP_001394657.1:p.Gln447Lys missense NM_001407729.1:c.1339C>A NP_001394658.1:p.Gln447Lys missense NM_001407730.1:c.1339C>A NP_001394659.1:p.Gln447Lys missense NM_001407731.1:c.1339C>A NP_001394660.1:p.Gln447Lys missense NM_001407732.1:c.1339C>A NP_001394661.1:p.Gln447Lys missense NM_001407733.1:c.1339C>A NP_001394662.1:p.Gln447Lys missense NM_001407734.1:c.1339C>A NP_001394663.1:p.Gln447Lys missense NM_001407735.1:c.1339C>A NP_001394664.1:p.Gln447Lys missense NM_001407736.1:c.1339C>A NP_001394665.1:p.Gln447Lys missense NM_001407737.1:c.1339C>A NP_001394666.1:p.Gln447Lys missense NM_001407738.1:c.1339C>A NP_001394667.1:p.Gln447Lys missense NM_001407739.1:c.1339C>A NP_001394668.1:p.Gln447Lys missense NM_001407740.1:c.1336C>A NP_001394669.1:p.Gln446Lys missense NM_001407741.1:c.1336C>A NP_001394670.1:p.Gln446Lys missense NM_001407742.1:c.1336C>A NP_001394671.1:p.Gln446Lys missense NM_001407743.1:c.1336C>A NP_001394672.1:p.Gln446Lys missense NM_001407744.1:c.1336C>A NP_001394673.1:p.Gln446Lys missense NM_001407745.1:c.1336C>A NP_001394674.1:p.Gln446Lys missense NM_001407746.1:c.1336C>A NP_001394675.1:p.Gln446Lys missense NM_001407747.1:c.1336C>A NP_001394676.1:p.Gln446Lys missense NM_001407748.1:c.1336C>A NP_001394677.1:p.Gln446Lys missense NM_001407749.1:c.1336C>A NP_001394678.1:p.Gln446Lys missense NM_001407750.1:c.1339C>A NP_001394679.1:p.Gln447Lys missense NM_001407751.1:c.1339C>A NP_001394680.1:p.Gln447Lys missense NM_001407752.1:c.1339C>A NP_001394681.1:p.Gln447Lys missense NM_001407838.1:c.1336C>A NP_001394767.1:p.Gln446Lys missense NM_001407839.1:c.1336C>A NP_001394768.1:p.Gln446Lys missense NM_001407841.1:c.1336C>A NP_001394770.1:p.Gln446Lys missense NM_001407842.1:c.1336C>A NP_001394771.1:p.Gln446Lys missense NM_001407843.1:c.1336C>A NP_001394772.1:p.Gln446Lys missense NM_001407844.1:c.1336C>A NP_001394773.1:p.Gln446Lys missense NM_001407845.1:c.1336C>A NP_001394774.1:p.Gln446Lys missense NM_001407846.1:c.1336C>A NP_001394775.1:p.Gln446Lys missense NM_001407847.1:c.1336C>A NP_001394776.1:p.Gln446Lys missense NM_001407848.1:c.1336C>A NP_001394777.1:p.Gln446Lys missense NM_001407849.1:c.1336C>A NP_001394778.1:p.Gln446Lys missense NM_001407850.1:c.1339C>A NP_001394779.1:p.Gln447Lys missense NM_001407851.1:c.1339C>A NP_001394780.1:p.Gln447Lys missense NM_001407852.1:c.1339C>A NP_001394781.1:p.Gln447Lys missense NM_001407853.1:c.1267C>A NP_001394782.1:p.Gln423Lys missense NM_001407854.1:c.1480C>A NP_001394783.1:p.Gln494Lys missense NM_001407858.1:c.1480C>A NP_001394787.1:p.Gln494Lys missense NM_001407859.1:c.1480C>A NP_001394788.1:p.Gln494Lys missense NM_001407860.1:c.1477C>A NP_001394789.1:p.Gln493Lys missense NM_001407861.1:c.1477C>A NP_001394790.1:p.Gln493Lys missense NM_001407862.1:c.1279C>A NP_001394791.1:p.Gln427Lys missense NM_001407863.1:c.1357C>A NP_001394792.1:p.Gln453Lys missense NM_001407874.1:c.1276C>A NP_001394803.1:p.Gln426Lys missense NM_001407875.1:c.1276C>A NP_001394804.1:p.Gln426Lys missense NM_001407879.1:c.1270C>A NP_001394808.1:p.Gln424Lys missense NM_001407881.1:c.1270C>A NP_001394810.1:p.Gln424Lys missense NM_001407882.1:c.1270C>A NP_001394811.1:p.Gln424Lys missense NM_001407884.1:c.1270C>A NP_001394813.1:p.Gln424Lys missense NM_001407885.1:c.1270C>A NP_001394814.1:p.Gln424Lys missense NM_001407886.1:c.1270C>A NP_001394815.1:p.Gln424Lys missense NM_001407887.1:c.1270C>A NP_001394816.1:p.Gln424Lys missense NM_001407889.1:c.1270C>A NP_001394818.1:p.Gln424Lys missense NM_001407894.1:c.1267C>A NP_001394823.1:p.Gln423Lys missense NM_001407895.1:c.1267C>A NP_001394824.1:p.Gln423Lys missense NM_001407896.1:c.1267C>A NP_001394825.1:p.Gln423Lys missense NM_001407897.1:c.1267C>A NP_001394826.1:p.Gln423Lys missense NM_001407898.1:c.1267C>A NP_001394827.1:p.Gln423Lys missense NM_001407899.1:c.1267C>A NP_001394828.1:p.Gln423Lys missense NM_001407900.1:c.1270C>A NP_001394829.1:p.Gln424Lys missense NM_001407902.1:c.1270C>A NP_001394831.1:p.Gln424Lys missense NM_001407904.1:c.1270C>A NP_001394833.1:p.Gln424Lys missense NM_001407906.1:c.1270C>A NP_001394835.1:p.Gln424Lys missense NM_001407907.1:c.1270C>A NP_001394836.1:p.Gln424Lys missense NM_001407908.1:c.1270C>A NP_001394837.1:p.Gln424Lys missense NM_001407909.1:c.1270C>A NP_001394838.1:p.Gln424Lys missense NM_001407910.1:c.1270C>A NP_001394839.1:p.Gln424Lys missense NM_001407915.1:c.1267C>A NP_001394844.1:p.Gln423Lys missense NM_001407916.1:c.1267C>A NP_001394845.1:p.Gln423Lys missense NM_001407917.1:c.1267C>A NP_001394846.1:p.Gln423Lys missense NM_001407918.1:c.1267C>A NP_001394847.1:p.Gln423Lys missense NM_001407919.1:c.1357C>A NP_001394848.1:p.Gln453Lys missense NM_001407920.1:c.1216C>A NP_001394849.1:p.Gln406Lys missense NM_001407921.1:c.1216C>A NP_001394850.1:p.Gln406Lys missense NM_001407922.1:c.1216C>A NP_001394851.1:p.Gln406Lys missense NM_001407923.1:c.1216C>A NP_001394852.1:p.Gln406Lys missense NM_001407924.1:c.1216C>A NP_001394853.1:p.Gln406Lys missense NM_001407925.1:c.1216C>A NP_001394854.1:p.Gln406Lys missense NM_001407926.1:c.1216C>A NP_001394855.1:p.Gln406Lys missense NM_001407927.1:c.1216C>A NP_001394856.1:p.Gln406Lys missense NM_001407928.1:c.1216C>A NP_001394857.1:p.Gln406Lys missense NM_001407929.1:c.1216C>A NP_001394858.1:p.Gln406Lys missense NM_001407930.1:c.1213C>A NP_001394859.1:p.Gln405Lys missense NM_001407931.1:c.1213C>A NP_001394860.1:p.Gln405Lys missense NM_001407932.1:c.1213C>A NP_001394861.1:p.Gln405Lys missense NM_001407933.1:c.1216C>A NP_001394862.1:p.Gln406Lys missense NM_001407934.1:c.1213C>A NP_001394863.1:p.Gln405Lys missense NM_001407935.1:c.1216C>A NP_001394864.1:p.Gln406Lys missense NM_001407936.1:c.1213C>A NP_001394865.1:p.Gln405Lys missense NM_001407937.1:c.1357C>A NP_001394866.1:p.Gln453Lys missense NM_001407938.1:c.1357C>A NP_001394867.1:p.Gln453Lys missense NM_001407939.1:c.1357C>A NP_001394868.1:p.Gln453Lys missense NM_001407940.1:c.1354C>A NP_001394869.1:p.Gln452Lys missense NM_001407941.1:c.1354C>A NP_001394870.1:p.Gln452Lys missense NM_001407942.1:c.1339C>A NP_001394871.1:p.Gln447Lys missense NM_001407943.1:c.1336C>A NP_001394872.1:p.Gln446Lys missense NM_001407944.1:c.1339C>A NP_001394873.1:p.Gln447Lys missense NM_001407945.1:c.1339C>A NP_001394874.1:p.Gln447Lys missense NM_001407946.1:c.1147C>A NP_001394875.1:p.Gln383Lys missense NM_001407947.1:c.1147C>A NP_001394876.1:p.Gln383Lys missense NM_001407948.1:c.1147C>A NP_001394877.1:p.Gln383Lys missense NM_001407949.1:c.1147C>A NP_001394878.1:p.Gln383Lys missense NM_001407950.1:c.1147C>A NP_001394879.1:p.Gln383Lys missense NM_001407951.1:c.1147C>A NP_001394880.1:p.Gln383Lys missense NM_001407952.1:c.1147C>A NP_001394881.1:p.Gln383Lys missense NM_001407953.1:c.1147C>A NP_001394882.1:p.Gln383Lys missense NM_001407954.1:c.1144C>A NP_001394883.1:p.Gln382Lys missense NM_001407955.1:c.1144C>A NP_001394884.1:p.Gln382Lys missense NM_001407956.1:c.1144C>A NP_001394885.1:p.Gln382Lys missense NM_001407957.1:c.1147C>A NP_001394886.1:p.Gln383Lys missense NM_001407958.1:c.1144C>A NP_001394887.1:p.Gln382Lys missense NM_001407959.1:c.1099C>A NP_001394888.1:p.Gln367Lys missense NM_001407960.1:c.1099C>A NP_001394889.1:p.Gln367Lys missense NM_001407962.1:c.1096C>A NP_001394891.1:p.Gln366Lys missense NM_001407963.1:c.1099C>A NP_001394892.1:p.Gln367Lys missense NM_001407964.1:c.1336C>A NP_001394893.1:p.Gln446Lys missense NM_001407965.1:c.976C>A NP_001394894.1:p.Gln326Lys missense NM_001407966.1:c.592C>A NP_001394895.1:p.Gln198Lys missense NM_001407967.1:c.592C>A NP_001394896.1:p.Gln198Lys missense NM_001407968.1:c.787+693C>A intron variant NM_001407969.1:c.787+693C>A intron variant NM_001407970.1:c.787+693C>A intron variant NM_001407971.1:c.787+693C>A intron variant NM_001407972.1:c.784+693C>A intron variant NM_001407973.1:c.787+693C>A intron variant NM_001407974.1:c.787+693C>A intron variant NM_001407975.1:c.787+693C>A intron variant NM_001407976.1:c.787+693C>A intron variant NM_001407977.1:c.787+693C>A intron variant NM_001407978.1:c.787+693C>A intron variant NM_001407979.1:c.787+693C>A intron variant NM_001407980.1:c.787+693C>A intron variant NM_001407981.1:c.787+693C>A intron variant NM_001407982.1:c.787+693C>A intron variant NM_001407983.1:c.787+693C>A intron variant NM_001407984.1:c.784+693C>A intron variant NM_001407985.1:c.784+693C>A intron variant NM_001407986.1:c.784+693C>A intron variant NM_001407990.1:c.787+693C>A intron variant NM_001407991.1:c.784+693C>A intron variant NM_001407992.1:c.784+693C>A intron variant NM_001407993.1:c.787+693C>A intron variant NM_001408392.1:c.784+693C>A intron variant NM_001408396.1:c.784+693C>A intron variant NM_001408397.1:c.784+693C>A intron variant NM_001408398.1:c.784+693C>A intron variant NM_001408399.1:c.784+693C>A intron variant NM_001408400.1:c.784+693C>A intron variant NM_001408401.1:c.784+693C>A intron variant NM_001408402.1:c.784+693C>A intron variant NM_001408403.1:c.787+693C>A intron variant NM_001408404.1:c.787+693C>A intron variant NM_001408406.1:c.790+690C>A intron variant NM_001408407.1:c.784+693C>A intron variant NM_001408408.1:c.778+693C>A intron variant NM_001408409.1:c.709+693C>A intron variant NM_001408410.1:c.646+693C>A intron variant NM_001408411.1:c.709+693C>A intron variant NM_001408412.1:c.709+693C>A intron variant NM_001408413.1:c.706+693C>A intron variant NM_001408414.1:c.709+693C>A intron variant NM_001408415.1:c.709+693C>A intron variant NM_001408416.1:c.706+693C>A intron variant NM_001408418.1:c.670+1795C>A intron variant NM_001408419.1:c.670+1795C>A intron variant NM_001408420.1:c.670+1795C>A intron variant NM_001408421.1:c.667+1795C>A intron variant NM_001408422.1:c.670+1795C>A intron variant NM_001408423.1:c.670+1795C>A intron variant NM_001408424.1:c.667+1795C>A intron variant NM_001408425.1:c.664+693C>A intron variant NM_001408426.1:c.664+693C>A intron variant NM_001408427.1:c.664+693C>A intron variant NM_001408428.1:c.664+693C>A intron variant NM_001408429.1:c.664+693C>A intron variant NM_001408430.1:c.664+693C>A intron variant NM_001408431.1:c.667+1795C>A intron variant NM_001408432.1:c.661+693C>A intron variant NM_001408433.1:c.661+693C>A intron variant NM_001408434.1:c.661+693C>A intron variant NM_001408435.1:c.661+693C>A intron variant NM_001408436.1:c.664+693C>A intron variant NM_001408437.1:c.664+693C>A intron variant NM_001408438.1:c.664+693C>A intron variant NM_001408439.1:c.664+693C>A intron variant NM_001408440.1:c.664+693C>A intron variant NM_001408441.1:c.664+693C>A intron variant NM_001408442.1:c.664+693C>A intron variant NM_001408443.1:c.664+693C>A intron variant NM_001408444.1:c.664+693C>A intron variant NM_001408445.1:c.661+693C>A intron variant NM_001408446.1:c.661+693C>A intron variant NM_001408447.1:c.661+693C>A intron variant NM_001408448.1:c.661+693C>A intron variant NM_001408450.1:c.661+693C>A intron variant NM_001408451.1:c.652+693C>A intron variant NM_001408452.1:c.646+693C>A intron variant NM_001408453.1:c.646+693C>A intron variant NM_001408454.1:c.646+693C>A intron variant NM_001408455.1:c.646+693C>A intron variant NM_001408456.1:c.646+693C>A intron variant NM_001408457.1:c.646+693C>A intron variant NM_001408458.1:c.646+693C>A intron variant NM_001408459.1:c.646+693C>A intron variant NM_001408460.1:c.646+693C>A intron variant NM_001408461.1:c.646+693C>A intron variant NM_001408462.1:c.643+693C>A intron variant NM_001408463.1:c.643+693C>A intron variant NM_001408464.1:c.643+693C>A intron variant NM_001408465.1:c.643+693C>A intron variant NM_001408466.1:c.646+693C>A intron variant NM_001408467.1:c.646+693C>A intron variant NM_001408468.1:c.643+693C>A intron variant NM_001408469.1:c.646+693C>A intron variant NM_001408470.1:c.643+693C>A intron variant NM_001408472.1:c.787+693C>A intron variant NM_001408473.1:c.784+693C>A intron variant NM_001408474.1:c.586+693C>A intron variant NM_001408475.1:c.583+693C>A intron variant NM_001408476.1:c.586+693C>A intron variant NM_001408478.1:c.577+693C>A intron variant NM_001408479.1:c.577+693C>A intron variant NM_001408480.1:c.577+693C>A intron variant NM_001408481.1:c.577+693C>A intron variant NM_001408482.1:c.577+693C>A intron variant NM_001408483.1:c.577+693C>A intron variant NM_001408484.1:c.577+693C>A intron variant NM_001408485.1:c.577+693C>A intron variant NM_001408489.1:c.577+693C>A intron variant NM_001408490.1:c.574+693C>A intron variant NM_001408491.1:c.574+693C>A intron variant NM_001408492.1:c.577+693C>A intron variant NM_001408493.1:c.574+693C>A intron variant NM_001408494.1:c.548-3019C>A intron variant NM_001408495.1:c.545-3019C>A intron variant NM_001408496.1:c.523+693C>A intron variant NM_001408497.1:c.523+693C>A intron variant NM_001408498.1:c.523+693C>A intron variant NM_001408499.1:c.523+693C>A intron variant NM_001408500.1:c.523+693C>A intron variant NM_001408501.1:c.523+693C>A intron variant NM_001408502.1:c.454+693C>A intron variant NM_001408503.1:c.520+693C>A intron variant NM_001408504.1:c.520+693C>A intron variant NM_001408505.1:c.520+693C>A intron variant NM_001408506.1:c.460+1795C>A intron variant NM_001408507.1:c.460+1795C>A intron variant NM_001408508.1:c.451+693C>A intron variant NM_001408509.1:c.451+693C>A intron variant NM_001408510.1:c.406+693C>A intron variant NM_001408511.1:c.404-3019C>A intron variant NM_001408512.1:c.283+693C>A intron variant NM_001408513.1:c.577+693C>A intron variant NM_001408514.1:c.577+693C>A intron variant NM_007297.4:c.1339C>A NP_009228.2:p.Gln447Lys missense NM_007298.4:c.787+693C>A intron variant NM_007299.4:c.787+693C>A intron variant NM_007300.4:c.1480C>A NP_009231.2:p.Gln494Lys missense NR_027676.2:n.1657C>A NC_000017.11:g.43094051G>T NC_000017.10:g.41246068G>T NG_005905.2:g.123933C>A LRG_292:g.123933C>A LRG_292t1:c.1480C>A LRG_292p1:p.Gln494Lys - Protein change
- Q198K, Q326K, Q366K, Q405K, Q406K, Q426K, Q493K, Q383K, Q424K, Q453K, Q423K, Q446K, Q467K, Q491K, Q367K, Q382K, Q427K, Q447K, Q452K, Q468K, Q494K
- Other names
- -
- Canonical SPDI
- NC_000017.11:43094050:G:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- 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 | ||
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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. |
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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. |
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Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
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Sep 12, 2023 | RCV003339011.3 | |
Uncertain significance (1) |
criteria provided, single submitter
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Dec 11, 2023 | RCV003530307.2 |
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. |
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Uncertain significance
(Dec 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV004364999.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 494 of the BRCA1 protein (p.Gln494Lys). … (more)
This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 494 of the BRCA1 protein (p.Gln494Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer as well as unaffected individuals (PMID: 27039803). 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 with a negative predictive value of 95%. 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)
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Uncertain significance
(Aug 25, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV004361059.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces glutamine with lysine at codon 494 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces glutamine with lysine at codon 494 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been detected in three individuals affected with early-onset or familial breast cancer and also in eight unaffected individuals (PMID: 27039803). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
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Uncertain significance
(Sep 12, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV004058479.2
First in ClinVar: Oct 28, 2023 Last updated: May 01, 2024 |
Comment:
The p.Q494K variant (also known as c.1480C>A), located in coding exon 9 of the BRCA1 gene, results from a C to A substitution at nucleotide … (more)
The p.Q494K variant (also known as c.1480C>A), located in coding exon 9 of the BRCA1 gene, results from a C to A substitution at nucleotide position 1480. The glutamine at codon 494 is replaced by lysine, an amino acid with similar properties. This alteration has been reported in both cases with breast cancer and healthy controls in a study of individuals from Indonesia (Mundhofir FE et al. Asian Pac J Cancer Prev, 2016;17:1539-46). This amino acid position is not well 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)
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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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BRCA1 Gene Mutation Screening for the Hereditary Breast and/or Ovarian Cancer Syndrome in Breast Cancer Cases: a First High Resolution DNA Melting Analysis in Indonesia. | Mundhofir FE | Asian Pacific journal of cancer prevention : APJCP | 2016 | PMID: 27039803 |
Text-mined citations for this variant ...
HelpRecord last updated Sep 30, 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.