ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.488G>C (p.Arg163Thr)
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.488G>C (p.Arg163Thr)
Variation ID: 531359 Accession: VCV000531359.48
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43099834 (GRCh38) [ NCBI UCSC ] 17: 41251851 (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 May 28, 2018 May 1, 2024 Jan 21, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.488G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Arg163Thr missense NM_001407571.1:c.275G>C NP_001394500.1:p.Arg92Thr missense NM_001407581.1:c.488G>C NP_001394510.1:p.Arg163Thr missense NM_001407582.1:c.488G>C NP_001394511.1:p.Arg163Thr missense NM_001407583.1:c.488G>C NP_001394512.1:p.Arg163Thr missense NM_001407585.1:c.488G>C NP_001394514.1:p.Arg163Thr missense NM_001407587.1:c.485G>C NP_001394516.1:p.Arg162Thr missense NM_001407590.1:c.485G>C NP_001394519.1:p.Arg162Thr missense NM_001407591.1:c.485G>C NP_001394520.1:p.Arg162Thr missense NM_001407593.1:c.488G>C NP_001394522.1:p.Arg163Thr missense NM_001407594.1:c.488G>C NP_001394523.1:p.Arg163Thr missense NM_001407596.1:c.488G>C NP_001394525.1:p.Arg163Thr missense NM_001407597.1:c.488G>C NP_001394526.1:p.Arg163Thr missense NM_001407598.1:c.488G>C NP_001394527.1:p.Arg163Thr missense NM_001407602.1:c.488G>C NP_001394531.1:p.Arg163Thr missense NM_001407603.1:c.488G>C NP_001394532.1:p.Arg163Thr missense NM_001407605.1:c.488G>C NP_001394534.1:p.Arg163Thr missense NM_001407610.1:c.485G>C NP_001394539.1:p.Arg162Thr missense NM_001407611.1:c.485G>C NP_001394540.1:p.Arg162Thr missense NM_001407612.1:c.485G>C NP_001394541.1:p.Arg162Thr missense NM_001407613.1:c.485G>C NP_001394542.1:p.Arg162Thr missense NM_001407614.1:c.485G>C NP_001394543.1:p.Arg162Thr missense NM_001407615.1:c.485G>C NP_001394544.1:p.Arg162Thr missense NM_001407616.1:c.488G>C NP_001394545.1:p.Arg163Thr missense NM_001407617.1:c.488G>C NP_001394546.1:p.Arg163Thr missense NM_001407618.1:c.488G>C NP_001394547.1:p.Arg163Thr missense NM_001407619.1:c.488G>C NP_001394548.1:p.Arg163Thr missense NM_001407620.1:c.488G>C NP_001394549.1:p.Arg163Thr missense NM_001407621.1:c.488G>C NP_001394550.1:p.Arg163Thr missense NM_001407622.1:c.488G>C NP_001394551.1:p.Arg163Thr missense NM_001407623.1:c.488G>C NP_001394552.1:p.Arg163Thr missense NM_001407624.1:c.488G>C NP_001394553.1:p.Arg163Thr missense NM_001407625.1:c.488G>C NP_001394554.1:p.Arg163Thr missense NM_001407626.1:c.488G>C NP_001394555.1:p.Arg163Thr missense NM_001407627.1:c.485G>C NP_001394556.1:p.Arg162Thr missense NM_001407628.1:c.485G>C NP_001394557.1:p.Arg162Thr missense NM_001407629.1:c.485G>C NP_001394558.1:p.Arg162Thr missense NM_001407630.1:c.485G>C NP_001394559.1:p.Arg162Thr missense NM_001407631.1:c.485G>C NP_001394560.1:p.Arg162Thr missense NM_001407632.1:c.485G>C NP_001394561.1:p.Arg162Thr missense NM_001407633.1:c.485G>C NP_001394562.1:p.Arg162Thr missense NM_001407634.1:c.485G>C NP_001394563.1:p.Arg162Thr missense NM_001407635.1:c.485G>C NP_001394564.1:p.Arg162Thr missense NM_001407636.1:c.485G>C NP_001394565.1:p.Arg162Thr missense NM_001407637.1:c.485G>C NP_001394566.1:p.Arg162Thr missense NM_001407638.1:c.485G>C NP_001394567.1:p.Arg162Thr missense NM_001407639.1:c.488G>C NP_001394568.1:p.Arg163Thr missense NM_001407640.1:c.488G>C NP_001394569.1:p.Arg163Thr missense NM_001407641.1:c.488G>C NP_001394570.1:p.Arg163Thr missense NM_001407642.1:c.488G>C NP_001394571.1:p.Arg163Thr missense NM_001407644.1:c.485G>C NP_001394573.1:p.Arg162Thr missense NM_001407645.1:c.485G>C NP_001394574.1:p.Arg162Thr missense NM_001407646.1:c.479G>C NP_001394575.1:p.Arg160Thr missense NM_001407647.1:c.479G>C NP_001394576.1:p.Arg160Thr missense NM_001407648.1:c.488G>C NP_001394577.1:p.Arg163Thr missense NM_001407649.1:c.485G>C NP_001394578.1:p.Arg162Thr missense NM_001407652.1:c.488G>C NP_001394581.1:p.Arg163Thr missense NM_001407653.1:c.410G>C NP_001394582.1:p.Arg137Thr missense NM_001407654.1:c.410G>C NP_001394583.1:p.Arg137Thr missense NM_001407655.1:c.410G>C NP_001394584.1:p.Arg137Thr missense NM_001407656.1:c.410G>C NP_001394585.1:p.Arg137Thr missense NM_001407657.1:c.410G>C NP_001394586.1:p.Arg137Thr missense NM_001407658.1:c.410G>C NP_001394587.1:p.Arg137Thr missense NM_001407659.1:c.407G>C NP_001394588.1:p.Arg136Thr missense NM_001407660.1:c.407G>C NP_001394589.1:p.Arg136Thr missense NM_001407661.1:c.407G>C NP_001394590.1:p.Arg136Thr missense NM_001407662.1:c.407G>C NP_001394591.1:p.Arg136Thr missense NM_001407663.1:c.410G>C NP_001394592.1:p.Arg137Thr missense NM_001407664.1:c.488G>C NP_001394593.1:p.Arg163Thr missense NM_001407665.1:c.488G>C NP_001394594.1:p.Arg163Thr missense NM_001407666.1:c.488G>C NP_001394595.1:p.Arg163Thr missense NM_001407667.1:c.488G>C NP_001394596.1:p.Arg163Thr missense NM_001407668.1:c.488G>C NP_001394597.1:p.Arg163Thr missense NM_001407669.1:c.488G>C NP_001394598.1:p.Arg163Thr missense NM_001407670.1:c.485G>C NP_001394599.1:p.Arg162Thr missense NM_001407671.1:c.485G>C NP_001394600.1:p.Arg162Thr missense NM_001407672.1:c.485G>C NP_001394601.1:p.Arg162Thr missense NM_001407673.1:c.485G>C NP_001394602.1:p.Arg162Thr missense NM_001407674.1:c.488G>C NP_001394603.1:p.Arg163Thr missense NM_001407675.1:c.488G>C NP_001394604.1:p.Arg163Thr missense NM_001407676.1:c.488G>C NP_001394605.1:p.Arg163Thr missense NM_001407677.1:c.488G>C NP_001394606.1:p.Arg163Thr missense NM_001407678.1:c.488G>C NP_001394607.1:p.Arg163Thr missense NM_001407679.1:c.488G>C NP_001394608.1:p.Arg163Thr missense NM_001407680.1:c.488G>C NP_001394609.1:p.Arg163Thr missense NM_001407681.1:c.488G>C NP_001394610.1:p.Arg163Thr missense NM_001407682.1:c.488G>C NP_001394611.1:p.Arg163Thr missense NM_001407683.1:c.488G>C NP_001394612.1:p.Arg163Thr missense NM_001407684.1:c.488G>C NP_001394613.1:p.Arg163Thr missense NM_001407685.1:c.485G>C NP_001394614.1:p.Arg162Thr missense NM_001407686.1:c.485G>C NP_001394615.1:p.Arg162Thr missense NM_001407687.1:c.485G>C NP_001394616.1:p.Arg162Thr missense NM_001407688.1:c.485G>C NP_001394617.1:p.Arg162Thr missense NM_001407689.1:c.485G>C NP_001394618.1:p.Arg162Thr missense NM_001407690.1:c.485G>C NP_001394619.1:p.Arg162Thr missense NM_001407691.1:c.485G>C NP_001394620.1:p.Arg162Thr missense NM_001407692.1:c.347G>C NP_001394621.1:p.Arg116Thr missense NM_001407694.1:c.347G>C NP_001394623.1:p.Arg116Thr missense NM_001407695.1:c.347G>C NP_001394624.1:p.Arg116Thr missense NM_001407696.1:c.347G>C NP_001394625.1:p.Arg116Thr missense NM_001407697.1:c.347G>C NP_001394626.1:p.Arg116Thr missense NM_001407698.1:c.347G>C NP_001394627.1:p.Arg116Thr missense NM_001407724.1:c.347G>C NP_001394653.1:p.Arg116Thr missense NM_001407725.1:c.347G>C NP_001394654.1:p.Arg116Thr missense NM_001407726.1:c.347G>C NP_001394655.1:p.Arg116Thr missense NM_001407727.1:c.347G>C NP_001394656.1:p.Arg116Thr missense NM_001407728.1:c.347G>C NP_001394657.1:p.Arg116Thr missense NM_001407729.1:c.347G>C NP_001394658.1:p.Arg116Thr missense NM_001407730.1:c.347G>C NP_001394659.1:p.Arg116Thr missense NM_001407731.1:c.347G>C NP_001394660.1:p.Arg116Thr missense NM_001407732.1:c.347G>C NP_001394661.1:p.Arg116Thr missense NM_001407733.1:c.347G>C NP_001394662.1:p.Arg116Thr missense NM_001407734.1:c.347G>C NP_001394663.1:p.Arg116Thr missense NM_001407735.1:c.347G>C NP_001394664.1:p.Arg116Thr missense NM_001407736.1:c.347G>C NP_001394665.1:p.Arg116Thr missense NM_001407737.1:c.347G>C NP_001394666.1:p.Arg116Thr missense NM_001407738.1:c.347G>C NP_001394667.1:p.Arg116Thr missense NM_001407739.1:c.347G>C NP_001394668.1:p.Arg116Thr missense NM_001407740.1:c.344G>C NP_001394669.1:p.Arg115Thr missense NM_001407741.1:c.344G>C NP_001394670.1:p.Arg115Thr missense NM_001407742.1:c.344G>C NP_001394671.1:p.Arg115Thr missense NM_001407743.1:c.344G>C NP_001394672.1:p.Arg115Thr missense NM_001407744.1:c.344G>C NP_001394673.1:p.Arg115Thr missense NM_001407745.1:c.344G>C NP_001394674.1:p.Arg115Thr missense NM_001407746.1:c.344G>C NP_001394675.1:p.Arg115Thr missense NM_001407747.1:c.344G>C NP_001394676.1:p.Arg115Thr missense NM_001407748.1:c.344G>C NP_001394677.1:p.Arg115Thr missense NM_001407749.1:c.344G>C NP_001394678.1:p.Arg115Thr missense NM_001407750.1:c.347G>C NP_001394679.1:p.Arg116Thr missense NM_001407751.1:c.347G>C NP_001394680.1:p.Arg116Thr missense NM_001407752.1:c.347G>C NP_001394681.1:p.Arg116Thr missense NM_001407838.1:c.344G>C NP_001394767.1:p.Arg115Thr missense NM_001407839.1:c.344G>C NP_001394768.1:p.Arg115Thr missense NM_001407841.1:c.344G>C NP_001394770.1:p.Arg115Thr missense NM_001407842.1:c.344G>C NP_001394771.1:p.Arg115Thr missense NM_001407843.1:c.344G>C NP_001394772.1:p.Arg115Thr missense NM_001407844.1:c.344G>C NP_001394773.1:p.Arg115Thr missense NM_001407845.1:c.344G>C NP_001394774.1:p.Arg115Thr missense NM_001407846.1:c.344G>C NP_001394775.1:p.Arg115Thr missense NM_001407847.1:c.344G>C NP_001394776.1:p.Arg115Thr missense NM_001407848.1:c.344G>C NP_001394777.1:p.Arg115Thr missense NM_001407849.1:c.344G>C NP_001394778.1:p.Arg115Thr missense NM_001407850.1:c.347G>C NP_001394779.1:p.Arg116Thr missense NM_001407851.1:c.347G>C NP_001394780.1:p.Arg116Thr missense NM_001407852.1:c.347G>C NP_001394781.1:p.Arg116Thr missense NM_001407853.1:c.275G>C NP_001394782.1:p.Arg92Thr missense NM_001407854.1:c.488G>C NP_001394783.1:p.Arg163Thr missense NM_001407858.1:c.488G>C NP_001394787.1:p.Arg163Thr missense NM_001407859.1:c.488G>C NP_001394788.1:p.Arg163Thr missense NM_001407860.1:c.485G>C NP_001394789.1:p.Arg162Thr missense NM_001407861.1:c.485G>C NP_001394790.1:p.Arg162Thr missense NM_001407862.1:c.410G>C NP_001394791.1:p.Arg137Thr missense NM_001407863.1:c.488G>C NP_001394792.1:p.Arg163Thr missense NM_001407874.1:c.407G>C NP_001394803.1:p.Arg136Thr missense NM_001407875.1:c.407G>C NP_001394804.1:p.Arg136Thr missense NM_001407879.1:c.278G>C NP_001394808.1:p.Arg93Thr missense NM_001407881.1:c.278G>C NP_001394810.1:p.Arg93Thr missense NM_001407882.1:c.278G>C NP_001394811.1:p.Arg93Thr missense NM_001407884.1:c.278G>C NP_001394813.1:p.Arg93Thr missense NM_001407885.1:c.278G>C NP_001394814.1:p.Arg93Thr missense NM_001407886.1:c.278G>C NP_001394815.1:p.Arg93Thr missense NM_001407887.1:c.278G>C NP_001394816.1:p.Arg93Thr missense NM_001407889.1:c.278G>C NP_001394818.1:p.Arg93Thr missense NM_001407894.1:c.275G>C NP_001394823.1:p.Arg92Thr missense NM_001407895.1:c.275G>C NP_001394824.1:p.Arg92Thr missense NM_001407896.1:c.275G>C NP_001394825.1:p.Arg92Thr missense NM_001407897.1:c.275G>C NP_001394826.1:p.Arg92Thr missense NM_001407898.1:c.275G>C NP_001394827.1:p.Arg92Thr missense NM_001407899.1:c.275G>C NP_001394828.1:p.Arg92Thr missense NM_001407900.1:c.278G>C NP_001394829.1:p.Arg93Thr missense NM_001407902.1:c.278G>C NP_001394831.1:p.Arg93Thr missense NM_001407904.1:c.278G>C NP_001394833.1:p.Arg93Thr missense NM_001407906.1:c.278G>C NP_001394835.1:p.Arg93Thr missense NM_001407907.1:c.278G>C NP_001394836.1:p.Arg93Thr missense NM_001407908.1:c.278G>C NP_001394837.1:p.Arg93Thr missense NM_001407909.1:c.278G>C NP_001394838.1:p.Arg93Thr missense NM_001407910.1:c.278G>C NP_001394839.1:p.Arg93Thr missense NM_001407915.1:c.275G>C NP_001394844.1:p.Arg92Thr missense NM_001407916.1:c.275G>C NP_001394845.1:p.Arg92Thr missense NM_001407917.1:c.275G>C NP_001394846.1:p.Arg92Thr missense NM_001407918.1:c.275G>C NP_001394847.1:p.Arg92Thr missense NM_001407919.1:c.488G>C NP_001394848.1:p.Arg163Thr missense NM_001407920.1:c.347G>C NP_001394849.1:p.Arg116Thr missense NM_001407921.1:c.347G>C NP_001394850.1:p.Arg116Thr missense NM_001407922.1:c.347G>C NP_001394851.1:p.Arg116Thr missense NM_001407923.1:c.347G>C NP_001394852.1:p.Arg116Thr missense NM_001407924.1:c.347G>C NP_001394853.1:p.Arg116Thr missense NM_001407925.1:c.347G>C NP_001394854.1:p.Arg116Thr missense NM_001407926.1:c.347G>C NP_001394855.1:p.Arg116Thr missense NM_001407927.1:c.347G>C NP_001394856.1:p.Arg116Thr missense NM_001407928.1:c.347G>C NP_001394857.1:p.Arg116Thr missense NM_001407929.1:c.347G>C NP_001394858.1:p.Arg116Thr missense NM_001407930.1:c.344G>C NP_001394859.1:p.Arg115Thr missense NM_001407931.1:c.344G>C NP_001394860.1:p.Arg115Thr missense NM_001407932.1:c.344G>C NP_001394861.1:p.Arg115Thr missense NM_001407933.1:c.347G>C NP_001394862.1:p.Arg116Thr missense NM_001407934.1:c.344G>C NP_001394863.1:p.Arg115Thr missense NM_001407935.1:c.347G>C NP_001394864.1:p.Arg116Thr missense NM_001407936.1:c.344G>C NP_001394865.1:p.Arg115Thr missense NM_001407937.1:c.488G>C NP_001394866.1:p.Arg163Thr missense NM_001407938.1:c.488G>C NP_001394867.1:p.Arg163Thr missense NM_001407939.1:c.488G>C NP_001394868.1:p.Arg163Thr missense NM_001407940.1:c.485G>C NP_001394869.1:p.Arg162Thr missense NM_001407941.1:c.485G>C NP_001394870.1:p.Arg162Thr missense NM_001407942.1:c.347G>C NP_001394871.1:p.Arg116Thr missense NM_001407943.1:c.344G>C NP_001394872.1:p.Arg115Thr missense NM_001407944.1:c.347G>C NP_001394873.1:p.Arg116Thr missense NM_001407945.1:c.347G>C NP_001394874.1:p.Arg116Thr missense NM_001407946.1:c.278G>C NP_001394875.1:p.Arg93Thr missense NM_001407947.1:c.278G>C NP_001394876.1:p.Arg93Thr missense NM_001407948.1:c.278G>C NP_001394877.1:p.Arg93Thr missense NM_001407949.1:c.278G>C NP_001394878.1:p.Arg93Thr missense NM_001407950.1:c.278G>C NP_001394879.1:p.Arg93Thr missense NM_001407951.1:c.278G>C NP_001394880.1:p.Arg93Thr missense NM_001407952.1:c.278G>C NP_001394881.1:p.Arg93Thr missense NM_001407953.1:c.278G>C NP_001394882.1:p.Arg93Thr missense NM_001407954.1:c.275G>C NP_001394883.1:p.Arg92Thr missense NM_001407955.1:c.275G>C NP_001394884.1:p.Arg92Thr missense NM_001407956.1:c.275G>C NP_001394885.1:p.Arg92Thr missense NM_001407957.1:c.278G>C NP_001394886.1:p.Arg93Thr missense NM_001407958.1:c.275G>C NP_001394887.1:p.Arg92Thr missense NM_001407959.1:c.107G>C NP_001394888.1:p.Arg36Thr missense NM_001407960.1:c.107G>C NP_001394889.1:p.Arg36Thr missense NM_001407962.1:c.104G>C NP_001394891.1:p.Arg35Thr missense NM_001407963.1:c.107G>C NP_001394892.1:p.Arg36Thr missense NM_001407964.1:c.344G>C NP_001394893.1:p.Arg115Thr missense NM_001407965.1:c.107G>C NP_001394894.1:p.Arg36Thr missense NM_001407968.1:c.488G>C NP_001394897.1:p.Arg163Thr missense NM_001407969.1:c.488G>C NP_001394898.1:p.Arg163Thr missense NM_001407970.1:c.488G>C NP_001394899.1:p.Arg163Thr missense NM_001407971.1:c.488G>C NP_001394900.1:p.Arg163Thr missense NM_001407972.1:c.485G>C NP_001394901.1:p.Arg162Thr missense NM_001407973.1:c.488G>C NP_001394902.1:p.Arg163Thr missense NM_001407974.1:c.488G>C NP_001394903.1:p.Arg163Thr missense NM_001407975.1:c.488G>C NP_001394904.1:p.Arg163Thr missense NM_001407976.1:c.488G>C NP_001394905.1:p.Arg163Thr missense NM_001407977.1:c.488G>C NP_001394906.1:p.Arg163Thr missense NM_001407978.1:c.488G>C NP_001394907.1:p.Arg163Thr missense NM_001407979.1:c.488G>C NP_001394908.1:p.Arg163Thr missense NM_001407980.1:c.488G>C NP_001394909.1:p.Arg163Thr missense NM_001407981.1:c.488G>C NP_001394910.1:p.Arg163Thr missense NM_001407982.1:c.488G>C NP_001394911.1:p.Arg163Thr missense NM_001407983.1:c.488G>C NP_001394912.1:p.Arg163Thr missense NM_001407984.1:c.485G>C NP_001394913.1:p.Arg162Thr missense NM_001407985.1:c.485G>C NP_001394914.1:p.Arg162Thr missense NM_001407986.1:c.485G>C NP_001394915.1:p.Arg162Thr missense NM_001407990.1:c.488G>C NP_001394919.1:p.Arg163Thr missense NM_001407991.1:c.485G>C NP_001394920.1:p.Arg162Thr missense NM_001407992.1:c.485G>C NP_001394921.1:p.Arg162Thr missense NM_001407993.1:c.488G>C NP_001394922.1:p.Arg163Thr missense NM_001408392.1:c.485G>C NP_001395321.1:p.Arg162Thr missense NM_001408396.1:c.485G>C NP_001395325.1:p.Arg162Thr missense NM_001408397.1:c.485G>C NP_001395326.1:p.Arg162Thr missense NM_001408398.1:c.485G>C NP_001395327.1:p.Arg162Thr missense NM_001408399.1:c.485G>C NP_001395328.1:p.Arg162Thr missense NM_001408400.1:c.485G>C NP_001395329.1:p.Arg162Thr missense NM_001408401.1:c.485G>C NP_001395330.1:p.Arg162Thr missense NM_001408402.1:c.485G>C NP_001395331.1:p.Arg162Thr missense NM_001408403.1:c.488G>C NP_001395332.1:p.Arg163Thr missense NM_001408404.1:c.488G>C NP_001395333.1:p.Arg163Thr missense NM_001408406.1:c.488G>C NP_001395335.1:p.Arg163Thr missense NM_001408407.1:c.485G>C NP_001395336.1:p.Arg162Thr missense NM_001408408.1:c.479G>C NP_001395337.1:p.Arg160Thr missense NM_001408409.1:c.410G>C NP_001395338.1:p.Arg137Thr missense NM_001408410.1:c.347G>C NP_001395339.1:p.Arg116Thr missense NM_001408411.1:c.410G>C NP_001395340.1:p.Arg137Thr missense NM_001408412.1:c.410G>C NP_001395341.1:p.Arg137Thr missense NM_001408413.1:c.407G>C NP_001395342.1:p.Arg136Thr missense NM_001408414.1:c.410G>C NP_001395343.1:p.Arg137Thr missense NM_001408415.1:c.410G>C NP_001395344.1:p.Arg137Thr missense NM_001408416.1:c.407G>C NP_001395345.1:p.Arg136Thr missense NM_001408418.1:c.488G>C NP_001395347.1:p.Arg163Thr missense NM_001408419.1:c.488G>C NP_001395348.1:p.Arg163Thr missense NM_001408420.1:c.488G>C NP_001395349.1:p.Arg163Thr missense NM_001408421.1:c.485G>C NP_001395350.1:p.Arg162Thr missense NM_001408422.1:c.488G>C NP_001395351.1:p.Arg163Thr missense NM_001408423.1:c.488G>C NP_001395352.1:p.Arg163Thr missense NM_001408424.1:c.485G>C NP_001395353.1:p.Arg162Thr missense NM_001408425.1:c.488G>C NP_001395354.1:p.Arg163Thr missense NM_001408426.1:c.488G>C NP_001395355.1:p.Arg163Thr missense NM_001408427.1:c.488G>C NP_001395356.1:p.Arg163Thr missense NM_001408428.1:c.488G>C NP_001395357.1:p.Arg163Thr missense NM_001408429.1:c.488G>C NP_001395358.1:p.Arg163Thr missense NM_001408430.1:c.488G>C NP_001395359.1:p.Arg163Thr missense NM_001408431.1:c.485G>C NP_001395360.1:p.Arg162Thr missense NM_001408432.1:c.485G>C NP_001395361.1:p.Arg162Thr missense NM_001408433.1:c.485G>C NP_001395362.1:p.Arg162Thr missense NM_001408434.1:c.485G>C NP_001395363.1:p.Arg162Thr missense NM_001408435.1:c.485G>C NP_001395364.1:p.Arg162Thr missense NM_001408436.1:c.488G>C NP_001395365.1:p.Arg163Thr missense NM_001408437.1:c.488G>C NP_001395366.1:p.Arg163Thr missense NM_001408438.1:c.488G>C NP_001395367.1:p.Arg163Thr missense NM_001408439.1:c.488G>C NP_001395368.1:p.Arg163Thr missense NM_001408440.1:c.488G>C NP_001395369.1:p.Arg163Thr missense NM_001408441.1:c.488G>C NP_001395370.1:p.Arg163Thr missense NM_001408442.1:c.488G>C NP_001395371.1:p.Arg163Thr missense NM_001408443.1:c.488G>C NP_001395372.1:p.Arg163Thr missense NM_001408444.1:c.488G>C NP_001395373.1:p.Arg163Thr missense NM_001408445.1:c.485G>C NP_001395374.1:p.Arg162Thr missense NM_001408446.1:c.485G>C NP_001395375.1:p.Arg162Thr missense NM_001408447.1:c.485G>C NP_001395376.1:p.Arg162Thr missense NM_001408448.1:c.485G>C NP_001395377.1:p.Arg162Thr missense NM_001408450.1:c.485G>C NP_001395379.1:p.Arg162Thr missense NM_001408451.1:c.353G>C NP_001395380.1:p.Arg118Thr missense NM_001408452.1:c.347G>C NP_001395381.1:p.Arg116Thr missense NM_001408453.1:c.347G>C NP_001395382.1:p.Arg116Thr missense NM_001408454.1:c.347G>C NP_001395383.1:p.Arg116Thr missense NM_001408455.1:c.347G>C NP_001395384.1:p.Arg116Thr missense NM_001408456.1:c.347G>C NP_001395385.1:p.Arg116Thr missense NM_001408457.1:c.347G>C NP_001395386.1:p.Arg116Thr missense NM_001408458.1:c.347G>C NP_001395387.1:p.Arg116Thr missense NM_001408459.1:c.347G>C NP_001395388.1:p.Arg116Thr missense NM_001408460.1:c.347G>C NP_001395389.1:p.Arg116Thr missense NM_001408461.1:c.347G>C NP_001395390.1:p.Arg116Thr missense NM_001408462.1:c.344G>C NP_001395391.1:p.Arg115Thr missense NM_001408463.1:c.344G>C NP_001395392.1:p.Arg115Thr missense NM_001408464.1:c.344G>C NP_001395393.1:p.Arg115Thr missense NM_001408465.1:c.344G>C NP_001395394.1:p.Arg115Thr missense NM_001408466.1:c.347G>C NP_001395395.1:p.Arg116Thr missense NM_001408467.1:c.347G>C NP_001395396.1:p.Arg116Thr missense NM_001408468.1:c.344G>C NP_001395397.1:p.Arg115Thr missense NM_001408469.1:c.347G>C NP_001395398.1:p.Arg116Thr missense NM_001408470.1:c.344G>C NP_001395399.1:p.Arg115Thr missense NM_001408472.1:c.488G>C NP_001395401.1:p.Arg163Thr missense NM_001408473.1:c.485G>C NP_001395402.1:p.Arg162Thr missense NM_001408474.1:c.410G>C NP_001395403.1:p.Arg137Thr missense NM_001408475.1:c.407G>C NP_001395404.1:p.Arg136Thr missense NM_001408476.1:c.410G>C NP_001395405.1:p.Arg137Thr missense NM_001408478.1:c.278G>C NP_001395407.1:p.Arg93Thr missense NM_001408479.1:c.278G>C NP_001395408.1:p.Arg93Thr missense NM_001408480.1:c.278G>C NP_001395409.1:p.Arg93Thr missense NM_001408481.1:c.278G>C NP_001395410.1:p.Arg93Thr missense NM_001408482.1:c.278G>C NP_001395411.1:p.Arg93Thr missense NM_001408483.1:c.278G>C NP_001395412.1:p.Arg93Thr missense NM_001408484.1:c.278G>C NP_001395413.1:p.Arg93Thr missense NM_001408485.1:c.278G>C NP_001395414.1:p.Arg93Thr missense NM_001408489.1:c.278G>C NP_001395418.1:p.Arg93Thr missense NM_001408490.1:c.275G>C NP_001395419.1:p.Arg92Thr missense NM_001408491.1:c.275G>C NP_001395420.1:p.Arg92Thr missense NM_001408492.1:c.278G>C NP_001395421.1:p.Arg93Thr missense NM_001408493.1:c.275G>C NP_001395422.1:p.Arg92Thr missense NM_001408494.1:c.488G>C NP_001395423.1:p.Arg163Thr missense NM_001408495.1:c.485G>C NP_001395424.1:p.Arg162Thr missense NM_001408496.1:c.347G>C NP_001395425.1:p.Arg116Thr missense NM_001408497.1:c.347G>C NP_001395426.1:p.Arg116Thr missense NM_001408498.1:c.347G>C NP_001395427.1:p.Arg116Thr missense NM_001408499.1:c.347G>C NP_001395428.1:p.Arg116Thr missense NM_001408500.1:c.347G>C NP_001395429.1:p.Arg116Thr missense NM_001408501.1:c.347G>C NP_001395430.1:p.Arg116Thr missense NM_001408502.1:c.278G>C NP_001395431.1:p.Arg93Thr missense NM_001408503.1:c.344G>C NP_001395432.1:p.Arg115Thr missense NM_001408504.1:c.344G>C NP_001395433.1:p.Arg115Thr missense NM_001408505.1:c.344G>C NP_001395434.1:p.Arg115Thr missense NM_001408506.1:c.278G>C NP_001395435.1:p.Arg93Thr missense NM_001408507.1:c.278G>C NP_001395436.1:p.Arg93Thr missense NM_001408508.1:c.275G>C NP_001395437.1:p.Arg92Thr missense NM_001408509.1:c.275G>C NP_001395438.1:p.Arg92Thr missense NM_001408510.1:c.107G>C NP_001395439.1:p.Arg36Thr missense NM_001408511.1:c.344G>C NP_001395440.1:p.Arg115Thr missense NM_001408512.1:c.107G>C NP_001395441.1:p.Arg36Thr missense NM_001408513.1:c.278G>C NP_001395442.1:p.Arg93Thr missense NM_001408514.1:c.278G>C NP_001395443.1:p.Arg93Thr missense NM_007297.4:c.347G>C NP_009228.2:p.Arg116Thr missense NM_007298.4:c.488G>C NP_009229.2:p.Arg163Thr missense NM_007299.4:c.488G>C NP_009230.2:p.Arg163Thr missense NM_007300.4:c.488G>C NP_009231.2:p.Arg163Thr missense NM_007304.2:c.488G>C NP_009235.2:p.Arg163Thr missense NR_027676.2:n.665G>C non-coding transcript variant NC_000017.11:g.43099834C>G NC_000017.10:g.41251851C>G NG_005905.2:g.118150G>C LRG_292:g.118150G>C LRG_292t1:c.488G>C LRG_292p1:p.Arg163Thr - Protein change
- R163T, R116T, R137T, R162T, R93T, R115T, R36T, R136T, R35T, R92T, R118T, R160T
- Other names
- -
- Canonical SPDI
- NC_000017.11:43099833:C: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.
Trans-Omics for Precision Medicine (TOPMed) 0.00000
The Genome Aggregation Database (gnomAD) 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 |
12876 | 14661 |
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. |
---|---|---|---|---|
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
|
Jan 21, 2024 | RCV000637637.13 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Aug 15, 2020 | RCV000759551.3 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Oct 20, 2017 | RCV000779868.2 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
|
Aug 28, 2023 | RCV000989909.4 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
|
Aug 21, 2023 | RCV001023205.10 |
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. |
|
---|---|---|---|---|---|
Uncertain significance
(Oct 20, 2017)
|
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: SCV000916739.1
First in ClinVar: Jun 02, 2019 Last updated: Jun 02, 2019 |
Comment:
Variant summary: The BRCA1 c.488G>C (p.Arg163Thr) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant, … (more)
Variant summary: The BRCA1 c.488G>C (p.Arg163Thr) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant, however the impact of this change on protein function is yet to be studied. This variant is absent in 277220 control chromosomes. The variant of interest has been reported in at least one unaffected individual from HBCO family without strong evidence for causality (Santonocito_2017). Due to insufficient evidence, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available. (less)
|
|
Uncertain significance
(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: SCV001140634.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
|
|
Uncertain significance
(Aug 15, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888934.2
First in ClinVar: Mar 14, 2019 Last updated: Jan 26, 2021 |
|
|
Uncertain significance
(Nov 01, 2021)
|
criteria provided, single submitter
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Genetics Program, Instituto Nacional de Cancer
Accession: SCV002515121.1
First in ClinVar: Nov 19, 2022 Last updated: Nov 19, 2022 |
Geographic origin: Brazil
|
|
Uncertain significance
(Aug 21, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV001353307.3
First in ClinVar: Jun 22, 2020 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces arginine with threonine at codon 163 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces arginine with threonine at codon 163 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 reported in two individuals affected with breast and/or ovarian cancer (PMID: 32438681, 36329109) and in a suspected hereditary breast and ovarian cancer family (PMID: 30675319). 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)
|
|
Uncertain significance
(Jan 21, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000759104.7
First in ClinVar: May 28, 2018 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 163 of the BRCA1 protein (p.Arg163Thr). … (more)
This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 163 of the BRCA1 protein (p.Arg163Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with a personal and/or family history of breast and/or ovarian cancer (PMID: 29020660, 30675319, 32438681, 36329109). ClinVar contains an entry for this variant (Variation ID: 531359). 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)
|
|
Uncertain significance
(Feb 10, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV001185047.5
First in ClinVar: Mar 16, 2020 Last updated: May 01, 2024 |
Comment:
The p.R163T variant (also known as c.488G>C), located in coding exon 6 of the BRCA1 gene, results from a G to C substitution at nucleotide … (more)
The p.R163T variant (also known as c.488G>C), located in coding exon 6 of the BRCA1 gene, results from a G to C substitution at nucleotide position 488. The arginine at codon 163 is replaced by threonine, an amino acid with similar properties. This alteration has been identified in multiple individuals with a personal and/or family history of breast and/or ovarian cancer (Santonocito C et al. Breast, 2017 Dec;36:74-78; Farra C et al. Hered Cancer Clin Pract, 2019 Jan;17:4; Santonocito C et al. Cancers (Basel), 2020 May;12:; Matta BP et al. Sci Rep, 2022 Nov;12:18629). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
|
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Uncertain Significance
(Aug 28, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004818447.1
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)
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Comment:
This missense variant replaces arginine with threonine at codon 163 of the BRCA1 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact … (more)
This missense variant replaces arginine with threonine at codon 163 of the BRCA1 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant. This variant has been observed in two individuals who underwent BRCA mutation testing in cohorts with personal or family history of BRCA-associated cancers (PMID: 29020660, 30675319). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). 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)
Number of individuals with the variant: 2
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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 |
---|---|---|---|---|
Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service. | Matta BP | Scientific reports | 2022 | PMID: 36329109 |
Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome. | Santonocito C | Cancers | 2020 | PMID: 32438681 |
BRCA mutation screening and patterns among high-risk Lebanese subjects. | Farra C | Hereditary cancer in clinical practice | 2019 | PMID: 30675319 |
Identification of twenty-nine novel germline unclassified variants of BRCA1 and BRCA2 genes in 1400 Italian individuals. | Santonocito C | Breast (Edinburgh, Scotland) | 2017 | PMID: 29020660 |
Text-mined citations for rs1369043501 ...
HelpRecord last updated May 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.