ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4199T>C (p.Met1400Thr)
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.4199T>C (p.Met1400Thr)
Variation ID: 55138 Accession: VCV000055138.23
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43082562 (GRCh38) [ NCBI UCSC ] 17: 41234579 (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 Aug 3, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4199T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Met1400Thr missense NM_001407571.1:c.3986T>C NP_001394500.1:p.Met1329Thr missense NM_001407581.1:c.4199T>C NP_001394510.1:p.Met1400Thr missense NM_001407582.1:c.4199T>C NP_001394511.1:p.Met1400Thr missense NM_001407583.1:c.4199T>C NP_001394512.1:p.Met1400Thr missense NM_001407585.1:c.4199T>C NP_001394514.1:p.Met1400Thr missense NM_001407587.1:c.4196T>C NP_001394516.1:p.Met1399Thr missense NM_001407590.1:c.4196T>C NP_001394519.1:p.Met1399Thr missense NM_001407591.1:c.4196T>C NP_001394520.1:p.Met1399Thr missense NM_001407593.1:c.4199T>C NP_001394522.1:p.Met1400Thr missense NM_001407594.1:c.4199T>C NP_001394523.1:p.Met1400Thr missense NM_001407596.1:c.4199T>C NP_001394525.1:p.Met1400Thr missense NM_001407597.1:c.4199T>C NP_001394526.1:p.Met1400Thr missense NM_001407598.1:c.4199T>C NP_001394527.1:p.Met1400Thr missense NM_001407602.1:c.4199T>C NP_001394531.1:p.Met1400Thr missense NM_001407603.1:c.4199T>C NP_001394532.1:p.Met1400Thr missense NM_001407605.1:c.4199T>C NP_001394534.1:p.Met1400Thr missense NM_001407610.1:c.4196T>C NP_001394539.1:p.Met1399Thr missense NM_001407611.1:c.4196T>C NP_001394540.1:p.Met1399Thr missense NM_001407612.1:c.4196T>C NP_001394541.1:p.Met1399Thr missense NM_001407613.1:c.4196T>C NP_001394542.1:p.Met1399Thr missense NM_001407614.1:c.4196T>C NP_001394543.1:p.Met1399Thr missense NM_001407615.1:c.4196T>C NP_001394544.1:p.Met1399Thr missense NM_001407616.1:c.4199T>C NP_001394545.1:p.Met1400Thr missense NM_001407617.1:c.4199T>C NP_001394546.1:p.Met1400Thr missense NM_001407618.1:c.4199T>C NP_001394547.1:p.Met1400Thr missense NM_001407619.1:c.4199T>C NP_001394548.1:p.Met1400Thr missense NM_001407620.1:c.4199T>C NP_001394549.1:p.Met1400Thr missense NM_001407621.1:c.4199T>C NP_001394550.1:p.Met1400Thr missense NM_001407622.1:c.4199T>C NP_001394551.1:p.Met1400Thr missense NM_001407623.1:c.4199T>C NP_001394552.1:p.Met1400Thr missense NM_001407624.1:c.4196T>C NP_001394553.1:p.Met1399Thr missense NM_001407625.1:c.4196T>C NP_001394554.1:p.Met1399Thr missense NM_001407626.1:c.4196T>C NP_001394555.1:p.Met1399Thr missense NM_001407627.1:c.4193T>C NP_001394556.1:p.Met1398Thr missense NM_001407628.1:c.4193T>C NP_001394557.1:p.Met1398Thr missense NM_001407629.1:c.4193T>C NP_001394558.1:p.Met1398Thr missense NM_001407630.1:c.4193T>C NP_001394559.1:p.Met1398Thr missense NM_001407631.1:c.4193T>C NP_001394560.1:p.Met1398Thr missense NM_001407632.1:c.4193T>C NP_001394561.1:p.Met1398Thr missense NM_001407633.1:c.4196T>C NP_001394562.1:p.Met1399Thr missense NM_001407634.1:c.4196T>C NP_001394563.1:p.Met1399Thr missense NM_001407635.1:c.4196T>C NP_001394564.1:p.Met1399Thr missense NM_001407636.1:c.4196T>C NP_001394565.1:p.Met1399Thr missense NM_001407637.1:c.4196T>C NP_001394566.1:p.Met1399Thr missense NM_001407638.1:c.4196T>C NP_001394567.1:p.Met1399Thr missense NM_001407639.1:c.4196T>C NP_001394568.1:p.Met1399Thr missense NM_001407640.1:c.4196T>C NP_001394569.1:p.Met1399Thr missense NM_001407641.1:c.4196T>C NP_001394570.1:p.Met1399Thr missense NM_001407642.1:c.4196T>C NP_001394571.1:p.Met1399Thr missense NM_001407644.1:c.4193T>C NP_001394573.1:p.Met1398Thr missense NM_001407645.1:c.4193T>C NP_001394574.1:p.Met1398Thr missense NM_001407646.1:c.4187T>C NP_001394575.1:p.Met1396Thr missense NM_001407647.1:c.4187T>C NP_001394576.1:p.Met1396Thr missense NM_001407648.1:c.4076T>C NP_001394577.1:p.Met1359Thr missense NM_001407649.1:c.4073T>C NP_001394578.1:p.Met1358Thr missense NM_001407652.1:c.4199T>C NP_001394581.1:p.Met1400Thr missense NM_001407653.1:c.4121T>C NP_001394582.1:p.Met1374Thr missense NM_001407654.1:c.4121T>C NP_001394583.1:p.Met1374Thr missense NM_001407655.1:c.4121T>C NP_001394584.1:p.Met1374Thr missense NM_001407656.1:c.4118T>C NP_001394585.1:p.Met1373Thr missense NM_001407657.1:c.4121T>C NP_001394586.1:p.Met1374Thr missense NM_001407658.1:c.4121T>C NP_001394587.1:p.Met1374Thr missense NM_001407659.1:c.4115T>C NP_001394588.1:p.Met1372Thr missense NM_001407660.1:c.4115T>C NP_001394589.1:p.Met1372Thr missense NM_001407661.1:c.4118T>C NP_001394590.1:p.Met1373Thr missense NM_001407662.1:c.4118T>C NP_001394591.1:p.Met1373Thr missense NM_001407663.1:c.4118T>C NP_001394592.1:p.Met1373Thr missense NM_001407664.1:c.4076T>C NP_001394593.1:p.Met1359Thr missense NM_001407665.1:c.4076T>C NP_001394594.1:p.Met1359Thr missense NM_001407666.1:c.4076T>C NP_001394595.1:p.Met1359Thr missense NM_001407667.1:c.4076T>C NP_001394596.1:p.Met1359Thr missense NM_001407668.1:c.4076T>C NP_001394597.1:p.Met1359Thr missense NM_001407669.1:c.4076T>C NP_001394598.1:p.Met1359Thr missense NM_001407670.1:c.4073T>C NP_001394599.1:p.Met1358Thr missense NM_001407671.1:c.4073T>C NP_001394600.1:p.Met1358Thr missense NM_001407672.1:c.4073T>C NP_001394601.1:p.Met1358Thr missense NM_001407673.1:c.4073T>C NP_001394602.1:p.Met1358Thr missense NM_001407674.1:c.4073T>C NP_001394603.1:p.Met1358Thr missense NM_001407675.1:c.4073T>C NP_001394604.1:p.Met1358Thr missense NM_001407676.1:c.4073T>C NP_001394605.1:p.Met1358Thr missense NM_001407677.1:c.4076T>C NP_001394606.1:p.Met1359Thr missense NM_001407678.1:c.4076T>C NP_001394607.1:p.Met1359Thr missense NM_001407679.1:c.4076T>C NP_001394608.1:p.Met1359Thr missense NM_001407680.1:c.4076T>C NP_001394609.1:p.Met1359Thr missense NM_001407681.1:c.4073T>C NP_001394610.1:p.Met1358Thr missense NM_001407682.1:c.4073T>C NP_001394611.1:p.Met1358Thr missense NM_001407683.1:c.4073T>C NP_001394612.1:p.Met1358Thr missense NM_001407684.1:c.4199T>C NP_001394613.1:p.Met1400Thr missense NM_001407685.1:c.4070T>C NP_001394614.1:p.Met1357Thr missense NM_001407686.1:c.4070T>C NP_001394615.1:p.Met1357Thr missense NM_001407687.1:c.4070T>C NP_001394616.1:p.Met1357Thr missense NM_001407688.1:c.4073T>C NP_001394617.1:p.Met1358Thr missense NM_001407689.1:c.4073T>C NP_001394618.1:p.Met1358Thr missense NM_001407690.1:c.4070T>C NP_001394619.1:p.Met1357Thr missense NM_001407691.1:c.4070T>C NP_001394620.1:p.Met1357Thr missense NM_001407692.1:c.4058T>C NP_001394621.1:p.Met1353Thr missense NM_001407694.1:c.4058T>C NP_001394623.1:p.Met1353Thr missense NM_001407695.1:c.4058T>C NP_001394624.1:p.Met1353Thr missense NM_001407696.1:c.4058T>C NP_001394625.1:p.Met1353Thr missense NM_001407697.1:c.4058T>C NP_001394626.1:p.Met1353Thr missense NM_001407698.1:c.4058T>C NP_001394627.1:p.Met1353Thr missense NM_001407724.1:c.4058T>C NP_001394653.1:p.Met1353Thr missense NM_001407725.1:c.4058T>C NP_001394654.1:p.Met1353Thr missense NM_001407726.1:c.4058T>C NP_001394655.1:p.Met1353Thr missense NM_001407727.1:c.4058T>C NP_001394656.1:p.Met1353Thr missense NM_001407728.1:c.4058T>C NP_001394657.1:p.Met1353Thr missense NM_001407729.1:c.4058T>C NP_001394658.1:p.Met1353Thr missense NM_001407730.1:c.4058T>C NP_001394659.1:p.Met1353Thr missense NM_001407731.1:c.4058T>C NP_001394660.1:p.Met1353Thr missense NM_001407732.1:c.4058T>C NP_001394661.1:p.Met1353Thr missense NM_001407733.1:c.4058T>C NP_001394662.1:p.Met1353Thr missense NM_001407734.1:c.4058T>C NP_001394663.1:p.Met1353Thr missense NM_001407735.1:c.4058T>C NP_001394664.1:p.Met1353Thr missense NM_001407736.1:c.4058T>C NP_001394665.1:p.Met1353Thr missense NM_001407737.1:c.4058T>C NP_001394666.1:p.Met1353Thr missense NM_001407738.1:c.4058T>C NP_001394667.1:p.Met1353Thr missense NM_001407739.1:c.4058T>C NP_001394668.1:p.Met1353Thr missense NM_001407740.1:c.4055T>C NP_001394669.1:p.Met1352Thr missense NM_001407741.1:c.4055T>C NP_001394670.1:p.Met1352Thr missense NM_001407742.1:c.4055T>C NP_001394671.1:p.Met1352Thr missense NM_001407743.1:c.4055T>C NP_001394672.1:p.Met1352Thr missense NM_001407744.1:c.4055T>C NP_001394673.1:p.Met1352Thr missense NM_001407745.1:c.4055T>C NP_001394674.1:p.Met1352Thr missense NM_001407746.1:c.4055T>C NP_001394675.1:p.Met1352Thr missense NM_001407747.1:c.4055T>C NP_001394676.1:p.Met1352Thr missense NM_001407748.1:c.4055T>C NP_001394677.1:p.Met1352Thr missense NM_001407749.1:c.4055T>C NP_001394678.1:p.Met1352Thr missense NM_001407750.1:c.4055T>C NP_001394679.1:p.Met1352Thr missense NM_001407751.1:c.4055T>C NP_001394680.1:p.Met1352Thr missense NM_001407752.1:c.4055T>C NP_001394681.1:p.Met1352Thr missense NM_001407838.1:c.4055T>C NP_001394767.1:p.Met1352Thr missense NM_001407839.1:c.4055T>C NP_001394768.1:p.Met1352Thr missense NM_001407841.1:c.4055T>C NP_001394770.1:p.Met1352Thr missense NM_001407842.1:c.4055T>C NP_001394771.1:p.Met1352Thr missense NM_001407843.1:c.4055T>C NP_001394772.1:p.Met1352Thr missense NM_001407844.1:c.4055T>C NP_001394773.1:p.Met1352Thr missense NM_001407845.1:c.4055T>C NP_001394774.1:p.Met1352Thr missense NM_001407846.1:c.4055T>C NP_001394775.1:p.Met1352Thr missense NM_001407847.1:c.4052T>C NP_001394776.1:p.Met1351Thr missense NM_001407848.1:c.4052T>C NP_001394777.1:p.Met1351Thr missense NM_001407849.1:c.4052T>C NP_001394778.1:p.Met1351Thr missense NM_001407850.1:c.4055T>C NP_001394779.1:p.Met1352Thr missense NM_001407851.1:c.4055T>C NP_001394780.1:p.Met1352Thr missense NM_001407852.1:c.4055T>C NP_001394781.1:p.Met1352Thr missense NM_001407853.1:c.3986T>C NP_001394782.1:p.Met1329Thr missense NM_001407854.1:c.4199T>C NP_001394783.1:p.Met1400Thr missense NM_001407858.1:c.4199T>C NP_001394787.1:p.Met1400Thr missense NM_001407859.1:c.4199T>C NP_001394788.1:p.Met1400Thr missense NM_001407860.1:c.4196T>C NP_001394789.1:p.Met1399Thr missense NM_001407861.1:c.4196T>C NP_001394790.1:p.Met1399Thr missense NM_001407862.1:c.3998T>C NP_001394791.1:p.Met1333Thr missense NM_001407863.1:c.4076T>C NP_001394792.1:p.Met1359Thr missense NM_001407874.1:c.3995T>C NP_001394803.1:p.Met1332Thr missense NM_001407875.1:c.3995T>C NP_001394804.1:p.Met1332Thr missense NM_001407879.1:c.3989T>C NP_001394808.1:p.Met1330Thr missense NM_001407881.1:c.3989T>C NP_001394810.1:p.Met1330Thr missense NM_001407882.1:c.3989T>C NP_001394811.1:p.Met1330Thr missense NM_001407884.1:c.3989T>C NP_001394813.1:p.Met1330Thr missense NM_001407885.1:c.3989T>C NP_001394814.1:p.Met1330Thr missense NM_001407886.1:c.3989T>C NP_001394815.1:p.Met1330Thr missense NM_001407887.1:c.3989T>C NP_001394816.1:p.Met1330Thr missense NM_001407889.1:c.3989T>C NP_001394818.1:p.Met1330Thr missense NM_001407894.1:c.3986T>C NP_001394823.1:p.Met1329Thr missense NM_001407895.1:c.3986T>C NP_001394824.1:p.Met1329Thr missense NM_001407896.1:c.3986T>C NP_001394825.1:p.Met1329Thr missense NM_001407897.1:c.3986T>C NP_001394826.1:p.Met1329Thr missense NM_001407898.1:c.3986T>C NP_001394827.1:p.Met1329Thr missense NM_001407899.1:c.3986T>C NP_001394828.1:p.Met1329Thr missense NM_001407900.1:c.3989T>C NP_001394829.1:p.Met1330Thr missense NM_001407902.1:c.3989T>C NP_001394831.1:p.Met1330Thr missense NM_001407904.1:c.3989T>C NP_001394833.1:p.Met1330Thr missense NM_001407906.1:c.3989T>C NP_001394835.1:p.Met1330Thr missense NM_001407907.1:c.3986T>C NP_001394836.1:p.Met1329Thr missense NM_001407908.1:c.3986T>C NP_001394837.1:p.Met1329Thr missense NM_001407909.1:c.3986T>C NP_001394838.1:p.Met1329Thr missense NM_001407910.1:c.3986T>C NP_001394839.1:p.Met1329Thr missense NM_001407915.1:c.3983T>C NP_001394844.1:p.Met1328Thr missense NM_001407916.1:c.3986T>C NP_001394845.1:p.Met1329Thr missense NM_001407917.1:c.3986T>C NP_001394846.1:p.Met1329Thr missense NM_001407918.1:c.3986T>C NP_001394847.1:p.Met1329Thr missense NM_001407919.1:c.4076T>C NP_001394848.1:p.Met1359Thr missense NM_001407920.1:c.3935T>C NP_001394849.1:p.Met1312Thr missense NM_001407921.1:c.3935T>C NP_001394850.1:p.Met1312Thr missense NM_001407922.1:c.3935T>C NP_001394851.1:p.Met1312Thr missense NM_001407923.1:c.3935T>C NP_001394852.1:p.Met1312Thr missense NM_001407924.1:c.3935T>C NP_001394853.1:p.Met1312Thr missense NM_001407925.1:c.3935T>C NP_001394854.1:p.Met1312Thr missense NM_001407926.1:c.3935T>C NP_001394855.1:p.Met1312Thr missense NM_001407927.1:c.3935T>C NP_001394856.1:p.Met1312Thr missense NM_001407928.1:c.3935T>C NP_001394857.1:p.Met1312Thr missense NM_001407929.1:c.3935T>C NP_001394858.1:p.Met1312Thr missense NM_001407930.1:c.3932T>C NP_001394859.1:p.Met1311Thr missense NM_001407931.1:c.3932T>C NP_001394860.1:p.Met1311Thr missense NM_001407932.1:c.3932T>C NP_001394861.1:p.Met1311Thr missense NM_001407933.1:c.3932T>C NP_001394862.1:p.Met1311Thr missense NM_001407934.1:c.3929T>C NP_001394863.1:p.Met1310Thr missense NM_001407935.1:c.3932T>C NP_001394864.1:p.Met1311Thr missense NM_001407936.1:c.3932T>C NP_001394865.1:p.Met1311Thr missense NM_001407937.1:c.4076T>C NP_001394866.1:p.Met1359Thr missense NM_001407938.1:c.4076T>C NP_001394867.1:p.Met1359Thr missense NM_001407939.1:c.4076T>C NP_001394868.1:p.Met1359Thr missense NM_001407940.1:c.4073T>C NP_001394869.1:p.Met1358Thr missense NM_001407941.1:c.4073T>C NP_001394870.1:p.Met1358Thr missense NM_001407942.1:c.4058T>C NP_001394871.1:p.Met1353Thr missense NM_001407943.1:c.4055T>C NP_001394872.1:p.Met1352Thr missense NM_001407944.1:c.4058T>C NP_001394873.1:p.Met1353Thr missense NM_001407945.1:c.4058T>C NP_001394874.1:p.Met1353Thr missense NM_001407946.1:c.3866T>C NP_001394875.1:p.Met1289Thr missense NM_001407947.1:c.3866T>C NP_001394876.1:p.Met1289Thr missense NM_001407948.1:c.3866T>C NP_001394877.1:p.Met1289Thr missense NM_001407949.1:c.3866T>C NP_001394878.1:p.Met1289Thr missense NM_001407950.1:c.3866T>C NP_001394879.1:p.Met1289Thr missense NM_001407951.1:c.3866T>C NP_001394880.1:p.Met1289Thr missense NM_001407952.1:c.3863T>C NP_001394881.1:p.Met1288Thr missense NM_001407953.1:c.3863T>C NP_001394882.1:p.Met1288Thr missense NM_001407954.1:c.3863T>C NP_001394883.1:p.Met1288Thr missense NM_001407955.1:c.3863T>C NP_001394884.1:p.Met1288Thr missense NM_001407956.1:c.3860T>C NP_001394885.1:p.Met1287Thr missense NM_001407957.1:c.3863T>C NP_001394886.1:p.Met1288Thr missense NM_001407958.1:c.3863T>C NP_001394887.1:p.Met1288Thr missense NM_001407959.1:c.3818T>C NP_001394888.1:p.Met1273Thr missense NM_001407960.1:c.3818T>C NP_001394889.1:p.Met1273Thr missense NM_001407962.1:c.3815T>C NP_001394891.1:p.Met1272Thr missense NM_001407963.1:c.3815T>C NP_001394892.1:p.Met1272Thr missense NM_001407964.1:c.4055T>C NP_001394893.1:p.Met1352Thr missense NM_001407965.1:c.3692T>C NP_001394894.1:p.Met1231Thr missense NM_001407966.1:c.3311T>C NP_001394895.1:p.Met1104Thr missense NM_001407967.1:c.3311T>C NP_001394896.1:p.Met1104Thr missense NM_001407968.1:c.1595T>C NP_001394897.1:p.Met532Thr missense NM_001407969.1:c.1592T>C NP_001394898.1:p.Met531Thr missense NM_001407970.1:c.890T>C NP_001394899.1:p.Met297Thr missense NM_001407971.1:c.890T>C NP_001394900.1:p.Met297Thr missense NM_001407972.1:c.887T>C NP_001394901.1:p.Met296Thr missense NM_001407973.1:c.890T>C NP_001394902.1:p.Met297Thr missense NM_001407974.1:c.890T>C NP_001394903.1:p.Met297Thr missense NM_001407975.1:c.890T>C NP_001394904.1:p.Met297Thr missense NM_001407976.1:c.890T>C NP_001394905.1:p.Met297Thr missense NM_001407977.1:c.890T>C NP_001394906.1:p.Met297Thr missense NM_001407978.1:c.890T>C NP_001394907.1:p.Met297Thr missense NM_001407979.1:c.887T>C NP_001394908.1:p.Met296Thr missense NM_001407980.1:c.887T>C NP_001394909.1:p.Met296Thr missense NM_001407981.1:c.887T>C NP_001394910.1:p.Met296Thr missense NM_001407982.1:c.887T>C NP_001394911.1:p.Met296Thr missense NM_001407983.1:c.887T>C NP_001394912.1:p.Met296Thr missense NM_001407984.1:c.887T>C NP_001394913.1:p.Met296Thr missense NM_001407985.1:c.887T>C NP_001394914.1:p.Met296Thr missense NM_001407986.1:c.887T>C NP_001394915.1:p.Met296Thr missense NM_001407990.1:c.887T>C NP_001394919.1:p.Met296Thr missense NM_001407991.1:c.887T>C NP_001394920.1:p.Met296Thr missense NM_001407992.1:c.887T>C NP_001394921.1:p.Met296Thr missense NM_001407993.1:c.890T>C NP_001394922.1:p.Met297Thr missense NM_001408392.1:c.887T>C NP_001395321.1:p.Met296Thr missense NM_001408396.1:c.887T>C NP_001395325.1:p.Met296Thr missense NM_001408397.1:c.887T>C NP_001395326.1:p.Met296Thr missense NM_001408398.1:c.887T>C NP_001395327.1:p.Met296Thr missense NM_001408399.1:c.887T>C NP_001395328.1:p.Met296Thr missense NM_001408400.1:c.884T>C NP_001395329.1:p.Met295Thr missense NM_001408401.1:c.884T>C NP_001395330.1:p.Met295Thr missense NM_001408402.1:c.884T>C NP_001395331.1:p.Met295Thr missense NM_001408403.1:c.887T>C NP_001395332.1:p.Met296Thr missense NM_001408404.1:c.887T>C NP_001395333.1:p.Met296Thr missense NM_001408406.1:c.881T>C NP_001395335.1:p.Met294Thr missense NM_001408407.1:c.884T>C NP_001395336.1:p.Met295Thr missense NM_001408408.1:c.881T>C NP_001395337.1:p.Met294Thr missense NM_001408409.1:c.812T>C NP_001395338.1:p.Met271Thr missense NM_001408410.1:c.749T>C NP_001395339.1:p.Met250Thr missense NM_001408411.1:c.812T>C NP_001395340.1:p.Met271Thr missense NM_001408412.1:c.812T>C NP_001395341.1:p.Met271Thr missense NM_001408413.1:c.809T>C NP_001395342.1:p.Met270Thr missense NM_001408414.1:c.812T>C NP_001395343.1:p.Met271Thr missense NM_001408415.1:c.812T>C NP_001395344.1:p.Met271Thr missense NM_001408416.1:c.809T>C NP_001395345.1:p.Met270Thr missense NM_001408418.1:c.773T>C NP_001395347.1:p.Met258Thr missense NM_001408419.1:c.773T>C NP_001395348.1:p.Met258Thr missense NM_001408420.1:c.773T>C NP_001395349.1:p.Met258Thr missense NM_001408421.1:c.770T>C NP_001395350.1:p.Met257Thr missense NM_001408422.1:c.773T>C NP_001395351.1:p.Met258Thr missense NM_001408423.1:c.773T>C NP_001395352.1:p.Met258Thr missense NM_001408424.1:c.770T>C NP_001395353.1:p.Met257Thr missense NM_001408425.1:c.767T>C NP_001395354.1:p.Met256Thr missense NM_001408426.1:c.767T>C NP_001395355.1:p.Met256Thr missense NM_001408427.1:c.767T>C NP_001395356.1:p.Met256Thr missense NM_001408428.1:c.767T>C NP_001395357.1:p.Met256Thr missense NM_001408429.1:c.767T>C NP_001395358.1:p.Met256Thr missense NM_001408430.1:c.767T>C NP_001395359.1:p.Met256Thr missense NM_001408431.1:c.770T>C NP_001395360.1:p.Met257Thr missense NM_001408432.1:c.764T>C NP_001395361.1:p.Met255Thr missense NM_001408433.1:c.764T>C NP_001395362.1:p.Met255Thr missense NM_001408434.1:c.764T>C NP_001395363.1:p.Met255Thr missense NM_001408435.1:c.764T>C NP_001395364.1:p.Met255Thr missense NM_001408436.1:c.767T>C NP_001395365.1:p.Met256Thr missense NM_001408437.1:c.767T>C NP_001395366.1:p.Met256Thr missense NM_001408438.1:c.767T>C NP_001395367.1:p.Met256Thr missense NM_001408439.1:c.767T>C NP_001395368.1:p.Met256Thr missense NM_001408440.1:c.767T>C NP_001395369.1:p.Met256Thr missense NM_001408441.1:c.764T>C NP_001395370.1:p.Met255Thr missense NM_001408442.1:c.764T>C NP_001395371.1:p.Met255Thr missense NM_001408443.1:c.764T>C NP_001395372.1:p.Met255Thr missense NM_001408444.1:c.764T>C NP_001395373.1:p.Met255Thr missense NM_001408445.1:c.764T>C NP_001395374.1:p.Met255Thr missense NM_001408446.1:c.764T>C NP_001395375.1:p.Met255Thr missense NM_001408447.1:c.764T>C NP_001395376.1:p.Met255Thr missense NM_001408448.1:c.764T>C NP_001395377.1:p.Met255Thr missense NM_001408450.1:c.764T>C NP_001395379.1:p.Met255Thr missense NM_001408451.1:c.755T>C NP_001395380.1:p.Met252Thr missense NM_001408452.1:c.749T>C NP_001395381.1:p.Met250Thr missense NM_001408453.1:c.749T>C NP_001395382.1:p.Met250Thr missense NM_001408454.1:c.749T>C NP_001395383.1:p.Met250Thr missense NM_001408455.1:c.749T>C NP_001395384.1:p.Met250Thr missense NM_001408456.1:c.749T>C NP_001395385.1:p.Met250Thr missense NM_001408457.1:c.749T>C NP_001395386.1:p.Met250Thr missense NM_001408458.1:c.749T>C NP_001395387.1:p.Met250Thr missense NM_001408459.1:c.749T>C NP_001395388.1:p.Met250Thr missense NM_001408460.1:c.749T>C NP_001395389.1:p.Met250Thr missense NM_001408461.1:c.749T>C NP_001395390.1:p.Met250Thr missense NM_001408462.1:c.746T>C NP_001395391.1:p.Met249Thr missense NM_001408463.1:c.746T>C NP_001395392.1:p.Met249Thr missense NM_001408464.1:c.746T>C NP_001395393.1:p.Met249Thr missense NM_001408465.1:c.746T>C NP_001395394.1:p.Met249Thr missense NM_001408466.1:c.746T>C NP_001395395.1:p.Met249Thr missense NM_001408467.1:c.746T>C NP_001395396.1:p.Met249Thr missense NM_001408468.1:c.746T>C NP_001395397.1:p.Met249Thr missense NM_001408469.1:c.746T>C NP_001395398.1:p.Met249Thr missense NM_001408470.1:c.743T>C NP_001395399.1:p.Met248Thr missense NM_001408472.1:c.887T>C NP_001395401.1:p.Met296Thr missense NM_001408473.1:c.887T>C NP_001395402.1:p.Met296Thr missense NM_001408474.1:c.689T>C NP_001395403.1:p.Met230Thr missense NM_001408475.1:c.686T>C NP_001395404.1:p.Met229Thr missense NM_001408476.1:c.689T>C NP_001395405.1:p.Met230Thr missense NM_001408478.1:c.680T>C NP_001395407.1:p.Met227Thr missense NM_001408479.1:c.680T>C NP_001395408.1:p.Met227Thr missense NM_001408480.1:c.680T>C NP_001395409.1:p.Met227Thr missense NM_001408481.1:c.680T>C NP_001395410.1:p.Met227Thr missense NM_001408482.1:c.680T>C NP_001395411.1:p.Met227Thr missense NM_001408483.1:c.680T>C NP_001395412.1:p.Met227Thr missense NM_001408484.1:c.680T>C NP_001395413.1:p.Met227Thr missense NM_001408485.1:c.680T>C NP_001395414.1:p.Met227Thr missense NM_001408489.1:c.677T>C NP_001395418.1:p.Met226Thr missense NM_001408490.1:c.677T>C NP_001395419.1:p.Met226Thr missense NM_001408491.1:c.677T>C NP_001395420.1:p.Met226Thr missense NM_001408492.1:c.677T>C NP_001395421.1:p.Met226Thr missense NM_001408493.1:c.677T>C NP_001395422.1:p.Met226Thr missense NM_001408494.1:c.650T>C NP_001395423.1:p.Met217Thr missense NM_001408495.1:c.647T>C NP_001395424.1:p.Met216Thr missense NM_001408496.1:c.626T>C NP_001395425.1:p.Met209Thr missense NM_001408497.1:c.626T>C NP_001395426.1:p.Met209Thr missense NM_001408498.1:c.626T>C NP_001395427.1:p.Met209Thr missense NM_001408499.1:c.626T>C NP_001395428.1:p.Met209Thr missense NM_001408500.1:c.626T>C NP_001395429.1:p.Met209Thr missense NM_001408501.1:c.626T>C NP_001395430.1:p.Met209Thr missense NM_001408502.1:c.557T>C NP_001395431.1:p.Met186Thr missense NM_001408503.1:c.623T>C NP_001395432.1:p.Met208Thr missense NM_001408504.1:c.623T>C NP_001395433.1:p.Met208Thr missense NM_001408505.1:c.623T>C NP_001395434.1:p.Met208Thr missense NM_001408506.1:c.563T>C NP_001395435.1:p.Met188Thr missense NM_001408507.1:c.560T>C NP_001395436.1:p.Met187Thr missense NM_001408508.1:c.551T>C NP_001395437.1:p.Met184Thr missense NM_001408509.1:c.551T>C NP_001395438.1:p.Met184Thr missense NM_001408510.1:c.509T>C NP_001395439.1:p.Met170Thr missense NM_001408511.1:c.506T>C NP_001395440.1:p.Met169Thr missense NM_001408512.1:c.386T>C NP_001395441.1:p.Met129Thr missense NM_001408513.1:c.677T>C NP_001395442.1:p.Met226Thr missense NM_001408514.1:c.680T>C NP_001395443.1:p.Met227Thr missense NM_007297.4:c.4058T>C NP_009228.2:p.Met1353Thr missense NM_007298.4:c.890T>C NP_009229.2:p.Met297Thr missense NM_007299.4:c.890T>C NP_009230.2:p.Met297Thr missense NM_007300.4:c.4199T>C NP_009231.2:p.Met1400Thr missense NM_007304.2:c.890T>C NP_009235.2:p.Met297Thr missense NR_027676.2:n.4376T>C non-coding transcript variant NC_000017.11:g.43082562A>G NC_000017.10:g.41234579A>G NG_005905.2:g.135422T>C LRG_292:g.135422T>C LRG_292t1:c.4199T>C LRG_292p1:p.Met1400Thr U14680.1:n.4318T>C - Protein change
- M1400T, M1353T, M297T, M1333T, M1374T, M186T, M217T, M226T, M229T, M248T, M252T, M255T, M257T, M1104T, M1272T, M1310T, M1328T, M1330T, M1288T, M1289T, M1312T, M1329T, M1351T, M188T, M216T, M230T, M249T, M270T, M294T, M295T, M1231T, M1273T, M129T, M1332T, M1352T, M1358T, M1359T, M1396T, M1398T, M184T, M209T, M258T, M296T, M532T, M1287T, M1311T, M1357T, M1372T, M1373T, M1399T, M169T, M170T, M187T, M208T, M227T, M250T, M256T, M271T, M531T
- Other names
- -
- Canonical SPDI
- NC_000017.11:43082561: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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- 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 |
13044 | 14850 |
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 (1) |
no assertion criteria provided
|
Dec 23, 2003 | RCV000112294.10 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
|
Apr 23, 2021 | RCV000759535.16 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
|
Aug 8, 2019 | RCV001022025.14 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Aug 3, 2023 | RCV001344408.15 |
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
(Mar 20, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888909.2
First in ClinVar: Mar 14, 2019 Last updated: Jan 01, 2022 |
|
|
Uncertain significance
(Aug 03, 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: SCV001538460.4
First in ClinVar: Mar 22, 2021 Last updated: Feb 20, 2024 |
Comment:
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 … (more)
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. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 28781887, 30765603). 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 expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 55138). This missense change has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 21520333). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1400 of the BRCA1 protein (p.Met1400Thr). (less)
|
|
Uncertain significance
(Mar 09, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV001183713.4
First in ClinVar: Mar 16, 2020 Last updated: May 01, 2024 |
Comment:
The p.M1400T variant (also known as c.4199T>C), located in coding exon 11 of the BRCA1 gene, results from a T to C substitution at nucleotide … (more)
The p.M1400T variant (also known as c.4199T>C), located in coding exon 11 of the BRCA1 gene, results from a T to C substitution at nucleotide position 4199. The methionine at codon 1400 is replaced by threonine, an amino acid with similar properties. 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)
|
|
Uncertain significance
(Apr 23, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV002048919.1
First in ClinVar: Jan 08, 2022 Last updated: Jan 08, 2022 |
Comment:
The BRCA1 c.4199T>C; p.Met1400Thr variant (rs80357473), to our knowledge, is not reported in the medical literature in association with disease but is reported in ClinVar … (more)
The BRCA1 c.4199T>C; p.Met1400Thr variant (rs80357473), to our knowledge, is not reported in the medical literature in association with disease but is reported in ClinVar (Variation ID: 55138). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The methionine at codon 1400 is highly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.276). Functional analyses of the variant protein show no significant effect on protein function (Woods 2016). Due to limited information, the clinical significance of the p.Met1400Thr variant is uncertain at this time. References: Woods NT et al. Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. NPJ Genom Med. 2016;1:16001. PMID: 28781887. (less)
|
|
Uncertain significance
(Aug 08, 2019)
|
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: SCV001354034.2
First in ClinVar: Jun 22, 2020 Last updated: Jan 12, 2022 |
Comment:
This missense variant replaces methionine with threonine at codon 1400 of the BRCA1 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact … (more)
This missense variant replaces methionine with threonine at codon 1400 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 nor has this variant been reported in individuals affected with hereditary cancer in the literature. 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)
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Uncertain significance
(Dec 23, 2003)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145026.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
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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 |
---|---|---|---|---|
Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation. | Fernandes VC | The Journal of biological chemistry | 2019 | PMID: 30765603 |
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. | Woods NT | NPJ genomic medicine | 2016 | PMID: 28781887 |
LOVD v.2.0: the next generation in gene variant databases. | Fokkema IF | Human mutation | 2011 | PMID: 21520333 |
Text-mined citations for rs80357473 ...
HelpRecord last updated Nov 10, 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.