ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2014A>G (p.Lys672Glu)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance(1); Likely benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.2014A>G (p.Lys672Glu)
Variation ID: 186344 Accession: VCV000186344.8
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093517 (GRCh38) [ NCBI UCSC ] 17: 41245534 (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 Mar 24, 2015 May 1, 2024 Mar 23, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.2014A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys672Glu missense NM_001407571.1:c.1801A>G NP_001394500.1:p.Lys601Glu missense NM_001407581.1:c.2014A>G NP_001394510.1:p.Lys672Glu missense NM_001407582.1:c.2014A>G NP_001394511.1:p.Lys672Glu missense NM_001407583.1:c.2014A>G NP_001394512.1:p.Lys672Glu missense NM_001407585.1:c.2014A>G NP_001394514.1:p.Lys672Glu missense NM_001407587.1:c.2011A>G NP_001394516.1:p.Lys671Glu missense NM_001407590.1:c.2011A>G NP_001394519.1:p.Lys671Glu missense NM_001407591.1:c.2011A>G NP_001394520.1:p.Lys671Glu missense NM_001407593.1:c.2014A>G NP_001394522.1:p.Lys672Glu missense NM_001407594.1:c.2014A>G NP_001394523.1:p.Lys672Glu missense NM_001407596.1:c.2014A>G NP_001394525.1:p.Lys672Glu missense NM_001407597.1:c.2014A>G NP_001394526.1:p.Lys672Glu missense NM_001407598.1:c.2014A>G NP_001394527.1:p.Lys672Glu missense NM_001407602.1:c.2014A>G NP_001394531.1:p.Lys672Glu missense NM_001407603.1:c.2014A>G NP_001394532.1:p.Lys672Glu missense NM_001407605.1:c.2014A>G NP_001394534.1:p.Lys672Glu missense NM_001407610.1:c.2011A>G NP_001394539.1:p.Lys671Glu missense NM_001407611.1:c.2011A>G NP_001394540.1:p.Lys671Glu missense NM_001407612.1:c.2011A>G NP_001394541.1:p.Lys671Glu missense NM_001407613.1:c.2011A>G NP_001394542.1:p.Lys671Glu missense NM_001407614.1:c.2011A>G NP_001394543.1:p.Lys671Glu missense NM_001407615.1:c.2011A>G NP_001394544.1:p.Lys671Glu missense NM_001407616.1:c.2014A>G NP_001394545.1:p.Lys672Glu missense NM_001407617.1:c.2014A>G NP_001394546.1:p.Lys672Glu missense NM_001407618.1:c.2014A>G NP_001394547.1:p.Lys672Glu missense NM_001407619.1:c.2014A>G NP_001394548.1:p.Lys672Glu missense NM_001407620.1:c.2014A>G NP_001394549.1:p.Lys672Glu missense NM_001407621.1:c.2014A>G NP_001394550.1:p.Lys672Glu missense NM_001407622.1:c.2014A>G NP_001394551.1:p.Lys672Glu missense NM_001407623.1:c.2014A>G NP_001394552.1:p.Lys672Glu missense NM_001407624.1:c.2014A>G NP_001394553.1:p.Lys672Glu missense NM_001407625.1:c.2014A>G NP_001394554.1:p.Lys672Glu missense NM_001407626.1:c.2014A>G NP_001394555.1:p.Lys672Glu missense NM_001407627.1:c.2011A>G NP_001394556.1:p.Lys671Glu missense NM_001407628.1:c.2011A>G NP_001394557.1:p.Lys671Glu missense NM_001407629.1:c.2011A>G NP_001394558.1:p.Lys671Glu missense NM_001407630.1:c.2011A>G NP_001394559.1:p.Lys671Glu missense NM_001407631.1:c.2011A>G NP_001394560.1:p.Lys671Glu missense NM_001407632.1:c.2011A>G NP_001394561.1:p.Lys671Glu missense NM_001407633.1:c.2011A>G NP_001394562.1:p.Lys671Glu missense NM_001407634.1:c.2011A>G NP_001394563.1:p.Lys671Glu missense NM_001407635.1:c.2011A>G NP_001394564.1:p.Lys671Glu missense NM_001407636.1:c.2011A>G NP_001394565.1:p.Lys671Glu missense NM_001407637.1:c.2011A>G NP_001394566.1:p.Lys671Glu missense NM_001407638.1:c.2011A>G NP_001394567.1:p.Lys671Glu missense NM_001407639.1:c.2014A>G NP_001394568.1:p.Lys672Glu missense NM_001407640.1:c.2014A>G NP_001394569.1:p.Lys672Glu missense NM_001407641.1:c.2014A>G NP_001394570.1:p.Lys672Glu missense NM_001407642.1:c.2014A>G NP_001394571.1:p.Lys672Glu missense NM_001407644.1:c.2011A>G NP_001394573.1:p.Lys671Glu missense NM_001407645.1:c.2011A>G NP_001394574.1:p.Lys671Glu missense NM_001407646.1:c.2005A>G NP_001394575.1:p.Lys669Glu missense NM_001407647.1:c.2005A>G NP_001394576.1:p.Lys669Glu missense NM_001407648.1:c.1891A>G NP_001394577.1:p.Lys631Glu missense NM_001407649.1:c.1888A>G NP_001394578.1:p.Lys630Glu missense NM_001407652.1:c.2014A>G NP_001394581.1:p.Lys672Glu missense NM_001407653.1:c.1936A>G NP_001394582.1:p.Lys646Glu missense NM_001407654.1:c.1936A>G NP_001394583.1:p.Lys646Glu missense NM_001407655.1:c.1936A>G NP_001394584.1:p.Lys646Glu missense NM_001407656.1:c.1936A>G NP_001394585.1:p.Lys646Glu missense NM_001407657.1:c.1936A>G NP_001394586.1:p.Lys646Glu missense NM_001407658.1:c.1936A>G NP_001394587.1:p.Lys646Glu missense NM_001407659.1:c.1933A>G NP_001394588.1:p.Lys645Glu missense NM_001407660.1:c.1933A>G NP_001394589.1:p.Lys645Glu missense NM_001407661.1:c.1933A>G NP_001394590.1:p.Lys645Glu missense NM_001407662.1:c.1933A>G NP_001394591.1:p.Lys645Glu missense NM_001407663.1:c.1936A>G NP_001394592.1:p.Lys646Glu missense NM_001407664.1:c.1891A>G NP_001394593.1:p.Lys631Glu missense NM_001407665.1:c.1891A>G NP_001394594.1:p.Lys631Glu missense NM_001407666.1:c.1891A>G NP_001394595.1:p.Lys631Glu missense NM_001407667.1:c.1891A>G NP_001394596.1:p.Lys631Glu missense NM_001407668.1:c.1891A>G NP_001394597.1:p.Lys631Glu missense NM_001407669.1:c.1891A>G NP_001394598.1:p.Lys631Glu missense NM_001407670.1:c.1888A>G NP_001394599.1:p.Lys630Glu missense NM_001407671.1:c.1888A>G NP_001394600.1:p.Lys630Glu missense NM_001407672.1:c.1888A>G NP_001394601.1:p.Lys630Glu missense NM_001407673.1:c.1888A>G NP_001394602.1:p.Lys630Glu missense NM_001407674.1:c.1891A>G NP_001394603.1:p.Lys631Glu missense NM_001407675.1:c.1891A>G NP_001394604.1:p.Lys631Glu missense NM_001407676.1:c.1891A>G NP_001394605.1:p.Lys631Glu missense NM_001407677.1:c.1891A>G NP_001394606.1:p.Lys631Glu missense NM_001407678.1:c.1891A>G NP_001394607.1:p.Lys631Glu missense NM_001407679.1:c.1891A>G NP_001394608.1:p.Lys631Glu missense NM_001407680.1:c.1891A>G NP_001394609.1:p.Lys631Glu missense NM_001407681.1:c.1891A>G NP_001394610.1:p.Lys631Glu missense NM_001407682.1:c.1891A>G NP_001394611.1:p.Lys631Glu missense NM_001407683.1:c.1891A>G NP_001394612.1:p.Lys631Glu missense NM_001407684.1:c.2014A>G NP_001394613.1:p.Lys672Glu missense NM_001407685.1:c.1888A>G NP_001394614.1:p.Lys630Glu missense NM_001407686.1:c.1888A>G NP_001394615.1:p.Lys630Glu missense NM_001407687.1:c.1888A>G NP_001394616.1:p.Lys630Glu missense NM_001407688.1:c.1888A>G NP_001394617.1:p.Lys630Glu missense NM_001407689.1:c.1888A>G NP_001394618.1:p.Lys630Glu missense NM_001407690.1:c.1888A>G NP_001394619.1:p.Lys630Glu missense NM_001407691.1:c.1888A>G NP_001394620.1:p.Lys630Glu missense NM_001407692.1:c.1873A>G NP_001394621.1:p.Lys625Glu missense NM_001407694.1:c.1873A>G NP_001394623.1:p.Lys625Glu missense NM_001407695.1:c.1873A>G NP_001394624.1:p.Lys625Glu missense NM_001407696.1:c.1873A>G NP_001394625.1:p.Lys625Glu missense NM_001407697.1:c.1873A>G NP_001394626.1:p.Lys625Glu missense NM_001407698.1:c.1873A>G NP_001394627.1:p.Lys625Glu missense NM_001407724.1:c.1873A>G NP_001394653.1:p.Lys625Glu missense NM_001407725.1:c.1873A>G NP_001394654.1:p.Lys625Glu missense NM_001407726.1:c.1873A>G NP_001394655.1:p.Lys625Glu missense NM_001407727.1:c.1873A>G NP_001394656.1:p.Lys625Glu missense NM_001407728.1:c.1873A>G NP_001394657.1:p.Lys625Glu missense NM_001407729.1:c.1873A>G NP_001394658.1:p.Lys625Glu missense NM_001407730.1:c.1873A>G NP_001394659.1:p.Lys625Glu missense NM_001407731.1:c.1873A>G NP_001394660.1:p.Lys625Glu missense NM_001407732.1:c.1873A>G NP_001394661.1:p.Lys625Glu missense NM_001407733.1:c.1873A>G NP_001394662.1:p.Lys625Glu missense NM_001407734.1:c.1873A>G NP_001394663.1:p.Lys625Glu missense NM_001407735.1:c.1873A>G NP_001394664.1:p.Lys625Glu missense NM_001407736.1:c.1873A>G NP_001394665.1:p.Lys625Glu missense NM_001407737.1:c.1873A>G NP_001394666.1:p.Lys625Glu missense NM_001407738.1:c.1873A>G NP_001394667.1:p.Lys625Glu missense NM_001407739.1:c.1873A>G NP_001394668.1:p.Lys625Glu missense NM_001407740.1:c.1870A>G NP_001394669.1:p.Lys624Glu missense NM_001407741.1:c.1870A>G NP_001394670.1:p.Lys624Glu missense NM_001407742.1:c.1870A>G NP_001394671.1:p.Lys624Glu missense NM_001407743.1:c.1870A>G NP_001394672.1:p.Lys624Glu missense NM_001407744.1:c.1870A>G NP_001394673.1:p.Lys624Glu missense NM_001407745.1:c.1870A>G NP_001394674.1:p.Lys624Glu missense NM_001407746.1:c.1870A>G NP_001394675.1:p.Lys624Glu missense NM_001407747.1:c.1870A>G NP_001394676.1:p.Lys624Glu missense NM_001407748.1:c.1870A>G NP_001394677.1:p.Lys624Glu missense NM_001407749.1:c.1870A>G NP_001394678.1:p.Lys624Glu missense NM_001407750.1:c.1873A>G NP_001394679.1:p.Lys625Glu missense NM_001407751.1:c.1873A>G NP_001394680.1:p.Lys625Glu missense NM_001407752.1:c.1873A>G NP_001394681.1:p.Lys625Glu missense NM_001407838.1:c.1870A>G NP_001394767.1:p.Lys624Glu missense NM_001407839.1:c.1870A>G NP_001394768.1:p.Lys624Glu missense NM_001407841.1:c.1870A>G NP_001394770.1:p.Lys624Glu missense NM_001407842.1:c.1870A>G NP_001394771.1:p.Lys624Glu missense NM_001407843.1:c.1870A>G NP_001394772.1:p.Lys624Glu missense NM_001407844.1:c.1870A>G NP_001394773.1:p.Lys624Glu missense NM_001407845.1:c.1870A>G NP_001394774.1:p.Lys624Glu missense NM_001407846.1:c.1870A>G NP_001394775.1:p.Lys624Glu missense NM_001407847.1:c.1870A>G NP_001394776.1:p.Lys624Glu missense NM_001407848.1:c.1870A>G NP_001394777.1:p.Lys624Glu missense NM_001407849.1:c.1870A>G NP_001394778.1:p.Lys624Glu missense NM_001407850.1:c.1873A>G NP_001394779.1:p.Lys625Glu missense NM_001407851.1:c.1873A>G NP_001394780.1:p.Lys625Glu missense NM_001407852.1:c.1873A>G NP_001394781.1:p.Lys625Glu missense NM_001407853.1:c.1801A>G NP_001394782.1:p.Lys601Glu missense NM_001407854.1:c.2014A>G NP_001394783.1:p.Lys672Glu missense NM_001407858.1:c.2014A>G NP_001394787.1:p.Lys672Glu missense NM_001407859.1:c.2014A>G NP_001394788.1:p.Lys672Glu missense NM_001407860.1:c.2011A>G NP_001394789.1:p.Lys671Glu missense NM_001407861.1:c.2011A>G NP_001394790.1:p.Lys671Glu missense NM_001407862.1:c.1813A>G NP_001394791.1:p.Lys605Glu missense NM_001407863.1:c.1891A>G NP_001394792.1:p.Lys631Glu missense NM_001407874.1:c.1810A>G NP_001394803.1:p.Lys604Glu missense NM_001407875.1:c.1810A>G NP_001394804.1:p.Lys604Glu missense NM_001407879.1:c.1804A>G NP_001394808.1:p.Lys602Glu missense NM_001407881.1:c.1804A>G NP_001394810.1:p.Lys602Glu missense NM_001407882.1:c.1804A>G NP_001394811.1:p.Lys602Glu missense NM_001407884.1:c.1804A>G NP_001394813.1:p.Lys602Glu missense NM_001407885.1:c.1804A>G NP_001394814.1:p.Lys602Glu missense NM_001407886.1:c.1804A>G NP_001394815.1:p.Lys602Glu missense NM_001407887.1:c.1804A>G NP_001394816.1:p.Lys602Glu missense NM_001407889.1:c.1804A>G NP_001394818.1:p.Lys602Glu missense NM_001407894.1:c.1801A>G NP_001394823.1:p.Lys601Glu missense NM_001407895.1:c.1801A>G NP_001394824.1:p.Lys601Glu missense NM_001407896.1:c.1801A>G NP_001394825.1:p.Lys601Glu missense NM_001407897.1:c.1801A>G NP_001394826.1:p.Lys601Glu missense NM_001407898.1:c.1801A>G NP_001394827.1:p.Lys601Glu missense NM_001407899.1:c.1801A>G NP_001394828.1:p.Lys601Glu missense NM_001407900.1:c.1804A>G NP_001394829.1:p.Lys602Glu missense NM_001407902.1:c.1804A>G NP_001394831.1:p.Lys602Glu missense NM_001407904.1:c.1804A>G NP_001394833.1:p.Lys602Glu missense NM_001407906.1:c.1804A>G NP_001394835.1:p.Lys602Glu missense NM_001407907.1:c.1804A>G NP_001394836.1:p.Lys602Glu missense NM_001407908.1:c.1804A>G NP_001394837.1:p.Lys602Glu missense NM_001407909.1:c.1804A>G NP_001394838.1:p.Lys602Glu missense NM_001407910.1:c.1804A>G NP_001394839.1:p.Lys602Glu missense NM_001407915.1:c.1801A>G NP_001394844.1:p.Lys601Glu missense NM_001407916.1:c.1801A>G NP_001394845.1:p.Lys601Glu missense NM_001407917.1:c.1801A>G NP_001394846.1:p.Lys601Glu missense NM_001407918.1:c.1801A>G NP_001394847.1:p.Lys601Glu missense NM_001407919.1:c.1891A>G NP_001394848.1:p.Lys631Glu missense NM_001407920.1:c.1750A>G NP_001394849.1:p.Lys584Glu missense NM_001407921.1:c.1750A>G NP_001394850.1:p.Lys584Glu missense NM_001407922.1:c.1750A>G NP_001394851.1:p.Lys584Glu missense NM_001407923.1:c.1750A>G NP_001394852.1:p.Lys584Glu missense NM_001407924.1:c.1750A>G NP_001394853.1:p.Lys584Glu missense NM_001407925.1:c.1750A>G NP_001394854.1:p.Lys584Glu missense NM_001407926.1:c.1750A>G NP_001394855.1:p.Lys584Glu missense NM_001407927.1:c.1750A>G NP_001394856.1:p.Lys584Glu missense NM_001407928.1:c.1750A>G NP_001394857.1:p.Lys584Glu missense NM_001407929.1:c.1750A>G NP_001394858.1:p.Lys584Glu missense NM_001407930.1:c.1747A>G NP_001394859.1:p.Lys583Glu missense NM_001407931.1:c.1747A>G NP_001394860.1:p.Lys583Glu missense NM_001407932.1:c.1747A>G NP_001394861.1:p.Lys583Glu missense NM_001407933.1:c.1750A>G NP_001394862.1:p.Lys584Glu missense NM_001407934.1:c.1747A>G NP_001394863.1:p.Lys583Glu missense NM_001407935.1:c.1750A>G NP_001394864.1:p.Lys584Glu missense NM_001407936.1:c.1747A>G NP_001394865.1:p.Lys583Glu missense NM_001407937.1:c.1891A>G NP_001394866.1:p.Lys631Glu missense NM_001407938.1:c.1891A>G NP_001394867.1:p.Lys631Glu missense NM_001407939.1:c.1891A>G NP_001394868.1:p.Lys631Glu missense NM_001407940.1:c.1888A>G NP_001394869.1:p.Lys630Glu missense NM_001407941.1:c.1888A>G NP_001394870.1:p.Lys630Glu missense NM_001407942.1:c.1873A>G NP_001394871.1:p.Lys625Glu missense NM_001407943.1:c.1870A>G NP_001394872.1:p.Lys624Glu missense NM_001407944.1:c.1873A>G NP_001394873.1:p.Lys625Glu missense NM_001407945.1:c.1873A>G NP_001394874.1:p.Lys625Glu missense NM_001407946.1:c.1681A>G NP_001394875.1:p.Lys561Glu missense NM_001407947.1:c.1681A>G NP_001394876.1:p.Lys561Glu missense NM_001407948.1:c.1681A>G NP_001394877.1:p.Lys561Glu missense NM_001407949.1:c.1681A>G NP_001394878.1:p.Lys561Glu missense NM_001407950.1:c.1681A>G NP_001394879.1:p.Lys561Glu missense NM_001407951.1:c.1681A>G NP_001394880.1:p.Lys561Glu missense NM_001407952.1:c.1681A>G NP_001394881.1:p.Lys561Glu missense NM_001407953.1:c.1681A>G NP_001394882.1:p.Lys561Glu missense NM_001407954.1:c.1678A>G NP_001394883.1:p.Lys560Glu missense NM_001407955.1:c.1678A>G NP_001394884.1:p.Lys560Glu missense NM_001407956.1:c.1678A>G NP_001394885.1:p.Lys560Glu missense NM_001407957.1:c.1681A>G NP_001394886.1:p.Lys561Glu missense NM_001407958.1:c.1678A>G NP_001394887.1:p.Lys560Glu missense NM_001407959.1:c.1633A>G NP_001394888.1:p.Lys545Glu missense NM_001407960.1:c.1633A>G NP_001394889.1:p.Lys545Glu missense NM_001407962.1:c.1630A>G NP_001394891.1:p.Lys544Glu missense NM_001407963.1:c.1633A>G NP_001394892.1:p.Lys545Glu missense NM_001407964.1:c.1870A>G NP_001394893.1:p.Lys624Glu missense NM_001407965.1:c.1510A>G NP_001394894.1:p.Lys504Glu missense NM_001407966.1:c.1126A>G NP_001394895.1:p.Lys376Glu missense NM_001407967.1:c.1126A>G NP_001394896.1:p.Lys376Glu missense NM_001407968.1:c.787+1227A>G intron variant NM_001407969.1:c.787+1227A>G intron variant NM_001407970.1:c.787+1227A>G intron variant NM_001407971.1:c.787+1227A>G intron variant NM_001407972.1:c.784+1227A>G intron variant NM_001407973.1:c.787+1227A>G intron variant NM_001407974.1:c.787+1227A>G intron variant NM_001407975.1:c.787+1227A>G intron variant NM_001407976.1:c.787+1227A>G intron variant NM_001407977.1:c.787+1227A>G intron variant NM_001407978.1:c.787+1227A>G intron variant NM_001407979.1:c.787+1227A>G intron variant NM_001407980.1:c.787+1227A>G intron variant NM_001407981.1:c.787+1227A>G intron variant NM_001407982.1:c.787+1227A>G intron variant NM_001407983.1:c.787+1227A>G intron variant NM_001407984.1:c.784+1227A>G intron variant NM_001407985.1:c.784+1227A>G intron variant NM_001407986.1:c.784+1227A>G intron variant NM_001407990.1:c.787+1227A>G intron variant NM_001407991.1:c.784+1227A>G intron variant NM_001407992.1:c.784+1227A>G intron variant NM_001407993.1:c.787+1227A>G intron variant NM_001408392.1:c.784+1227A>G intron variant NM_001408396.1:c.784+1227A>G intron variant NM_001408397.1:c.784+1227A>G intron variant NM_001408398.1:c.784+1227A>G intron variant NM_001408399.1:c.784+1227A>G intron variant NM_001408400.1:c.784+1227A>G intron variant NM_001408401.1:c.784+1227A>G intron variant NM_001408402.1:c.784+1227A>G intron variant NM_001408403.1:c.787+1227A>G intron variant NM_001408404.1:c.787+1227A>G intron variant NM_001408406.1:c.790+1224A>G intron variant NM_001408407.1:c.784+1227A>G intron variant NM_001408408.1:c.778+1227A>G intron variant NM_001408409.1:c.709+1227A>G intron variant NM_001408410.1:c.646+1227A>G intron variant NM_001408411.1:c.709+1227A>G intron variant NM_001408412.1:c.709+1227A>G intron variant NM_001408413.1:c.706+1227A>G intron variant NM_001408414.1:c.709+1227A>G intron variant NM_001408415.1:c.709+1227A>G intron variant NM_001408416.1:c.706+1227A>G intron variant NM_001408418.1:c.670+2329A>G intron variant NM_001408419.1:c.670+2329A>G intron variant NM_001408420.1:c.670+2329A>G intron variant NM_001408421.1:c.667+2329A>G intron variant NM_001408422.1:c.670+2329A>G intron variant NM_001408423.1:c.670+2329A>G intron variant NM_001408424.1:c.667+2329A>G intron variant NM_001408425.1:c.664+1227A>G intron variant NM_001408426.1:c.664+1227A>G intron variant NM_001408427.1:c.664+1227A>G intron variant NM_001408428.1:c.664+1227A>G intron variant NM_001408429.1:c.664+1227A>G intron variant NM_001408430.1:c.664+1227A>G intron variant NM_001408431.1:c.667+2329A>G intron variant NM_001408432.1:c.661+1227A>G intron variant NM_001408433.1:c.661+1227A>G intron variant NM_001408434.1:c.661+1227A>G intron variant NM_001408435.1:c.661+1227A>G intron variant NM_001408436.1:c.664+1227A>G intron variant NM_001408437.1:c.664+1227A>G intron variant NM_001408438.1:c.664+1227A>G intron variant NM_001408439.1:c.664+1227A>G intron variant NM_001408440.1:c.664+1227A>G intron variant NM_001408441.1:c.664+1227A>G intron variant NM_001408442.1:c.664+1227A>G intron variant NM_001408443.1:c.664+1227A>G intron variant NM_001408444.1:c.664+1227A>G intron variant NM_001408445.1:c.661+1227A>G intron variant NM_001408446.1:c.661+1227A>G intron variant NM_001408447.1:c.661+1227A>G intron variant NM_001408448.1:c.661+1227A>G intron variant NM_001408450.1:c.661+1227A>G intron variant NM_001408451.1:c.652+1227A>G intron variant NM_001408452.1:c.646+1227A>G intron variant NM_001408453.1:c.646+1227A>G intron variant NM_001408454.1:c.646+1227A>G intron variant NM_001408455.1:c.646+1227A>G intron variant NM_001408456.1:c.646+1227A>G intron variant NM_001408457.1:c.646+1227A>G intron variant NM_001408458.1:c.646+1227A>G intron variant NM_001408459.1:c.646+1227A>G intron variant NM_001408460.1:c.646+1227A>G intron variant NM_001408461.1:c.646+1227A>G intron variant NM_001408462.1:c.643+1227A>G intron variant NM_001408463.1:c.643+1227A>G intron variant NM_001408464.1:c.643+1227A>G intron variant NM_001408465.1:c.643+1227A>G intron variant NM_001408466.1:c.646+1227A>G intron variant NM_001408467.1:c.646+1227A>G intron variant NM_001408468.1:c.643+1227A>G intron variant NM_001408469.1:c.646+1227A>G intron variant NM_001408470.1:c.643+1227A>G intron variant NM_001408472.1:c.787+1227A>G intron variant NM_001408473.1:c.784+1227A>G intron variant NM_001408474.1:c.586+1227A>G intron variant NM_001408475.1:c.583+1227A>G intron variant NM_001408476.1:c.586+1227A>G intron variant NM_001408478.1:c.577+1227A>G intron variant NM_001408479.1:c.577+1227A>G intron variant NM_001408480.1:c.577+1227A>G intron variant NM_001408481.1:c.577+1227A>G intron variant NM_001408482.1:c.577+1227A>G intron variant NM_001408483.1:c.577+1227A>G intron variant NM_001408484.1:c.577+1227A>G intron variant NM_001408485.1:c.577+1227A>G intron variant NM_001408489.1:c.577+1227A>G intron variant NM_001408490.1:c.574+1227A>G intron variant NM_001408491.1:c.574+1227A>G intron variant NM_001408492.1:c.577+1227A>G intron variant NM_001408493.1:c.574+1227A>G intron variant NM_001408494.1:c.548-2485A>G intron variant NM_001408495.1:c.545-2485A>G intron variant NM_001408496.1:c.523+1227A>G intron variant NM_001408497.1:c.523+1227A>G intron variant NM_001408498.1:c.523+1227A>G intron variant NM_001408499.1:c.523+1227A>G intron variant NM_001408500.1:c.523+1227A>G intron variant NM_001408501.1:c.523+1227A>G intron variant NM_001408502.1:c.454+1227A>G intron variant NM_001408503.1:c.520+1227A>G intron variant NM_001408504.1:c.520+1227A>G intron variant NM_001408505.1:c.520+1227A>G intron variant NM_001408506.1:c.460+2329A>G intron variant NM_001408507.1:c.460+2329A>G intron variant NM_001408508.1:c.451+1227A>G intron variant NM_001408509.1:c.451+1227A>G intron variant NM_001408510.1:c.406+1227A>G intron variant NM_001408511.1:c.404-2485A>G intron variant NM_001408512.1:c.283+1227A>G intron variant NM_001408513.1:c.577+1227A>G intron variant NM_001408514.1:c.577+1227A>G intron variant NM_007297.4:c.1873A>G NP_009228.2:p.Lys625Glu missense NM_007298.4:c.787+1227A>G intron variant NM_007299.4:c.787+1227A>G intron variant NM_007300.4:c.2014A>G NP_009231.2:p.Lys672Glu missense NR_027676.1:n.2150A>G NC_000017.11:g.43093517T>C NC_000017.10:g.41245534T>C NG_005905.2:g.124467A>G LRG_292:g.124467A>G LRG_292t1:c.2014A>G LRG_292p1:p.Lys672Glu - Protein change
- K672E, K625E, K504E, K583E, K604E, K630E, K669E, K544E, K376E, K561E, K584E, K601E, K631E, K645E, K646E, K671E, K545E, K560E, K602E, K605E, K624E
- Other names
- -
- Canonical SPDI
- NC_000017.11:43093516:T:C
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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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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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Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
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Mar 23, 2023 | RCV000165923.14 |
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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Likely benign
(Mar 23, 2023)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV003849566.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023
Comment:
BRCA1 coldspot (exon 11 using historical exon numbering). Reclassification based on statistical prior probability
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Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
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Uncertain significance
(Sep 15, 2014)
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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: SCV000216678.7
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
The p.K672E variant (also known as c.2014A>G and 2133A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution … (more)
The p.K672E variant (also known as c.2014A>G and 2133A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 2014. The lysine at codon 672 is replaced by glutamic acid, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6502 samples (13004 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.008% (greater than 64000 alleles tested) in our clinical cohort. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be benign and tolerated by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.K672E 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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Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots". | Dines JN | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 31911673 |
Text-mined citations for rs397508929 ...
HelpRecord last updated Oct 13, 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.