ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5011A>G (p.Lys1671Glu)
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.5011A>G (p.Lys1671Glu)
Variation ID: 867535 Accession: VCV000867535.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43067671 (GRCh38) [ NCBI UCSC ] 17: 41219688 (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 18, 2020 Apr 18, 2020 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5011A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys1671Glu missense NM_001407571.1:c.4798A>G NP_001394500.1:p.Lys1600Glu missense NM_001407581.1:c.5077A>G NP_001394510.1:p.Lys1693Glu missense NM_001407582.1:c.5077A>G NP_001394511.1:p.Lys1693Glu missense NM_001407583.1:c.5074A>G NP_001394512.1:p.Lys1692Glu missense NM_001407585.1:c.5074A>G NP_001394514.1:p.Lys1692Glu missense NM_001407587.1:c.5074A>G NP_001394516.1:p.Lys1692Glu missense NM_001407590.1:c.5071A>G NP_001394519.1:p.Lys1691Glu missense NM_001407591.1:c.5071A>G NP_001394520.1:p.Lys1691Glu missense NM_001407593.1:c.5011A>G NP_001394522.1:p.Lys1671Glu missense NM_001407594.1:c.5011A>G NP_001394523.1:p.Lys1671Glu missense NM_001407596.1:c.5011A>G NP_001394525.1:p.Lys1671Glu missense NM_001407597.1:c.5011A>G NP_001394526.1:p.Lys1671Glu missense NM_001407598.1:c.5011A>G NP_001394527.1:p.Lys1671Glu missense NM_001407602.1:c.5011A>G NP_001394531.1:p.Lys1671Glu missense NM_001407603.1:c.5011A>G NP_001394532.1:p.Lys1671Glu missense NM_001407605.1:c.5011A>G NP_001394534.1:p.Lys1671Glu missense NM_001407610.1:c.5008A>G NP_001394539.1:p.Lys1670Glu missense NM_001407611.1:c.5008A>G NP_001394540.1:p.Lys1670Glu missense NM_001407612.1:c.5008A>G NP_001394541.1:p.Lys1670Glu missense NM_001407613.1:c.5008A>G NP_001394542.1:p.Lys1670Glu missense NM_001407614.1:c.5008A>G NP_001394543.1:p.Lys1670Glu missense NM_001407615.1:c.5008A>G NP_001394544.1:p.Lys1670Glu missense NM_001407616.1:c.5008A>G NP_001394545.1:p.Lys1670Glu missense NM_001407617.1:c.5008A>G NP_001394546.1:p.Lys1670Glu missense NM_001407618.1:c.5008A>G NP_001394547.1:p.Lys1670Glu missense NM_001407619.1:c.5008A>G NP_001394548.1:p.Lys1670Glu missense NM_001407620.1:c.5008A>G NP_001394549.1:p.Lys1670Glu missense NM_001407621.1:c.5008A>G NP_001394550.1:p.Lys1670Glu missense NM_001407622.1:c.5008A>G NP_001394551.1:p.Lys1670Glu missense NM_001407623.1:c.5008A>G NP_001394552.1:p.Lys1670Glu missense NM_001407624.1:c.5008A>G NP_001394553.1:p.Lys1670Glu missense NM_001407625.1:c.5008A>G NP_001394554.1:p.Lys1670Glu missense NM_001407626.1:c.5008A>G NP_001394555.1:p.Lys1670Glu missense NM_001407627.1:c.5005A>G NP_001394556.1:p.Lys1669Glu missense NM_001407628.1:c.5005A>G NP_001394557.1:p.Lys1669Glu missense NM_001407629.1:c.5005A>G NP_001394558.1:p.Lys1669Glu missense NM_001407630.1:c.5005A>G NP_001394559.1:p.Lys1669Glu missense NM_001407631.1:c.5005A>G NP_001394560.1:p.Lys1669Glu missense NM_001407632.1:c.5005A>G NP_001394561.1:p.Lys1669Glu missense NM_001407633.1:c.5005A>G NP_001394562.1:p.Lys1669Glu missense NM_001407634.1:c.5005A>G NP_001394563.1:p.Lys1669Glu missense NM_001407635.1:c.5005A>G NP_001394564.1:p.Lys1669Glu missense NM_001407636.1:c.5005A>G NP_001394565.1:p.Lys1669Glu missense NM_001407637.1:c.5005A>G NP_001394566.1:p.Lys1669Glu missense NM_001407638.1:c.5005A>G NP_001394567.1:p.Lys1669Glu missense NM_001407639.1:c.5005A>G NP_001394568.1:p.Lys1669Glu missense NM_001407640.1:c.5005A>G NP_001394569.1:p.Lys1669Glu missense NM_001407641.1:c.5005A>G NP_001394570.1:p.Lys1669Glu missense NM_001407642.1:c.5005A>G NP_001394571.1:p.Lys1669Glu missense NM_001407644.1:c.5002A>G NP_001394573.1:p.Lys1668Glu missense NM_001407645.1:c.5002A>G NP_001394574.1:p.Lys1668Glu missense NM_001407646.1:c.4999A>G NP_001394575.1:p.Lys1667Glu missense NM_001407647.1:c.4996A>G NP_001394576.1:p.Lys1666Glu missense NM_001407648.1:c.4954A>G NP_001394577.1:p.Lys1652Glu missense NM_001407649.1:c.4951A>G NP_001394578.1:p.Lys1651Glu missense NM_001407652.1:c.5011A>G NP_001394581.1:p.Lys1671Glu missense NM_001407653.1:c.4933A>G NP_001394582.1:p.Lys1645Glu missense NM_001407654.1:c.4933A>G NP_001394583.1:p.Lys1645Glu missense NM_001407655.1:c.4933A>G NP_001394584.1:p.Lys1645Glu missense NM_001407656.1:c.4930A>G NP_001394585.1:p.Lys1644Glu missense NM_001407657.1:c.4930A>G NP_001394586.1:p.Lys1644Glu missense NM_001407658.1:c.4930A>G NP_001394587.1:p.Lys1644Glu missense NM_001407659.1:c.4927A>G NP_001394588.1:p.Lys1643Glu missense NM_001407660.1:c.4927A>G NP_001394589.1:p.Lys1643Glu missense NM_001407661.1:c.4927A>G NP_001394590.1:p.Lys1643Glu missense NM_001407662.1:c.4927A>G NP_001394591.1:p.Lys1643Glu missense NM_001407663.1:c.4927A>G NP_001394592.1:p.Lys1643Glu missense NM_001407664.1:c.4888A>G NP_001394593.1:p.Lys1630Glu missense NM_001407665.1:c.4888A>G NP_001394594.1:p.Lys1630Glu missense NM_001407666.1:c.4888A>G NP_001394595.1:p.Lys1630Glu missense NM_001407667.1:c.4888A>G NP_001394596.1:p.Lys1630Glu missense NM_001407668.1:c.4888A>G NP_001394597.1:p.Lys1630Glu missense NM_001407669.1:c.4888A>G NP_001394598.1:p.Lys1630Glu missense NM_001407670.1:c.4885A>G NP_001394599.1:p.Lys1629Glu missense NM_001407671.1:c.4885A>G NP_001394600.1:p.Lys1629Glu missense NM_001407672.1:c.4885A>G NP_001394601.1:p.Lys1629Glu missense NM_001407673.1:c.4885A>G NP_001394602.1:p.Lys1629Glu missense NM_001407674.1:c.4885A>G NP_001394603.1:p.Lys1629Glu missense NM_001407675.1:c.4885A>G NP_001394604.1:p.Lys1629Glu missense NM_001407676.1:c.4885A>G NP_001394605.1:p.Lys1629Glu missense NM_001407677.1:c.4885A>G NP_001394606.1:p.Lys1629Glu missense NM_001407678.1:c.4885A>G NP_001394607.1:p.Lys1629Glu missense NM_001407679.1:c.4885A>G NP_001394608.1:p.Lys1629Glu missense NM_001407680.1:c.4885A>G NP_001394609.1:p.Lys1629Glu missense NM_001407681.1:c.4882A>G NP_001394610.1:p.Lys1628Glu missense NM_001407682.1:c.4882A>G NP_001394611.1:p.Lys1628Glu missense NM_001407683.1:c.4882A>G NP_001394612.1:p.Lys1628Glu missense NM_001407684.1:c.5011A>G NP_001394613.1:p.Lys1671Glu missense NM_001407685.1:c.4882A>G NP_001394614.1:p.Lys1628Glu missense NM_001407686.1:c.4882A>G NP_001394615.1:p.Lys1628Glu missense NM_001407687.1:c.4882A>G NP_001394616.1:p.Lys1628Glu missense NM_001407688.1:c.4882A>G NP_001394617.1:p.Lys1628Glu missense NM_001407689.1:c.4882A>G NP_001394618.1:p.Lys1628Glu missense NM_001407690.1:c.4879A>G NP_001394619.1:p.Lys1627Glu missense NM_001407691.1:c.4879A>G NP_001394620.1:p.Lys1627Glu missense NM_001407692.1:c.4870A>G NP_001394621.1:p.Lys1624Glu missense NM_001407694.1:c.4870A>G NP_001394623.1:p.Lys1624Glu missense NM_001407695.1:c.4870A>G NP_001394624.1:p.Lys1624Glu missense NM_001407696.1:c.4870A>G NP_001394625.1:p.Lys1624Glu missense NM_001407697.1:c.4870A>G NP_001394626.1:p.Lys1624Glu missense NM_001407698.1:c.4870A>G NP_001394627.1:p.Lys1624Glu missense NM_001407724.1:c.4870A>G NP_001394653.1:p.Lys1624Glu missense NM_001407725.1:c.4870A>G NP_001394654.1:p.Lys1624Glu missense NM_001407726.1:c.4870A>G NP_001394655.1:p.Lys1624Glu missense NM_001407727.1:c.4870A>G NP_001394656.1:p.Lys1624Glu missense NM_001407728.1:c.4870A>G NP_001394657.1:p.Lys1624Glu missense NM_001407729.1:c.4870A>G NP_001394658.1:p.Lys1624Glu missense NM_001407730.1:c.4870A>G NP_001394659.1:p.Lys1624Glu missense NM_001407731.1:c.4870A>G NP_001394660.1:p.Lys1624Glu missense NM_001407732.1:c.4867A>G NP_001394661.1:p.Lys1623Glu missense NM_001407733.1:c.4867A>G NP_001394662.1:p.Lys1623Glu missense NM_001407734.1:c.4867A>G NP_001394663.1:p.Lys1623Glu missense NM_001407735.1:c.4867A>G NP_001394664.1:p.Lys1623Glu missense NM_001407736.1:c.4867A>G NP_001394665.1:p.Lys1623Glu missense NM_001407737.1:c.4867A>G NP_001394666.1:p.Lys1623Glu missense NM_001407738.1:c.4867A>G NP_001394667.1:p.Lys1623Glu missense NM_001407739.1:c.4867A>G NP_001394668.1:p.Lys1623Glu missense NM_001407740.1:c.4867A>G NP_001394669.1:p.Lys1623Glu missense NM_001407741.1:c.4867A>G NP_001394670.1:p.Lys1623Glu missense NM_001407742.1:c.4867A>G NP_001394671.1:p.Lys1623Glu missense NM_001407743.1:c.4867A>G NP_001394672.1:p.Lys1623Glu missense NM_001407744.1:c.4867A>G NP_001394673.1:p.Lys1623Glu missense NM_001407745.1:c.4867A>G NP_001394674.1:p.Lys1623Glu missense NM_001407746.1:c.4867A>G NP_001394675.1:p.Lys1623Glu missense NM_001407747.1:c.4867A>G NP_001394676.1:p.Lys1623Glu missense NM_001407748.1:c.4867A>G NP_001394677.1:p.Lys1623Glu missense NM_001407749.1:c.4867A>G NP_001394678.1:p.Lys1623Glu missense NM_001407750.1:c.4867A>G NP_001394679.1:p.Lys1623Glu missense NM_001407751.1:c.4867A>G NP_001394680.1:p.Lys1623Glu missense NM_001407752.1:c.4867A>G NP_001394681.1:p.Lys1623Glu missense NM_001407838.1:c.4864A>G NP_001394767.1:p.Lys1622Glu missense NM_001407839.1:c.4864A>G NP_001394768.1:p.Lys1622Glu missense NM_001407841.1:c.4864A>G NP_001394770.1:p.Lys1622Glu missense NM_001407842.1:c.4864A>G NP_001394771.1:p.Lys1622Glu missense NM_001407843.1:c.4864A>G NP_001394772.1:p.Lys1622Glu missense NM_001407844.1:c.4864A>G NP_001394773.1:p.Lys1622Glu missense NM_001407845.1:c.4864A>G NP_001394774.1:p.Lys1622Glu missense NM_001407846.1:c.4864A>G NP_001394775.1:p.Lys1622Glu missense NM_001407847.1:c.4864A>G NP_001394776.1:p.Lys1622Glu missense NM_001407848.1:c.4864A>G NP_001394777.1:p.Lys1622Glu missense NM_001407849.1:c.4864A>G NP_001394778.1:p.Lys1622Glu missense NM_001407850.1:c.4864A>G NP_001394779.1:p.Lys1622Glu missense NM_001407851.1:c.4864A>G NP_001394780.1:p.Lys1622Glu missense NM_001407852.1:c.4864A>G NP_001394781.1:p.Lys1622Glu missense NM_001407853.1:c.4864A>G NP_001394782.1:p.Lys1622Glu missense NM_001407854.1:c.5011A>G NP_001394783.1:p.Lys1671Glu missense NM_001407858.1:c.5008A>G NP_001394787.1:p.Lys1670Glu missense NM_001407859.1:c.5008A>G NP_001394788.1:p.Lys1670Glu missense NM_001407860.1:c.5008A>G NP_001394789.1:p.Lys1670Glu missense NM_001407861.1:c.5005A>G NP_001394790.1:p.Lys1669Glu missense NM_001407862.1:c.4810A>G NP_001394791.1:p.Lys1604Glu missense NM_001407863.1:c.4885A>G NP_001394792.1:p.Lys1629Glu missense NM_001407874.1:c.4804A>G NP_001394803.1:p.Lys1602Glu missense NM_001407875.1:c.4804A>G NP_001394804.1:p.Lys1602Glu missense NM_001407879.1:c.4801A>G NP_001394808.1:p.Lys1601Glu missense NM_001407881.1:c.4801A>G NP_001394810.1:p.Lys1601Glu missense NM_001407882.1:c.4801A>G NP_001394811.1:p.Lys1601Glu missense NM_001407884.1:c.4801A>G NP_001394813.1:p.Lys1601Glu missense NM_001407885.1:c.4801A>G NP_001394814.1:p.Lys1601Glu missense NM_001407886.1:c.4801A>G NP_001394815.1:p.Lys1601Glu missense NM_001407887.1:c.4801A>G NP_001394816.1:p.Lys1601Glu missense NM_001407889.1:c.4801A>G NP_001394818.1:p.Lys1601Glu missense NM_001407894.1:c.4798A>G NP_001394823.1:p.Lys1600Glu missense NM_001407895.1:c.4798A>G NP_001394824.1:p.Lys1600Glu missense NM_001407896.1:c.4798A>G NP_001394825.1:p.Lys1600Glu missense NM_001407897.1:c.4798A>G NP_001394826.1:p.Lys1600Glu missense NM_001407898.1:c.4798A>G NP_001394827.1:p.Lys1600Glu missense NM_001407899.1:c.4798A>G NP_001394828.1:p.Lys1600Glu missense NM_001407900.1:c.4798A>G NP_001394829.1:p.Lys1600Glu missense NM_001407902.1:c.4798A>G NP_001394831.1:p.Lys1600Glu missense NM_001407904.1:c.4798A>G NP_001394833.1:p.Lys1600Glu missense NM_001407906.1:c.4798A>G NP_001394835.1:p.Lys1600Glu missense NM_001407907.1:c.4798A>G NP_001394836.1:p.Lys1600Glu missense NM_001407908.1:c.4798A>G NP_001394837.1:p.Lys1600Glu missense NM_001407909.1:c.4798A>G NP_001394838.1:p.Lys1600Glu missense NM_001407910.1:c.4798A>G NP_001394839.1:p.Lys1600Glu missense NM_001407915.1:c.4795A>G NP_001394844.1:p.Lys1599Glu missense NM_001407916.1:c.4795A>G NP_001394845.1:p.Lys1599Glu missense NM_001407917.1:c.4795A>G NP_001394846.1:p.Lys1599Glu missense NM_001407918.1:c.4795A>G NP_001394847.1:p.Lys1599Glu missense NM_001407919.1:c.4888A>G NP_001394848.1:p.Lys1630Glu missense NM_001407920.1:c.4747A>G NP_001394849.1:p.Lys1583Glu missense NM_001407921.1:c.4747A>G NP_001394850.1:p.Lys1583Glu missense NM_001407922.1:c.4747A>G NP_001394851.1:p.Lys1583Glu missense NM_001407923.1:c.4747A>G NP_001394852.1:p.Lys1583Glu missense NM_001407924.1:c.4747A>G NP_001394853.1:p.Lys1583Glu missense NM_001407925.1:c.4747A>G NP_001394854.1:p.Lys1583Glu missense NM_001407926.1:c.4747A>G NP_001394855.1:p.Lys1583Glu missense NM_001407927.1:c.4744A>G NP_001394856.1:p.Lys1582Glu missense NM_001407928.1:c.4744A>G NP_001394857.1:p.Lys1582Glu missense NM_001407929.1:c.4744A>G NP_001394858.1:p.Lys1582Glu missense NM_001407930.1:c.4744A>G NP_001394859.1:p.Lys1582Glu missense NM_001407931.1:c.4744A>G NP_001394860.1:p.Lys1582Glu missense NM_001407932.1:c.4744A>G NP_001394861.1:p.Lys1582Glu missense NM_001407933.1:c.4744A>G NP_001394862.1:p.Lys1582Glu missense NM_001407934.1:c.4741A>G NP_001394863.1:p.Lys1581Glu missense NM_001407935.1:c.4741A>G NP_001394864.1:p.Lys1581Glu missense NM_001407936.1:c.4741A>G NP_001394865.1:p.Lys1581Glu missense NM_001407937.1:c.4888A>G NP_001394866.1:p.Lys1630Glu missense NM_001407938.1:c.4888A>G NP_001394867.1:p.Lys1630Glu missense NM_001407939.1:c.4885A>G NP_001394868.1:p.Lys1629Glu missense NM_001407940.1:c.4885A>G NP_001394869.1:p.Lys1629Glu missense NM_001407941.1:c.4882A>G NP_001394870.1:p.Lys1628Glu missense NM_001407942.1:c.4870A>G NP_001394871.1:p.Lys1624Glu missense NM_001407943.1:c.4867A>G NP_001394872.1:p.Lys1623Glu missense NM_001407944.1:c.4867A>G NP_001394873.1:p.Lys1623Glu missense NM_001407945.1:c.4867A>G NP_001394874.1:p.Lys1623Glu missense NM_001407946.1:c.4678A>G NP_001394875.1:p.Lys1560Glu missense NM_001407947.1:c.4678A>G NP_001394876.1:p.Lys1560Glu missense NM_001407948.1:c.4678A>G NP_001394877.1:p.Lys1560Glu missense NM_001407949.1:c.4678A>G NP_001394878.1:p.Lys1560Glu missense NM_001407950.1:c.4675A>G NP_001394879.1:p.Lys1559Glu missense NM_001407951.1:c.4675A>G NP_001394880.1:p.Lys1559Glu missense NM_001407952.1:c.4675A>G NP_001394881.1:p.Lys1559Glu missense NM_001407953.1:c.4675A>G NP_001394882.1:p.Lys1559Glu missense NM_001407954.1:c.4675A>G NP_001394883.1:p.Lys1559Glu missense NM_001407955.1:c.4675A>G NP_001394884.1:p.Lys1559Glu missense NM_001407956.1:c.4672A>G NP_001394885.1:p.Lys1558Glu missense NM_001407957.1:c.4672A>G NP_001394886.1:p.Lys1558Glu missense NM_001407958.1:c.4672A>G NP_001394887.1:p.Lys1558Glu missense NM_001407959.1:c.4630A>G NP_001394888.1:p.Lys1544Glu missense NM_001407960.1:c.4627A>G NP_001394889.1:p.Lys1543Glu missense NM_001407962.1:c.4627A>G NP_001394891.1:p.Lys1543Glu missense NM_001407963.1:c.4624A>G NP_001394892.1:p.Lys1542Glu missense NM_001407964.1:c.4549A>G NP_001394893.1:p.Lys1517Glu missense NM_001407965.1:c.4504A>G NP_001394894.1:p.Lys1502Glu missense NM_001407966.1:c.4123A>G NP_001394895.1:p.Lys1375Glu missense NM_001407967.1:c.4120A>G NP_001394896.1:p.Lys1374Glu missense NM_001407968.1:c.2407A>G NP_001394897.1:p.Lys803Glu missense NM_001407969.1:c.2404A>G NP_001394898.1:p.Lys802Glu missense NM_001407970.1:c.1768A>G NP_001394899.1:p.Lys590Glu missense NM_001407971.1:c.1768A>G NP_001394900.1:p.Lys590Glu missense NM_001407972.1:c.1765A>G NP_001394901.1:p.Lys589Glu missense NM_001407973.1:c.1702A>G NP_001394902.1:p.Lys568Glu missense NM_001407974.1:c.1702A>G NP_001394903.1:p.Lys568Glu missense NM_001407975.1:c.1702A>G NP_001394904.1:p.Lys568Glu missense NM_001407976.1:c.1702A>G NP_001394905.1:p.Lys568Glu missense NM_001407977.1:c.1702A>G NP_001394906.1:p.Lys568Glu missense NM_001407978.1:c.1702A>G NP_001394907.1:p.Lys568Glu missense NM_001407979.1:c.1699A>G NP_001394908.1:p.Lys567Glu missense NM_001407980.1:c.1699A>G NP_001394909.1:p.Lys567Glu missense NM_001407981.1:c.1699A>G NP_001394910.1:p.Lys567Glu missense NM_001407982.1:c.1699A>G NP_001394911.1:p.Lys567Glu missense NM_001407983.1:c.1699A>G NP_001394912.1:p.Lys567Glu missense NM_001407984.1:c.1699A>G NP_001394913.1:p.Lys567Glu missense NM_001407985.1:c.1699A>G NP_001394914.1:p.Lys567Glu missense NM_001407986.1:c.1699A>G NP_001394915.1:p.Lys567Glu missense NM_001407990.1:c.1699A>G NP_001394919.1:p.Lys567Glu missense NM_001407991.1:c.1699A>G NP_001394920.1:p.Lys567Glu missense NM_001407992.1:c.1699A>G NP_001394921.1:p.Lys567Glu missense NM_001407993.1:c.1699A>G NP_001394922.1:p.Lys567Glu missense NM_001408392.1:c.1696A>G NP_001395321.1:p.Lys566Glu missense NM_001408396.1:c.1696A>G NP_001395325.1:p.Lys566Glu missense NM_001408397.1:c.1696A>G NP_001395326.1:p.Lys566Glu missense NM_001408398.1:c.1696A>G NP_001395327.1:p.Lys566Glu missense NM_001408399.1:c.1696A>G NP_001395328.1:p.Lys566Glu missense NM_001408400.1:c.1696A>G NP_001395329.1:p.Lys566Glu missense NM_001408401.1:c.1696A>G NP_001395330.1:p.Lys566Glu missense NM_001408402.1:c.1696A>G NP_001395331.1:p.Lys566Glu missense NM_001408403.1:c.1696A>G NP_001395332.1:p.Lys566Glu missense NM_001408404.1:c.1696A>G NP_001395333.1:p.Lys566Glu missense NM_001408406.1:c.1693A>G NP_001395335.1:p.Lys565Glu missense NM_001408407.1:c.1693A>G NP_001395336.1:p.Lys565Glu missense NM_001408408.1:c.1693A>G NP_001395337.1:p.Lys565Glu missense NM_001408409.1:c.1690A>G NP_001395338.1:p.Lys564Glu missense NM_001408410.1:c.1627A>G NP_001395339.1:p.Lys543Glu missense NM_001408411.1:c.1624A>G NP_001395340.1:p.Lys542Glu missense NM_001408412.1:c.1621A>G NP_001395341.1:p.Lys541Glu missense NM_001408413.1:c.1621A>G NP_001395342.1:p.Lys541Glu missense NM_001408414.1:c.1621A>G NP_001395343.1:p.Lys541Glu missense NM_001408415.1:c.1621A>G NP_001395344.1:p.Lys541Glu missense NM_001408416.1:c.1621A>G NP_001395345.1:p.Lys541Glu missense NM_001408418.1:c.1585A>G NP_001395347.1:p.Lys529Glu missense NM_001408419.1:c.1585A>G NP_001395348.1:p.Lys529Glu missense NM_001408420.1:c.1585A>G NP_001395349.1:p.Lys529Glu missense NM_001408421.1:c.1582A>G NP_001395350.1:p.Lys528Glu missense NM_001408422.1:c.1582A>G NP_001395351.1:p.Lys528Glu missense NM_001408423.1:c.1582A>G NP_001395352.1:p.Lys528Glu missense NM_001408424.1:c.1582A>G NP_001395353.1:p.Lys528Glu missense NM_001408425.1:c.1579A>G NP_001395354.1:p.Lys527Glu missense NM_001408426.1:c.1579A>G NP_001395355.1:p.Lys527Glu missense NM_001408427.1:c.1579A>G NP_001395356.1:p.Lys527Glu missense NM_001408428.1:c.1579A>G NP_001395357.1:p.Lys527Glu missense NM_001408429.1:c.1579A>G NP_001395358.1:p.Lys527Glu missense NM_001408430.1:c.1579A>G NP_001395359.1:p.Lys527Glu missense NM_001408431.1:c.1579A>G NP_001395360.1:p.Lys527Glu missense NM_001408432.1:c.1576A>G NP_001395361.1:p.Lys526Glu missense NM_001408433.1:c.1576A>G NP_001395362.1:p.Lys526Glu missense NM_001408434.1:c.1576A>G NP_001395363.1:p.Lys526Glu missense NM_001408435.1:c.1576A>G NP_001395364.1:p.Lys526Glu missense NM_001408436.1:c.1576A>G NP_001395365.1:p.Lys526Glu missense NM_001408437.1:c.1576A>G NP_001395366.1:p.Lys526Glu missense NM_001408438.1:c.1576A>G NP_001395367.1:p.Lys526Glu missense NM_001408439.1:c.1576A>G NP_001395368.1:p.Lys526Glu missense NM_001408440.1:c.1576A>G NP_001395369.1:p.Lys526Glu missense NM_001408441.1:c.1576A>G NP_001395370.1:p.Lys526Glu missense NM_001408442.1:c.1576A>G NP_001395371.1:p.Lys526Glu missense NM_001408443.1:c.1576A>G NP_001395372.1:p.Lys526Glu missense NM_001408444.1:c.1576A>G NP_001395373.1:p.Lys526Glu missense NM_001408445.1:c.1573A>G NP_001395374.1:p.Lys525Glu missense NM_001408446.1:c.1573A>G NP_001395375.1:p.Lys525Glu missense NM_001408447.1:c.1573A>G NP_001395376.1:p.Lys525Glu missense NM_001408448.1:c.1573A>G NP_001395377.1:p.Lys525Glu missense NM_001408450.1:c.1573A>G NP_001395379.1:p.Lys525Glu missense NM_001408451.1:c.1567A>G NP_001395380.1:p.Lys523Glu missense NM_001408452.1:c.1561A>G NP_001395381.1:p.Lys521Glu missense NM_001408453.1:c.1561A>G NP_001395382.1:p.Lys521Glu missense NM_001408454.1:c.1561A>G NP_001395383.1:p.Lys521Glu missense NM_001408455.1:c.1561A>G NP_001395384.1:p.Lys521Glu missense NM_001408456.1:c.1561A>G NP_001395385.1:p.Lys521Glu missense NM_001408457.1:c.1561A>G NP_001395386.1:p.Lys521Glu missense NM_001408458.1:c.1558A>G NP_001395387.1:p.Lys520Glu missense NM_001408459.1:c.1558A>G NP_001395388.1:p.Lys520Glu missense NM_001408460.1:c.1558A>G NP_001395389.1:p.Lys520Glu missense NM_001408461.1:c.1558A>G NP_001395390.1:p.Lys520Glu missense NM_001408462.1:c.1558A>G NP_001395391.1:p.Lys520Glu missense NM_001408463.1:c.1558A>G NP_001395392.1:p.Lys520Glu missense NM_001408464.1:c.1558A>G NP_001395393.1:p.Lys520Glu missense NM_001408465.1:c.1558A>G NP_001395394.1:p.Lys520Glu missense NM_001408466.1:c.1558A>G NP_001395395.1:p.Lys520Glu missense NM_001408467.1:c.1558A>G NP_001395396.1:p.Lys520Glu missense NM_001408468.1:c.1555A>G NP_001395397.1:p.Lys519Glu missense NM_001408469.1:c.1555A>G NP_001395398.1:p.Lys519Glu missense NM_001408470.1:c.1555A>G NP_001395399.1:p.Lys519Glu missense NM_001408472.1:c.1699A>G NP_001395401.1:p.Lys567Glu missense NM_001408473.1:c.1696A>G NP_001395402.1:p.Lys566Glu missense NM_001408474.1:c.1501A>G NP_001395403.1:p.Lys501Glu missense NM_001408475.1:c.1498A>G NP_001395404.1:p.Lys500Glu missense NM_001408476.1:c.1498A>G NP_001395405.1:p.Lys500Glu missense NM_001408478.1:c.1492A>G NP_001395407.1:p.Lys498Glu missense NM_001408479.1:c.1492A>G NP_001395408.1:p.Lys498Glu missense NM_001408480.1:c.1492A>G NP_001395409.1:p.Lys498Glu missense NM_001408481.1:c.1489A>G NP_001395410.1:p.Lys497Glu missense NM_001408482.1:c.1489A>G NP_001395411.1:p.Lys497Glu missense NM_001408483.1:c.1489A>G NP_001395412.1:p.Lys497Glu missense NM_001408484.1:c.1489A>G NP_001395413.1:p.Lys497Glu missense NM_001408485.1:c.1489A>G NP_001395414.1:p.Lys497Glu missense NM_001408489.1:c.1489A>G NP_001395418.1:p.Lys497Glu missense NM_001408490.1:c.1489A>G NP_001395419.1:p.Lys497Glu missense NM_001408491.1:c.1489A>G NP_001395420.1:p.Lys497Glu missense NM_001408492.1:c.1486A>G NP_001395421.1:p.Lys496Glu missense NM_001408493.1:c.1486A>G NP_001395422.1:p.Lys496Glu missense NM_001408494.1:c.1462A>G NP_001395423.1:p.Lys488Glu missense NM_001408495.1:c.1456A>G NP_001395424.1:p.Lys486Glu missense NM_001408496.1:c.1438A>G NP_001395425.1:p.Lys480Glu missense NM_001408497.1:c.1438A>G NP_001395426.1:p.Lys480Glu missense NM_001408498.1:c.1438A>G NP_001395427.1:p.Lys480Glu missense NM_001408499.1:c.1438A>G NP_001395428.1:p.Lys480Glu missense NM_001408500.1:c.1438A>G NP_001395429.1:p.Lys480Glu missense NM_001408501.1:c.1438A>G NP_001395430.1:p.Lys480Glu missense NM_001408502.1:c.1435A>G NP_001395431.1:p.Lys479Glu missense NM_001408503.1:c.1435A>G NP_001395432.1:p.Lys479Glu missense NM_001408504.1:c.1435A>G NP_001395433.1:p.Lys479Glu missense NM_001408505.1:c.1432A>G NP_001395434.1:p.Lys478Glu missense NM_001408506.1:c.1375A>G NP_001395435.1:p.Lys459Glu missense NM_001408507.1:c.1372A>G NP_001395436.1:p.Lys458Glu missense NM_001408508.1:c.1363A>G NP_001395437.1:p.Lys455Glu missense NM_001408509.1:c.1360A>G NP_001395438.1:p.Lys454Glu missense NM_001408510.1:c.1321A>G NP_001395439.1:p.Lys441Glu missense NM_001408511.1:c.1318A>G NP_001395440.1:p.Lys440Glu missense NM_001408512.1:c.1198A>G NP_001395441.1:p.Lys400Glu missense NM_001408513.1:c.1171A>G NP_001395442.1:p.Lys391Glu missense NM_007297.4:c.4870A>G NP_009228.2:p.Lys1624Glu missense NM_007298.4:c.1699A>G NP_009229.2:p.Lys567Glu missense NM_007299.4:c.1699A>G NP_009230.2:p.Lys567Glu missense NM_007300.4:c.5074A>G NP_009231.2:p.Lys1692Glu missense NM_007304.2:c.1699A>G NP_009235.2:p.Lys567Glu missense NR_027676.2:n.5188A>G non-coding transcript variant NC_000017.11:g.43067671T>C NC_000017.10:g.41219688T>C NG_005905.2:g.150313A>G LRG_292:g.150313A>G LRG_292t1:c.5011A>G LRG_292p1:p.Lys1671Glu - Protein change
- K1624E, K1692E, K567E, K1671E, K1502E, K1543E, K1544E, K1600E, K1604E, K1630E, K454E, K455E, K496E, K497E, K500E, K520E, K521E, K528E, K589E, K1542E, K1558E, K1559E, K1582E, K1599E, K1602E, K1623E, K1651E, K1652E, K1668E, K1670E, K1691E, K1693E, K441E, K459E, K478E, K488E, K501E, K525E, K526E, K527E, K542E, K564E, K566E, K803E, K1375E, K1517E, K1583E, K1601E, K1627E, K1629E, K1643E, K1666E, K1667E, K440E, K458E, K480E, K486E, K543E, K568E, K802E, K1374E, K1560E, K1581E, K1622E, K1628E, K1644E, K1645E, K1669E, K391E, K400E, K479E, K498E, K519E, K523E, K529E, K541E, K565E, K590E
- Other names
- -
- Canonical SPDI
- NC_000017.11:43067670:T:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- functionally_normal Sequence Ontology [SO:0002219]
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5011A>G, a MISSENSE variant, produced a function score of 0.09, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
-
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 | ||
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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. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12948 | 14741 |
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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not provided (1) |
no classification provided
|
- | RCV001076240.3 |
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. |
|
---|---|---|---|---|---|
not provided
(-)
|
no classification provided
Method: in vitro
|
Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001241958.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:0.091841339263101
|
Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
---|---|---|---|---|
functionally_normal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001241958.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5011A>G, a MISSENSE variant, produced a function score of 0.09, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5011A>G, a MISSENSE variant, produced a function score of 0.09, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
|
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs2052181996 ...
HelpRecord last updated Jun 23, 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.