This variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4466A>T (p.Lys1489Ile)
Germline
Classification
Help
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.
(2)
Help
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
2
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4466A>T (p.Lys1489Ile)
Variation ID: 951768 Accession: VCV000951768.11
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43076506 (GRCh38) [ NCBI UCSC ] 17: 41228523 (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 Jul 16, 2020 Feb 20, 2024 Aug 18, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4466A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys1489Ile missense NM_001407571.1:c.4253A>T NP_001394500.1:p.Lys1418Ile missense NM_001407581.1:c.4532A>T NP_001394510.1:p.Lys1511Ile missense NM_001407582.1:c.4532A>T NP_001394511.1:p.Lys1511Ile missense NM_001407583.1:c.4529A>T NP_001394512.1:p.Lys1510Ile missense NM_001407585.1:c.4529A>T NP_001394514.1:p.Lys1510Ile missense NM_001407587.1:c.4529A>T NP_001394516.1:p.Lys1510Ile missense NM_001407590.1:c.4526A>T NP_001394519.1:p.Lys1509Ile missense NM_001407591.1:c.4526A>T NP_001394520.1:p.Lys1509Ile missense NM_001407593.1:c.4466A>T NP_001394522.1:p.Lys1489Ile missense NM_001407594.1:c.4466A>T NP_001394523.1:p.Lys1489Ile missense NM_001407596.1:c.4466A>T NP_001394525.1:p.Lys1489Ile missense NM_001407597.1:c.4466A>T NP_001394526.1:p.Lys1489Ile missense NM_001407598.1:c.4466A>T NP_001394527.1:p.Lys1489Ile missense NM_001407602.1:c.4466A>T NP_001394531.1:p.Lys1489Ile missense NM_001407603.1:c.4466A>T NP_001394532.1:p.Lys1489Ile missense NM_001407605.1:c.4466A>T NP_001394534.1:p.Lys1489Ile missense NM_001407610.1:c.4463A>T NP_001394539.1:p.Lys1488Ile missense NM_001407611.1:c.4463A>T NP_001394540.1:p.Lys1488Ile missense NM_001407612.1:c.4463A>T NP_001394541.1:p.Lys1488Ile missense NM_001407613.1:c.4463A>T NP_001394542.1:p.Lys1488Ile missense NM_001407614.1:c.4463A>T NP_001394543.1:p.Lys1488Ile missense NM_001407615.1:c.4463A>T NP_001394544.1:p.Lys1488Ile missense NM_001407616.1:c.4463A>T NP_001394545.1:p.Lys1488Ile missense NM_001407617.1:c.4463A>T NP_001394546.1:p.Lys1488Ile missense NM_001407618.1:c.4463A>T NP_001394547.1:p.Lys1488Ile missense NM_001407619.1:c.4463A>T NP_001394548.1:p.Lys1488Ile missense NM_001407620.1:c.4463A>T NP_001394549.1:p.Lys1488Ile missense NM_001407621.1:c.4463A>T NP_001394550.1:p.Lys1488Ile missense NM_001407622.1:c.4463A>T NP_001394551.1:p.Lys1488Ile missense NM_001407623.1:c.4463A>T NP_001394552.1:p.Lys1488Ile missense NM_001407624.1:c.4463A>T NP_001394553.1:p.Lys1488Ile missense NM_001407625.1:c.4463A>T NP_001394554.1:p.Lys1488Ile missense NM_001407626.1:c.4463A>T NP_001394555.1:p.Lys1488Ile missense NM_001407627.1:c.4460A>T NP_001394556.1:p.Lys1487Ile missense NM_001407628.1:c.4460A>T NP_001394557.1:p.Lys1487Ile missense NM_001407629.1:c.4460A>T NP_001394558.1:p.Lys1487Ile missense NM_001407630.1:c.4460A>T NP_001394559.1:p.Lys1487Ile missense NM_001407631.1:c.4460A>T NP_001394560.1:p.Lys1487Ile missense NM_001407632.1:c.4460A>T NP_001394561.1:p.Lys1487Ile missense NM_001407633.1:c.4460A>T NP_001394562.1:p.Lys1487Ile missense NM_001407634.1:c.4460A>T NP_001394563.1:p.Lys1487Ile missense NM_001407635.1:c.4460A>T NP_001394564.1:p.Lys1487Ile missense NM_001407636.1:c.4460A>T NP_001394565.1:p.Lys1487Ile missense NM_001407637.1:c.4460A>T NP_001394566.1:p.Lys1487Ile missense NM_001407638.1:c.4460A>T NP_001394567.1:p.Lys1487Ile missense NM_001407639.1:c.4460A>T NP_001394568.1:p.Lys1487Ile missense NM_001407640.1:c.4460A>T NP_001394569.1:p.Lys1487Ile missense NM_001407641.1:c.4460A>T NP_001394570.1:p.Lys1487Ile missense NM_001407642.1:c.4460A>T NP_001394571.1:p.Lys1487Ile missense NM_001407644.1:c.4457A>T NP_001394573.1:p.Lys1486Ile missense NM_001407645.1:c.4457A>T NP_001394574.1:p.Lys1486Ile missense NM_001407646.1:c.4454A>T NP_001394575.1:p.Lys1485Ile missense NM_001407647.1:c.4451A>T NP_001394576.1:p.Lys1484Ile missense NM_001407648.1:c.4409A>T NP_001394577.1:p.Lys1470Ile missense NM_001407649.1:c.4406A>T NP_001394578.1:p.Lys1469Ile missense NM_001407652.1:c.4466A>T NP_001394581.1:p.Lys1489Ile missense NM_001407653.1:c.4388A>T NP_001394582.1:p.Lys1463Ile missense NM_001407654.1:c.4388A>T NP_001394583.1:p.Lys1463Ile missense NM_001407655.1:c.4388A>T NP_001394584.1:p.Lys1463Ile missense NM_001407656.1:c.4385A>T NP_001394585.1:p.Lys1462Ile missense NM_001407657.1:c.4385A>T NP_001394586.1:p.Lys1462Ile missense NM_001407658.1:c.4385A>T NP_001394587.1:p.Lys1462Ile missense NM_001407659.1:c.4382A>T NP_001394588.1:p.Lys1461Ile missense NM_001407660.1:c.4382A>T NP_001394589.1:p.Lys1461Ile missense NM_001407661.1:c.4382A>T NP_001394590.1:p.Lys1461Ile missense NM_001407662.1:c.4382A>T NP_001394591.1:p.Lys1461Ile missense NM_001407663.1:c.4382A>T NP_001394592.1:p.Lys1461Ile missense NM_001407664.1:c.4343A>T NP_001394593.1:p.Lys1448Ile missense NM_001407665.1:c.4343A>T NP_001394594.1:p.Lys1448Ile missense NM_001407666.1:c.4343A>T NP_001394595.1:p.Lys1448Ile missense NM_001407667.1:c.4343A>T NP_001394596.1:p.Lys1448Ile missense NM_001407668.1:c.4343A>T NP_001394597.1:p.Lys1448Ile missense NM_001407669.1:c.4343A>T NP_001394598.1:p.Lys1448Ile missense NM_001407670.1:c.4340A>T NP_001394599.1:p.Lys1447Ile missense NM_001407671.1:c.4340A>T NP_001394600.1:p.Lys1447Ile missense NM_001407672.1:c.4340A>T NP_001394601.1:p.Lys1447Ile missense NM_001407673.1:c.4340A>T NP_001394602.1:p.Lys1447Ile missense NM_001407674.1:c.4340A>T NP_001394603.1:p.Lys1447Ile missense NM_001407675.1:c.4340A>T NP_001394604.1:p.Lys1447Ile missense NM_001407676.1:c.4340A>T NP_001394605.1:p.Lys1447Ile missense NM_001407677.1:c.4340A>T NP_001394606.1:p.Lys1447Ile missense NM_001407678.1:c.4340A>T NP_001394607.1:p.Lys1447Ile missense NM_001407679.1:c.4340A>T NP_001394608.1:p.Lys1447Ile missense NM_001407680.1:c.4340A>T NP_001394609.1:p.Lys1447Ile missense NM_001407681.1:c.4337A>T NP_001394610.1:p.Lys1446Ile missense NM_001407682.1:c.4337A>T NP_001394611.1:p.Lys1446Ile missense NM_001407683.1:c.4337A>T NP_001394612.1:p.Lys1446Ile missense NM_001407684.1:c.4466A>T NP_001394613.1:p.Lys1489Ile missense NM_001407685.1:c.4337A>T NP_001394614.1:p.Lys1446Ile missense NM_001407686.1:c.4337A>T NP_001394615.1:p.Lys1446Ile missense NM_001407687.1:c.4337A>T NP_001394616.1:p.Lys1446Ile missense NM_001407688.1:c.4337A>T NP_001394617.1:p.Lys1446Ile missense NM_001407689.1:c.4337A>T NP_001394618.1:p.Lys1446Ile missense NM_001407690.1:c.4334A>T NP_001394619.1:p.Lys1445Ile missense NM_001407691.1:c.4334A>T NP_001394620.1:p.Lys1445Ile missense NM_001407692.1:c.4325A>T NP_001394621.1:p.Lys1442Ile missense NM_001407694.1:c.4325A>T NP_001394623.1:p.Lys1442Ile missense NM_001407695.1:c.4325A>T NP_001394624.1:p.Lys1442Ile missense NM_001407696.1:c.4325A>T NP_001394625.1:p.Lys1442Ile missense NM_001407697.1:c.4325A>T NP_001394626.1:p.Lys1442Ile missense NM_001407698.1:c.4325A>T NP_001394627.1:p.Lys1442Ile missense NM_001407724.1:c.4325A>T NP_001394653.1:p.Lys1442Ile missense NM_001407725.1:c.4325A>T NP_001394654.1:p.Lys1442Ile missense NM_001407726.1:c.4325A>T NP_001394655.1:p.Lys1442Ile missense NM_001407727.1:c.4325A>T NP_001394656.1:p.Lys1442Ile missense NM_001407728.1:c.4325A>T NP_001394657.1:p.Lys1442Ile missense NM_001407729.1:c.4325A>T NP_001394658.1:p.Lys1442Ile missense NM_001407730.1:c.4325A>T NP_001394659.1:p.Lys1442Ile missense NM_001407731.1:c.4325A>T NP_001394660.1:p.Lys1442Ile missense NM_001407732.1:c.4322A>T NP_001394661.1:p.Lys1441Ile missense NM_001407733.1:c.4322A>T NP_001394662.1:p.Lys1441Ile missense NM_001407734.1:c.4322A>T NP_001394663.1:p.Lys1441Ile missense NM_001407735.1:c.4322A>T NP_001394664.1:p.Lys1441Ile missense NM_001407736.1:c.4322A>T NP_001394665.1:p.Lys1441Ile missense NM_001407737.1:c.4322A>T NP_001394666.1:p.Lys1441Ile missense NM_001407738.1:c.4322A>T NP_001394667.1:p.Lys1441Ile missense NM_001407739.1:c.4322A>T NP_001394668.1:p.Lys1441Ile missense NM_001407740.1:c.4322A>T NP_001394669.1:p.Lys1441Ile missense NM_001407741.1:c.4322A>T NP_001394670.1:p.Lys1441Ile missense NM_001407742.1:c.4322A>T NP_001394671.1:p.Lys1441Ile missense NM_001407743.1:c.4322A>T NP_001394672.1:p.Lys1441Ile missense NM_001407744.1:c.4322A>T NP_001394673.1:p.Lys1441Ile missense NM_001407745.1:c.4322A>T NP_001394674.1:p.Lys1441Ile missense NM_001407746.1:c.4322A>T NP_001394675.1:p.Lys1441Ile missense NM_001407747.1:c.4322A>T NP_001394676.1:p.Lys1441Ile missense NM_001407748.1:c.4322A>T NP_001394677.1:p.Lys1441Ile missense NM_001407749.1:c.4322A>T NP_001394678.1:p.Lys1441Ile missense NM_001407750.1:c.4322A>T NP_001394679.1:p.Lys1441Ile missense NM_001407751.1:c.4322A>T NP_001394680.1:p.Lys1441Ile missense NM_001407752.1:c.4322A>T NP_001394681.1:p.Lys1441Ile missense NM_001407838.1:c.4319A>T NP_001394767.1:p.Lys1440Ile missense NM_001407839.1:c.4319A>T NP_001394768.1:p.Lys1440Ile missense NM_001407841.1:c.4319A>T NP_001394770.1:p.Lys1440Ile missense NM_001407842.1:c.4319A>T NP_001394771.1:p.Lys1440Ile missense NM_001407843.1:c.4319A>T NP_001394772.1:p.Lys1440Ile missense NM_001407844.1:c.4319A>T NP_001394773.1:p.Lys1440Ile missense NM_001407845.1:c.4319A>T NP_001394774.1:p.Lys1440Ile missense NM_001407846.1:c.4319A>T NP_001394775.1:p.Lys1440Ile missense NM_001407847.1:c.4319A>T NP_001394776.1:p.Lys1440Ile missense NM_001407848.1:c.4319A>T NP_001394777.1:p.Lys1440Ile missense NM_001407849.1:c.4319A>T NP_001394778.1:p.Lys1440Ile missense NM_001407850.1:c.4319A>T NP_001394779.1:p.Lys1440Ile missense NM_001407851.1:c.4319A>T NP_001394780.1:p.Lys1440Ile missense NM_001407852.1:c.4319A>T NP_001394781.1:p.Lys1440Ile missense NM_001407853.1:c.4319A>T NP_001394782.1:p.Lys1440Ile missense NM_001407854.1:c.4466A>T NP_001394783.1:p.Lys1489Ile missense NM_001407858.1:c.4463A>T NP_001394787.1:p.Lys1488Ile missense NM_001407859.1:c.4463A>T NP_001394788.1:p.Lys1488Ile missense NM_001407860.1:c.4463A>T NP_001394789.1:p.Lys1488Ile missense NM_001407861.1:c.4460A>T NP_001394790.1:p.Lys1487Ile missense NM_001407862.1:c.4265A>T NP_001394791.1:p.Lys1422Ile missense NM_001407863.1:c.4340A>T NP_001394792.1:p.Lys1447Ile missense NM_001407874.1:c.4259A>T NP_001394803.1:p.Lys1420Ile missense NM_001407875.1:c.4259A>T NP_001394804.1:p.Lys1420Ile missense NM_001407879.1:c.4256A>T NP_001394808.1:p.Lys1419Ile missense NM_001407881.1:c.4256A>T NP_001394810.1:p.Lys1419Ile missense NM_001407882.1:c.4256A>T NP_001394811.1:p.Lys1419Ile missense NM_001407884.1:c.4256A>T NP_001394813.1:p.Lys1419Ile missense NM_001407885.1:c.4256A>T NP_001394814.1:p.Lys1419Ile missense NM_001407886.1:c.4256A>T NP_001394815.1:p.Lys1419Ile missense NM_001407887.1:c.4256A>T NP_001394816.1:p.Lys1419Ile missense NM_001407889.1:c.4256A>T NP_001394818.1:p.Lys1419Ile missense NM_001407894.1:c.4253A>T NP_001394823.1:p.Lys1418Ile missense NM_001407895.1:c.4253A>T NP_001394824.1:p.Lys1418Ile missense NM_001407896.1:c.4253A>T NP_001394825.1:p.Lys1418Ile missense NM_001407897.1:c.4253A>T NP_001394826.1:p.Lys1418Ile missense NM_001407898.1:c.4253A>T NP_001394827.1:p.Lys1418Ile missense NM_001407899.1:c.4253A>T NP_001394828.1:p.Lys1418Ile missense NM_001407900.1:c.4253A>T NP_001394829.1:p.Lys1418Ile missense NM_001407902.1:c.4253A>T NP_001394831.1:p.Lys1418Ile missense NM_001407904.1:c.4253A>T NP_001394833.1:p.Lys1418Ile missense NM_001407906.1:c.4253A>T NP_001394835.1:p.Lys1418Ile missense NM_001407907.1:c.4253A>T NP_001394836.1:p.Lys1418Ile missense NM_001407908.1:c.4253A>T NP_001394837.1:p.Lys1418Ile missense NM_001407909.1:c.4253A>T NP_001394838.1:p.Lys1418Ile missense NM_001407910.1:c.4253A>T NP_001394839.1:p.Lys1418Ile missense NM_001407915.1:c.4250A>T NP_001394844.1:p.Lys1417Ile missense NM_001407916.1:c.4250A>T NP_001394845.1:p.Lys1417Ile missense NM_001407917.1:c.4250A>T NP_001394846.1:p.Lys1417Ile missense NM_001407918.1:c.4250A>T NP_001394847.1:p.Lys1417Ile missense NM_001407919.1:c.4343A>T NP_001394848.1:p.Lys1448Ile missense NM_001407920.1:c.4202A>T NP_001394849.1:p.Lys1401Ile missense NM_001407921.1:c.4202A>T NP_001394850.1:p.Lys1401Ile missense NM_001407922.1:c.4202A>T NP_001394851.1:p.Lys1401Ile missense NM_001407923.1:c.4202A>T NP_001394852.1:p.Lys1401Ile missense NM_001407924.1:c.4202A>T NP_001394853.1:p.Lys1401Ile missense NM_001407925.1:c.4202A>T NP_001394854.1:p.Lys1401Ile missense NM_001407926.1:c.4202A>T NP_001394855.1:p.Lys1401Ile missense NM_001407927.1:c.4199A>T NP_001394856.1:p.Lys1400Ile missense NM_001407928.1:c.4199A>T NP_001394857.1:p.Lys1400Ile missense NM_001407929.1:c.4199A>T NP_001394858.1:p.Lys1400Ile missense NM_001407930.1:c.4199A>T NP_001394859.1:p.Lys1400Ile missense NM_001407931.1:c.4199A>T NP_001394860.1:p.Lys1400Ile missense NM_001407932.1:c.4199A>T NP_001394861.1:p.Lys1400Ile missense NM_001407933.1:c.4199A>T NP_001394862.1:p.Lys1400Ile missense NM_001407934.1:c.4196A>T NP_001394863.1:p.Lys1399Ile missense NM_001407935.1:c.4196A>T NP_001394864.1:p.Lys1399Ile missense NM_001407936.1:c.4196A>T NP_001394865.1:p.Lys1399Ile missense NM_001407937.1:c.4343A>T NP_001394866.1:p.Lys1448Ile missense NM_001407938.1:c.4343A>T NP_001394867.1:p.Lys1448Ile missense NM_001407939.1:c.4340A>T NP_001394868.1:p.Lys1447Ile missense NM_001407940.1:c.4340A>T NP_001394869.1:p.Lys1447Ile missense NM_001407941.1:c.4337A>T NP_001394870.1:p.Lys1446Ile missense NM_001407942.1:c.4325A>T NP_001394871.1:p.Lys1442Ile missense NM_001407943.1:c.4322A>T NP_001394872.1:p.Lys1441Ile missense NM_001407944.1:c.4322A>T NP_001394873.1:p.Lys1441Ile missense NM_001407945.1:c.4322A>T NP_001394874.1:p.Lys1441Ile missense NM_001407946.1:c.4133A>T NP_001394875.1:p.Lys1378Ile missense NM_001407947.1:c.4133A>T NP_001394876.1:p.Lys1378Ile missense NM_001407948.1:c.4133A>T NP_001394877.1:p.Lys1378Ile missense NM_001407949.1:c.4133A>T NP_001394878.1:p.Lys1378Ile missense NM_001407950.1:c.4130A>T NP_001394879.1:p.Lys1377Ile missense NM_001407951.1:c.4130A>T NP_001394880.1:p.Lys1377Ile missense NM_001407952.1:c.4130A>T NP_001394881.1:p.Lys1377Ile missense NM_001407953.1:c.4130A>T NP_001394882.1:p.Lys1377Ile missense NM_001407954.1:c.4130A>T NP_001394883.1:p.Lys1377Ile missense NM_001407955.1:c.4130A>T NP_001394884.1:p.Lys1377Ile missense NM_001407956.1:c.4127A>T NP_001394885.1:p.Lys1376Ile missense NM_001407957.1:c.4127A>T NP_001394886.1:p.Lys1376Ile missense NM_001407958.1:c.4127A>T NP_001394887.1:p.Lys1376Ile missense NM_001407959.1:c.4085A>T NP_001394888.1:p.Lys1362Ile missense NM_001407960.1:c.4082A>T NP_001394889.1:p.Lys1361Ile missense NM_001407962.1:c.4082A>T NP_001394891.1:p.Lys1361Ile missense NM_001407963.1:c.4079A>T NP_001394892.1:p.Lys1360Ile missense NM_001407965.1:c.3959A>T NP_001394894.1:p.Lys1320Ile missense NM_001407966.1:c.3578A>T NP_001394895.1:p.Lys1193Ile missense NM_001407967.1:c.3575A>T NP_001394896.1:p.Lys1192Ile missense NM_001407968.1:c.1862A>T NP_001394897.1:p.Lys621Ile missense NM_001407969.1:c.1859A>T NP_001394898.1:p.Lys620Ile missense NM_001407970.1:c.1223A>T NP_001394899.1:p.Lys408Ile missense NM_001407971.1:c.1223A>T NP_001394900.1:p.Lys408Ile missense NM_001407972.1:c.1220A>T NP_001394901.1:p.Lys407Ile missense NM_001407973.1:c.1157A>T NP_001394902.1:p.Lys386Ile missense NM_001407974.1:c.1157A>T NP_001394903.1:p.Lys386Ile missense NM_001407975.1:c.1157A>T NP_001394904.1:p.Lys386Ile missense NM_001407976.1:c.1157A>T NP_001394905.1:p.Lys386Ile missense NM_001407977.1:c.1157A>T NP_001394906.1:p.Lys386Ile missense NM_001407978.1:c.1157A>T NP_001394907.1:p.Lys386Ile missense NM_001407979.1:c.1154A>T NP_001394908.1:p.Lys385Ile missense NM_001407980.1:c.1154A>T NP_001394909.1:p.Lys385Ile missense NM_001407981.1:c.1154A>T NP_001394910.1:p.Lys385Ile missense NM_001407982.1:c.1154A>T NP_001394911.1:p.Lys385Ile missense NM_001407983.1:c.1154A>T NP_001394912.1:p.Lys385Ile missense NM_001407984.1:c.1154A>T NP_001394913.1:p.Lys385Ile missense NM_001407985.1:c.1154A>T NP_001394914.1:p.Lys385Ile missense NM_001407986.1:c.1154A>T NP_001394915.1:p.Lys385Ile missense NM_001407990.1:c.1154A>T NP_001394919.1:p.Lys385Ile missense NM_001407991.1:c.1154A>T NP_001394920.1:p.Lys385Ile missense NM_001407992.1:c.1154A>T NP_001394921.1:p.Lys385Ile missense NM_001407993.1:c.1154A>T NP_001394922.1:p.Lys385Ile missense NM_001408392.1:c.1151A>T NP_001395321.1:p.Lys384Ile missense NM_001408396.1:c.1151A>T NP_001395325.1:p.Lys384Ile missense NM_001408397.1:c.1151A>T NP_001395326.1:p.Lys384Ile missense NM_001408398.1:c.1151A>T NP_001395327.1:p.Lys384Ile missense NM_001408399.1:c.1151A>T NP_001395328.1:p.Lys384Ile missense NM_001408400.1:c.1151A>T NP_001395329.1:p.Lys384Ile missense NM_001408401.1:c.1151A>T NP_001395330.1:p.Lys384Ile missense NM_001408402.1:c.1151A>T NP_001395331.1:p.Lys384Ile missense NM_001408403.1:c.1151A>T NP_001395332.1:p.Lys384Ile missense NM_001408404.1:c.1151A>T NP_001395333.1:p.Lys384Ile missense NM_001408406.1:c.1148A>T NP_001395335.1:p.Lys383Ile missense NM_001408407.1:c.1148A>T NP_001395336.1:p.Lys383Ile missense NM_001408408.1:c.1148A>T NP_001395337.1:p.Lys383Ile missense NM_001408409.1:c.1145A>T NP_001395338.1:p.Lys382Ile missense NM_001408410.1:c.1082A>T NP_001395339.1:p.Lys361Ile missense NM_001408411.1:c.1079A>T NP_001395340.1:p.Lys360Ile missense NM_001408412.1:c.1076A>T NP_001395341.1:p.Lys359Ile missense NM_001408413.1:c.1076A>T NP_001395342.1:p.Lys359Ile missense NM_001408414.1:c.1076A>T NP_001395343.1:p.Lys359Ile missense NM_001408415.1:c.1076A>T NP_001395344.1:p.Lys359Ile missense NM_001408416.1:c.1076A>T NP_001395345.1:p.Lys359Ile missense NM_001408418.1:c.1040A>T NP_001395347.1:p.Lys347Ile missense NM_001408419.1:c.1040A>T NP_001395348.1:p.Lys347Ile missense NM_001408420.1:c.1040A>T NP_001395349.1:p.Lys347Ile missense NM_001408421.1:c.1037A>T NP_001395350.1:p.Lys346Ile missense NM_001408422.1:c.1037A>T NP_001395351.1:p.Lys346Ile missense NM_001408423.1:c.1037A>T NP_001395352.1:p.Lys346Ile missense NM_001408424.1:c.1037A>T NP_001395353.1:p.Lys346Ile missense NM_001408425.1:c.1034A>T NP_001395354.1:p.Lys345Ile missense NM_001408426.1:c.1034A>T NP_001395355.1:p.Lys345Ile missense NM_001408427.1:c.1034A>T NP_001395356.1:p.Lys345Ile missense NM_001408428.1:c.1034A>T NP_001395357.1:p.Lys345Ile missense NM_001408429.1:c.1034A>T NP_001395358.1:p.Lys345Ile missense NM_001408430.1:c.1034A>T NP_001395359.1:p.Lys345Ile missense NM_001408431.1:c.1034A>T NP_001395360.1:p.Lys345Ile missense NM_001408432.1:c.1031A>T NP_001395361.1:p.Lys344Ile missense NM_001408433.1:c.1031A>T NP_001395362.1:p.Lys344Ile missense NM_001408434.1:c.1031A>T NP_001395363.1:p.Lys344Ile missense NM_001408435.1:c.1031A>T NP_001395364.1:p.Lys344Ile missense NM_001408436.1:c.1031A>T NP_001395365.1:p.Lys344Ile missense NM_001408437.1:c.1031A>T NP_001395366.1:p.Lys344Ile missense NM_001408438.1:c.1031A>T NP_001395367.1:p.Lys344Ile missense NM_001408439.1:c.1031A>T NP_001395368.1:p.Lys344Ile missense NM_001408440.1:c.1031A>T NP_001395369.1:p.Lys344Ile missense NM_001408441.1:c.1031A>T NP_001395370.1:p.Lys344Ile missense NM_001408442.1:c.1031A>T NP_001395371.1:p.Lys344Ile missense NM_001408443.1:c.1031A>T NP_001395372.1:p.Lys344Ile missense NM_001408444.1:c.1031A>T NP_001395373.1:p.Lys344Ile missense NM_001408445.1:c.1028A>T NP_001395374.1:p.Lys343Ile missense NM_001408446.1:c.1028A>T NP_001395375.1:p.Lys343Ile missense NM_001408447.1:c.1028A>T NP_001395376.1:p.Lys343Ile missense NM_001408448.1:c.1028A>T NP_001395377.1:p.Lys343Ile missense NM_001408450.1:c.1028A>T NP_001395379.1:p.Lys343Ile missense NM_001408451.1:c.1022A>T NP_001395380.1:p.Lys341Ile missense NM_001408452.1:c.1016A>T NP_001395381.1:p.Lys339Ile missense NM_001408453.1:c.1016A>T NP_001395382.1:p.Lys339Ile missense NM_001408454.1:c.1016A>T NP_001395383.1:p.Lys339Ile missense NM_001408455.1:c.1016A>T NP_001395384.1:p.Lys339Ile missense NM_001408456.1:c.1016A>T NP_001395385.1:p.Lys339Ile missense NM_001408457.1:c.1016A>T NP_001395386.1:p.Lys339Ile missense NM_001408458.1:c.1013A>T NP_001395387.1:p.Lys338Ile missense NM_001408459.1:c.1013A>T NP_001395388.1:p.Lys338Ile missense NM_001408460.1:c.1013A>T NP_001395389.1:p.Lys338Ile missense NM_001408461.1:c.1013A>T NP_001395390.1:p.Lys338Ile missense NM_001408462.1:c.1013A>T NP_001395391.1:p.Lys338Ile missense NM_001408463.1:c.1013A>T NP_001395392.1:p.Lys338Ile missense NM_001408464.1:c.1013A>T NP_001395393.1:p.Lys338Ile missense NM_001408465.1:c.1013A>T NP_001395394.1:p.Lys338Ile missense NM_001408466.1:c.1013A>T NP_001395395.1:p.Lys338Ile missense NM_001408467.1:c.1013A>T NP_001395396.1:p.Lys338Ile missense NM_001408468.1:c.1010A>T NP_001395397.1:p.Lys337Ile missense NM_001408469.1:c.1010A>T NP_001395398.1:p.Lys337Ile missense NM_001408470.1:c.1010A>T NP_001395399.1:p.Lys337Ile missense NM_001408472.1:c.1154A>T NP_001395401.1:p.Lys385Ile missense NM_001408473.1:c.1151A>T NP_001395402.1:p.Lys384Ile missense NM_001408474.1:c.956A>T NP_001395403.1:p.Lys319Ile missense NM_001408475.1:c.953A>T NP_001395404.1:p.Lys318Ile missense NM_001408476.1:c.953A>T NP_001395405.1:p.Lys318Ile missense NM_001408478.1:c.947A>T NP_001395407.1:p.Lys316Ile missense NM_001408479.1:c.947A>T NP_001395408.1:p.Lys316Ile missense NM_001408480.1:c.947A>T NP_001395409.1:p.Lys316Ile missense NM_001408481.1:c.944A>T NP_001395410.1:p.Lys315Ile missense NM_001408482.1:c.944A>T NP_001395411.1:p.Lys315Ile missense NM_001408483.1:c.944A>T NP_001395412.1:p.Lys315Ile missense NM_001408484.1:c.944A>T NP_001395413.1:p.Lys315Ile missense NM_001408485.1:c.944A>T NP_001395414.1:p.Lys315Ile missense NM_001408489.1:c.944A>T NP_001395418.1:p.Lys315Ile missense NM_001408490.1:c.944A>T NP_001395419.1:p.Lys315Ile missense NM_001408491.1:c.944A>T NP_001395420.1:p.Lys315Ile missense NM_001408492.1:c.941A>T NP_001395421.1:p.Lys314Ile missense NM_001408493.1:c.941A>T NP_001395422.1:p.Lys314Ile missense NM_001408494.1:c.917A>T NP_001395423.1:p.Lys306Ile missense NM_001408495.1:c.911A>T NP_001395424.1:p.Lys304Ile missense NM_001408496.1:c.893A>T NP_001395425.1:p.Lys298Ile missense NM_001408497.1:c.893A>T NP_001395426.1:p.Lys298Ile missense NM_001408498.1:c.893A>T NP_001395427.1:p.Lys298Ile missense NM_001408499.1:c.893A>T NP_001395428.1:p.Lys298Ile missense NM_001408500.1:c.893A>T NP_001395429.1:p.Lys298Ile missense NM_001408501.1:c.893A>T NP_001395430.1:p.Lys298Ile missense NM_001408502.1:c.890A>T NP_001395431.1:p.Lys297Ile missense NM_001408503.1:c.890A>T NP_001395432.1:p.Lys297Ile missense NM_001408504.1:c.890A>T NP_001395433.1:p.Lys297Ile missense NM_001408505.1:c.887A>T NP_001395434.1:p.Lys296Ile missense NM_001408506.1:c.830A>T NP_001395435.1:p.Lys277Ile missense NM_001408507.1:c.827A>T NP_001395436.1:p.Lys276Ile missense NM_001408508.1:c.818A>T NP_001395437.1:p.Lys273Ile missense NM_001408509.1:c.815A>T NP_001395438.1:p.Lys272Ile missense NM_001408510.1:c.776A>T NP_001395439.1:p.Lys259Ile missense NM_001408511.1:c.773A>T NP_001395440.1:p.Lys258Ile missense NM_001408512.1:c.653A>T NP_001395441.1:p.Lys218Ile missense NM_007297.4:c.4325A>T NP_009228.2:p.Lys1442Ile missense NM_007298.4:c.1154A>T NP_009229.2:p.Lys385Ile missense NM_007299.4:c.1154A>T NP_009230.2:p.Lys385Ile missense NM_007300.4:c.4529A>T NP_009231.2:p.Lys1510Ile missense NM_007304.2:c.1154A>T NP_009235.2:p.Lys385Ile missense NR_027676.2:n.4643A>T non-coding transcript variant NC_000017.11:g.43076506T>A NC_000017.10:g.41228523T>A NG_005905.2:g.141478A>T LRG_292:g.141478A>T LRG_292t1:c.4466A>T LRG_292p1:p.Lys1489Ile - Protein change
- K1489I, K1510I, K385I, K1442I, K1192I, K1193I, K1320I, K1399I, K1418I, K1419I, K1422I, K1469I, K1488I, K1509I, K258I, K259I, K296I, K315I, K339I, K341I, K343I, K346I, K361I, K383I, K384I, K408I, K620I, K1360I, K1378I, K1440I, K1470I, K1485I, K272I, K273I, K306I, K316I, K338I, K347I, K360I, K1361I, K1376I, K1401I, K1420I, K1441I, K1445I, K1446I, K1447I, K1461I, K1462I, K1486I, K1487I, K276I, K314I, K345I, K386I, K407I, K621I, K1362I, K1377I, K1400I, K1417I, K1448I, K1463I, K1484I, K1511I, K218I, K277I, K297I, K298I, K304I, K318I, K319I, K337I, K344I, K359I, K382I
- Other names
- -
- Canonical SPDI
- NC_000017.11:43076505:T:A
-
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 |
13040 | 14846 | |
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) |
criteria provided, single submitter
|
Jun 24, 2019 | RCV001223752.9 | |
| Uncertain significance (1) |
criteria provided, single submitter
|
Aug 18, 2023 | RCV001283903.3 |
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. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(Aug 18, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001469389.2
First in ClinVar: Jan 26, 2021 Last updated: Jan 06, 2024 |
Comment:
This variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). … (more)
This variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. (less)
|
|
|
Uncertain significance
(Jun 24, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001395914.5
First in ClinVar: Jul 16, 2020 Last updated: Feb 20, 2024 |
Comment:
This variant has not been reported in the literature in individuals with BRCA1-related conditions. In summary, the available evidence is currently insufficient to determine the … (more)
This variant has not been reported in the literature in individuals with BRCA1-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with isoleucine at codon 1489 of the BRCA1 protein (p.Lys1489Ile). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and isoleucine. (less)
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Comment:
Comment:
This variant has not been reported in the literature in individuals with BRCA1-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with isoleucine at codon 1489 of the BRCA1 protein (p.Lys1489Ile). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and isoleucine.
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. |
Comment:
This variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
Comment:
This variant has not been reported in the literature in individuals with BRCA1-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with isoleucine at codon 1489 of the BRCA1 protein (p.Lys1489Ile). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and isoleucine.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs587781880 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Sep 29, 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.