ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4377A>T (p.Lys1459Asn)
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
-
NM_007294.4(BRCA1):c.4377A>T (p.Lys1459Asn)
Variation ID: 952219 Accession: VCV000952219.9
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43076595 (GRCh38) [ NCBI UCSC ] 17: 41228612 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 14, 2024 May 16, 2022 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.4377A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys1459Asn missense NM_001407571.1:c.4164A>T NP_001394500.1:p.Lys1388Asn missense NM_001407581.1:c.4443A>T NP_001394510.1:p.Lys1481Asn missense NM_001407582.1:c.4443A>T NP_001394511.1:p.Lys1481Asn missense NM_001407583.1:c.4440A>T NP_001394512.1:p.Lys1480Asn missense NM_001407585.1:c.4440A>T NP_001394514.1:p.Lys1480Asn missense NM_001407587.1:c.4440A>T NP_001394516.1:p.Lys1480Asn missense NM_001407590.1:c.4437A>T NP_001394519.1:p.Lys1479Asn missense NM_001407591.1:c.4437A>T NP_001394520.1:p.Lys1479Asn missense NM_001407593.1:c.4377A>T NP_001394522.1:p.Lys1459Asn missense NM_001407594.1:c.4377A>T NP_001394523.1:p.Lys1459Asn missense NM_001407596.1:c.4377A>T NP_001394525.1:p.Lys1459Asn missense NM_001407597.1:c.4377A>T NP_001394526.1:p.Lys1459Asn missense NM_001407598.1:c.4377A>T NP_001394527.1:p.Lys1459Asn missense NM_001407602.1:c.4377A>T NP_001394531.1:p.Lys1459Asn missense NM_001407603.1:c.4377A>T NP_001394532.1:p.Lys1459Asn missense NM_001407605.1:c.4377A>T NP_001394534.1:p.Lys1459Asn missense NM_001407610.1:c.4374A>T NP_001394539.1:p.Lys1458Asn missense NM_001407611.1:c.4374A>T NP_001394540.1:p.Lys1458Asn missense NM_001407612.1:c.4374A>T NP_001394541.1:p.Lys1458Asn missense NM_001407613.1:c.4374A>T NP_001394542.1:p.Lys1458Asn missense NM_001407614.1:c.4374A>T NP_001394543.1:p.Lys1458Asn missense NM_001407615.1:c.4374A>T NP_001394544.1:p.Lys1458Asn missense NM_001407616.1:c.4374A>T NP_001394545.1:p.Lys1458Asn missense NM_001407617.1:c.4374A>T NP_001394546.1:p.Lys1458Asn missense NM_001407618.1:c.4374A>T NP_001394547.1:p.Lys1458Asn missense NM_001407619.1:c.4374A>T NP_001394548.1:p.Lys1458Asn missense NM_001407620.1:c.4374A>T NP_001394549.1:p.Lys1458Asn missense NM_001407621.1:c.4374A>T NP_001394550.1:p.Lys1458Asn missense NM_001407622.1:c.4374A>T NP_001394551.1:p.Lys1458Asn missense NM_001407623.1:c.4374A>T NP_001394552.1:p.Lys1458Asn missense NM_001407624.1:c.4374A>T NP_001394553.1:p.Lys1458Asn missense NM_001407625.1:c.4374A>T NP_001394554.1:p.Lys1458Asn missense NM_001407626.1:c.4374A>T NP_001394555.1:p.Lys1458Asn missense NM_001407627.1:c.4371A>T NP_001394556.1:p.Lys1457Asn missense NM_001407628.1:c.4371A>T NP_001394557.1:p.Lys1457Asn missense NM_001407629.1:c.4371A>T NP_001394558.1:p.Lys1457Asn missense NM_001407630.1:c.4371A>T NP_001394559.1:p.Lys1457Asn missense NM_001407631.1:c.4371A>T NP_001394560.1:p.Lys1457Asn missense NM_001407632.1:c.4371A>T NP_001394561.1:p.Lys1457Asn missense NM_001407633.1:c.4371A>T NP_001394562.1:p.Lys1457Asn missense NM_001407634.1:c.4371A>T NP_001394563.1:p.Lys1457Asn missense NM_001407635.1:c.4371A>T NP_001394564.1:p.Lys1457Asn missense NM_001407636.1:c.4371A>T NP_001394565.1:p.Lys1457Asn missense NM_001407637.1:c.4371A>T NP_001394566.1:p.Lys1457Asn missense NM_001407638.1:c.4371A>T NP_001394567.1:p.Lys1457Asn missense NM_001407639.1:c.4371A>T NP_001394568.1:p.Lys1457Asn missense NM_001407640.1:c.4371A>T NP_001394569.1:p.Lys1457Asn missense NM_001407641.1:c.4371A>T NP_001394570.1:p.Lys1457Asn missense NM_001407642.1:c.4371A>T NP_001394571.1:p.Lys1457Asn missense NM_001407644.1:c.4368A>T NP_001394573.1:p.Lys1456Asn missense NM_001407645.1:c.4368A>T NP_001394574.1:p.Lys1456Asn missense NM_001407646.1:c.4365A>T NP_001394575.1:p.Lys1455Asn missense NM_001407647.1:c.4362A>T NP_001394576.1:p.Lys1454Asn missense NM_001407648.1:c.4320A>T NP_001394577.1:p.Lys1440Asn missense NM_001407649.1:c.4317A>T NP_001394578.1:p.Lys1439Asn missense NM_001407652.1:c.4377A>T NP_001394581.1:p.Lys1459Asn missense NM_001407653.1:c.4299A>T NP_001394582.1:p.Lys1433Asn missense NM_001407654.1:c.4299A>T NP_001394583.1:p.Lys1433Asn missense NM_001407655.1:c.4299A>T NP_001394584.1:p.Lys1433Asn missense NM_001407656.1:c.4296A>T NP_001394585.1:p.Lys1432Asn missense NM_001407657.1:c.4296A>T NP_001394586.1:p.Lys1432Asn missense NM_001407658.1:c.4296A>T NP_001394587.1:p.Lys1432Asn missense NM_001407659.1:c.4293A>T NP_001394588.1:p.Lys1431Asn missense NM_001407660.1:c.4293A>T NP_001394589.1:p.Lys1431Asn missense NM_001407661.1:c.4293A>T NP_001394590.1:p.Lys1431Asn missense NM_001407662.1:c.4293A>T NP_001394591.1:p.Lys1431Asn missense NM_001407663.1:c.4293A>T NP_001394592.1:p.Lys1431Asn missense NM_001407664.1:c.4254A>T NP_001394593.1:p.Lys1418Asn missense NM_001407665.1:c.4254A>T NP_001394594.1:p.Lys1418Asn missense NM_001407666.1:c.4254A>T NP_001394595.1:p.Lys1418Asn missense NM_001407667.1:c.4254A>T NP_001394596.1:p.Lys1418Asn missense NM_001407668.1:c.4254A>T NP_001394597.1:p.Lys1418Asn missense NM_001407669.1:c.4254A>T NP_001394598.1:p.Lys1418Asn missense NM_001407670.1:c.4251A>T NP_001394599.1:p.Lys1417Asn missense NM_001407671.1:c.4251A>T NP_001394600.1:p.Lys1417Asn missense NM_001407672.1:c.4251A>T NP_001394601.1:p.Lys1417Asn missense NM_001407673.1:c.4251A>T NP_001394602.1:p.Lys1417Asn missense NM_001407674.1:c.4251A>T NP_001394603.1:p.Lys1417Asn missense NM_001407675.1:c.4251A>T NP_001394604.1:p.Lys1417Asn missense NM_001407676.1:c.4251A>T NP_001394605.1:p.Lys1417Asn missense NM_001407677.1:c.4251A>T NP_001394606.1:p.Lys1417Asn missense NM_001407678.1:c.4251A>T NP_001394607.1:p.Lys1417Asn missense NM_001407679.1:c.4251A>T NP_001394608.1:p.Lys1417Asn missense NM_001407680.1:c.4251A>T NP_001394609.1:p.Lys1417Asn missense NM_001407681.1:c.4248A>T NP_001394610.1:p.Lys1416Asn missense NM_001407682.1:c.4248A>T NP_001394611.1:p.Lys1416Asn missense NM_001407683.1:c.4248A>T NP_001394612.1:p.Lys1416Asn missense NM_001407684.1:c.4377A>T NP_001394613.1:p.Lys1459Asn missense NM_001407685.1:c.4248A>T NP_001394614.1:p.Lys1416Asn missense NM_001407686.1:c.4248A>T NP_001394615.1:p.Lys1416Asn missense NM_001407687.1:c.4248A>T NP_001394616.1:p.Lys1416Asn missense NM_001407688.1:c.4248A>T NP_001394617.1:p.Lys1416Asn missense NM_001407689.1:c.4248A>T NP_001394618.1:p.Lys1416Asn missense NM_001407690.1:c.4245A>T NP_001394619.1:p.Lys1415Asn missense NM_001407691.1:c.4245A>T NP_001394620.1:p.Lys1415Asn missense NM_001407692.1:c.4236A>T NP_001394621.1:p.Lys1412Asn missense NM_001407694.1:c.4236A>T NP_001394623.1:p.Lys1412Asn missense NM_001407695.1:c.4236A>T NP_001394624.1:p.Lys1412Asn missense NM_001407696.1:c.4236A>T NP_001394625.1:p.Lys1412Asn missense NM_001407697.1:c.4236A>T NP_001394626.1:p.Lys1412Asn missense NM_001407698.1:c.4236A>T NP_001394627.1:p.Lys1412Asn missense NM_001407724.1:c.4236A>T NP_001394653.1:p.Lys1412Asn missense NM_001407725.1:c.4236A>T NP_001394654.1:p.Lys1412Asn missense NM_001407726.1:c.4236A>T NP_001394655.1:p.Lys1412Asn missense NM_001407727.1:c.4236A>T NP_001394656.1:p.Lys1412Asn missense NM_001407728.1:c.4236A>T NP_001394657.1:p.Lys1412Asn missense NM_001407729.1:c.4236A>T NP_001394658.1:p.Lys1412Asn missense NM_001407730.1:c.4236A>T NP_001394659.1:p.Lys1412Asn missense NM_001407731.1:c.4236A>T NP_001394660.1:p.Lys1412Asn missense NM_001407732.1:c.4233A>T NP_001394661.1:p.Lys1411Asn missense NM_001407733.1:c.4233A>T NP_001394662.1:p.Lys1411Asn missense NM_001407734.1:c.4233A>T NP_001394663.1:p.Lys1411Asn missense NM_001407735.1:c.4233A>T NP_001394664.1:p.Lys1411Asn missense NM_001407736.1:c.4233A>T NP_001394665.1:p.Lys1411Asn missense NM_001407737.1:c.4233A>T NP_001394666.1:p.Lys1411Asn missense NM_001407738.1:c.4233A>T NP_001394667.1:p.Lys1411Asn missense NM_001407739.1:c.4233A>T NP_001394668.1:p.Lys1411Asn missense NM_001407740.1:c.4233A>T NP_001394669.1:p.Lys1411Asn missense NM_001407741.1:c.4233A>T NP_001394670.1:p.Lys1411Asn missense NM_001407742.1:c.4233A>T NP_001394671.1:p.Lys1411Asn missense NM_001407743.1:c.4233A>T NP_001394672.1:p.Lys1411Asn missense NM_001407744.1:c.4233A>T NP_001394673.1:p.Lys1411Asn missense NM_001407745.1:c.4233A>T NP_001394674.1:p.Lys1411Asn missense NM_001407746.1:c.4233A>T NP_001394675.1:p.Lys1411Asn missense NM_001407747.1:c.4233A>T NP_001394676.1:p.Lys1411Asn missense NM_001407748.1:c.4233A>T NP_001394677.1:p.Lys1411Asn missense NM_001407749.1:c.4233A>T NP_001394678.1:p.Lys1411Asn missense NM_001407750.1:c.4233A>T NP_001394679.1:p.Lys1411Asn missense NM_001407751.1:c.4233A>T NP_001394680.1:p.Lys1411Asn missense NM_001407752.1:c.4233A>T NP_001394681.1:p.Lys1411Asn missense NM_001407838.1:c.4230A>T NP_001394767.1:p.Lys1410Asn missense NM_001407839.1:c.4230A>T NP_001394768.1:p.Lys1410Asn missense NM_001407841.1:c.4230A>T NP_001394770.1:p.Lys1410Asn missense NM_001407842.1:c.4230A>T NP_001394771.1:p.Lys1410Asn missense NM_001407843.1:c.4230A>T NP_001394772.1:p.Lys1410Asn missense NM_001407844.1:c.4230A>T NP_001394773.1:p.Lys1410Asn missense NM_001407845.1:c.4230A>T NP_001394774.1:p.Lys1410Asn missense NM_001407846.1:c.4230A>T NP_001394775.1:p.Lys1410Asn missense NM_001407847.1:c.4230A>T NP_001394776.1:p.Lys1410Asn missense NM_001407848.1:c.4230A>T NP_001394777.1:p.Lys1410Asn missense NM_001407849.1:c.4230A>T NP_001394778.1:p.Lys1410Asn missense NM_001407850.1:c.4230A>T NP_001394779.1:p.Lys1410Asn missense NM_001407851.1:c.4230A>T NP_001394780.1:p.Lys1410Asn missense NM_001407852.1:c.4230A>T NP_001394781.1:p.Lys1410Asn missense NM_001407853.1:c.4230A>T NP_001394782.1:p.Lys1410Asn missense NM_001407854.1:c.4377A>T NP_001394783.1:p.Lys1459Asn missense NM_001407858.1:c.4374A>T NP_001394787.1:p.Lys1458Asn missense NM_001407859.1:c.4374A>T NP_001394788.1:p.Lys1458Asn missense NM_001407860.1:c.4374A>T NP_001394789.1:p.Lys1458Asn missense NM_001407861.1:c.4371A>T NP_001394790.1:p.Lys1457Asn missense NM_001407862.1:c.4176A>T NP_001394791.1:p.Lys1392Asn missense NM_001407863.1:c.4251A>T NP_001394792.1:p.Lys1417Asn missense NM_001407874.1:c.4170A>T NP_001394803.1:p.Lys1390Asn missense NM_001407875.1:c.4170A>T NP_001394804.1:p.Lys1390Asn missense NM_001407879.1:c.4167A>T NP_001394808.1:p.Lys1389Asn missense NM_001407881.1:c.4167A>T NP_001394810.1:p.Lys1389Asn missense NM_001407882.1:c.4167A>T NP_001394811.1:p.Lys1389Asn missense NM_001407884.1:c.4167A>T NP_001394813.1:p.Lys1389Asn missense NM_001407885.1:c.4167A>T NP_001394814.1:p.Lys1389Asn missense NM_001407886.1:c.4167A>T NP_001394815.1:p.Lys1389Asn missense NM_001407887.1:c.4167A>T NP_001394816.1:p.Lys1389Asn missense NM_001407889.1:c.4167A>T NP_001394818.1:p.Lys1389Asn missense NM_001407894.1:c.4164A>T NP_001394823.1:p.Lys1388Asn missense NM_001407895.1:c.4164A>T NP_001394824.1:p.Lys1388Asn missense NM_001407896.1:c.4164A>T NP_001394825.1:p.Lys1388Asn missense NM_001407897.1:c.4164A>T NP_001394826.1:p.Lys1388Asn missense NM_001407898.1:c.4164A>T NP_001394827.1:p.Lys1388Asn missense NM_001407899.1:c.4164A>T NP_001394828.1:p.Lys1388Asn missense NM_001407900.1:c.4164A>T NP_001394829.1:p.Lys1388Asn missense NM_001407902.1:c.4164A>T NP_001394831.1:p.Lys1388Asn missense NM_001407904.1:c.4164A>T NP_001394833.1:p.Lys1388Asn missense NM_001407906.1:c.4164A>T NP_001394835.1:p.Lys1388Asn missense NM_001407907.1:c.4164A>T NP_001394836.1:p.Lys1388Asn missense NM_001407908.1:c.4164A>T NP_001394837.1:p.Lys1388Asn missense NM_001407909.1:c.4164A>T NP_001394838.1:p.Lys1388Asn missense NM_001407910.1:c.4164A>T NP_001394839.1:p.Lys1388Asn missense NM_001407915.1:c.4161A>T NP_001394844.1:p.Lys1387Asn missense NM_001407916.1:c.4161A>T NP_001394845.1:p.Lys1387Asn missense NM_001407917.1:c.4161A>T NP_001394846.1:p.Lys1387Asn missense NM_001407918.1:c.4161A>T NP_001394847.1:p.Lys1387Asn missense NM_001407919.1:c.4254A>T NP_001394848.1:p.Lys1418Asn missense NM_001407920.1:c.4113A>T NP_001394849.1:p.Lys1371Asn missense NM_001407921.1:c.4113A>T NP_001394850.1:p.Lys1371Asn missense NM_001407922.1:c.4113A>T NP_001394851.1:p.Lys1371Asn missense NM_001407923.1:c.4113A>T NP_001394852.1:p.Lys1371Asn missense NM_001407924.1:c.4113A>T NP_001394853.1:p.Lys1371Asn missense NM_001407925.1:c.4113A>T NP_001394854.1:p.Lys1371Asn missense NM_001407926.1:c.4113A>T NP_001394855.1:p.Lys1371Asn missense NM_001407927.1:c.4110A>T NP_001394856.1:p.Lys1370Asn missense NM_001407928.1:c.4110A>T NP_001394857.1:p.Lys1370Asn missense NM_001407929.1:c.4110A>T NP_001394858.1:p.Lys1370Asn missense NM_001407930.1:c.4110A>T NP_001394859.1:p.Lys1370Asn missense NM_001407931.1:c.4110A>T NP_001394860.1:p.Lys1370Asn missense NM_001407932.1:c.4110A>T NP_001394861.1:p.Lys1370Asn missense NM_001407933.1:c.4110A>T NP_001394862.1:p.Lys1370Asn missense NM_001407934.1:c.4107A>T NP_001394863.1:p.Lys1369Asn missense NM_001407935.1:c.4107A>T NP_001394864.1:p.Lys1369Asn missense NM_001407936.1:c.4107A>T NP_001394865.1:p.Lys1369Asn missense NM_001407937.1:c.4254A>T NP_001394866.1:p.Lys1418Asn missense NM_001407938.1:c.4254A>T NP_001394867.1:p.Lys1418Asn missense NM_001407939.1:c.4251A>T NP_001394868.1:p.Lys1417Asn missense NM_001407940.1:c.4251A>T NP_001394869.1:p.Lys1417Asn missense NM_001407941.1:c.4248A>T NP_001394870.1:p.Lys1416Asn missense NM_001407942.1:c.4236A>T NP_001394871.1:p.Lys1412Asn missense NM_001407943.1:c.4233A>T NP_001394872.1:p.Lys1411Asn missense NM_001407944.1:c.4233A>T NP_001394873.1:p.Lys1411Asn missense NM_001407945.1:c.4233A>T NP_001394874.1:p.Lys1411Asn missense NM_001407946.1:c.4044A>T NP_001394875.1:p.Lys1348Asn missense NM_001407947.1:c.4044A>T NP_001394876.1:p.Lys1348Asn missense NM_001407948.1:c.4044A>T NP_001394877.1:p.Lys1348Asn missense NM_001407949.1:c.4044A>T NP_001394878.1:p.Lys1348Asn missense NM_001407950.1:c.4041A>T NP_001394879.1:p.Lys1347Asn missense NM_001407951.1:c.4041A>T NP_001394880.1:p.Lys1347Asn missense NM_001407952.1:c.4041A>T NP_001394881.1:p.Lys1347Asn missense NM_001407953.1:c.4041A>T NP_001394882.1:p.Lys1347Asn missense NM_001407954.1:c.4041A>T NP_001394883.1:p.Lys1347Asn missense NM_001407955.1:c.4041A>T NP_001394884.1:p.Lys1347Asn missense NM_001407956.1:c.4038A>T NP_001394885.1:p.Lys1346Asn missense NM_001407957.1:c.4038A>T NP_001394886.1:p.Lys1346Asn missense NM_001407958.1:c.4038A>T NP_001394887.1:p.Lys1346Asn missense NM_001407959.1:c.3996A>T NP_001394888.1:p.Lys1332Asn missense NM_001407960.1:c.3993A>T NP_001394889.1:p.Lys1331Asn missense NM_001407962.1:c.3993A>T NP_001394891.1:p.Lys1331Asn missense NM_001407963.1:c.3990A>T NP_001394892.1:p.Lys1330Asn missense NM_001407965.1:c.3870A>T NP_001394894.1:p.Lys1290Asn missense NM_001407966.1:c.3489A>T NP_001394895.1:p.Lys1163Asn missense NM_001407967.1:c.3486A>T NP_001394896.1:p.Lys1162Asn missense NM_001407968.1:c.1773A>T NP_001394897.1:p.Lys591Asn missense NM_001407969.1:c.1770A>T NP_001394898.1:p.Lys590Asn missense NM_001407970.1:c.1134A>T NP_001394899.1:p.Lys378Asn missense NM_001407971.1:c.1134A>T NP_001394900.1:p.Lys378Asn missense NM_001407972.1:c.1131A>T NP_001394901.1:p.Lys377Asn missense NM_001407973.1:c.1068A>T NP_001394902.1:p.Lys356Asn missense NM_001407974.1:c.1068A>T NP_001394903.1:p.Lys356Asn missense NM_001407975.1:c.1068A>T NP_001394904.1:p.Lys356Asn missense NM_001407976.1:c.1068A>T NP_001394905.1:p.Lys356Asn missense NM_001407977.1:c.1068A>T NP_001394906.1:p.Lys356Asn missense NM_001407978.1:c.1068A>T NP_001394907.1:p.Lys356Asn missense NM_001407979.1:c.1065A>T NP_001394908.1:p.Lys355Asn missense NM_001407980.1:c.1065A>T NP_001394909.1:p.Lys355Asn missense NM_001407981.1:c.1065A>T NP_001394910.1:p.Lys355Asn missense NM_001407982.1:c.1065A>T NP_001394911.1:p.Lys355Asn missense NM_001407983.1:c.1065A>T NP_001394912.1:p.Lys355Asn missense NM_001407984.1:c.1065A>T NP_001394913.1:p.Lys355Asn missense NM_001407985.1:c.1065A>T NP_001394914.1:p.Lys355Asn missense NM_001407986.1:c.1065A>T NP_001394915.1:p.Lys355Asn missense NM_001407990.1:c.1065A>T NP_001394919.1:p.Lys355Asn missense NM_001407991.1:c.1065A>T NP_001394920.1:p.Lys355Asn missense NM_001407992.1:c.1065A>T NP_001394921.1:p.Lys355Asn missense NM_001407993.1:c.1065A>T NP_001394922.1:p.Lys355Asn missense NM_001408392.1:c.1062A>T NP_001395321.1:p.Lys354Asn missense NM_001408396.1:c.1062A>T NP_001395325.1:p.Lys354Asn missense NM_001408397.1:c.1062A>T NP_001395326.1:p.Lys354Asn missense NM_001408398.1:c.1062A>T NP_001395327.1:p.Lys354Asn missense NM_001408399.1:c.1062A>T NP_001395328.1:p.Lys354Asn missense NM_001408400.1:c.1062A>T NP_001395329.1:p.Lys354Asn missense NM_001408401.1:c.1062A>T NP_001395330.1:p.Lys354Asn missense NM_001408402.1:c.1062A>T NP_001395331.1:p.Lys354Asn missense NM_001408403.1:c.1062A>T NP_001395332.1:p.Lys354Asn missense NM_001408404.1:c.1062A>T NP_001395333.1:p.Lys354Asn missense NM_001408406.1:c.1059A>T NP_001395335.1:p.Lys353Asn missense NM_001408407.1:c.1059A>T NP_001395336.1:p.Lys353Asn missense NM_001408408.1:c.1059A>T NP_001395337.1:p.Lys353Asn missense NM_001408409.1:c.1056A>T NP_001395338.1:p.Lys352Asn missense NM_001408410.1:c.993A>T NP_001395339.1:p.Lys331Asn missense NM_001408411.1:c.990A>T NP_001395340.1:p.Lys330Asn missense NM_001408412.1:c.987A>T NP_001395341.1:p.Lys329Asn missense NM_001408413.1:c.987A>T NP_001395342.1:p.Lys329Asn missense NM_001408414.1:c.987A>T NP_001395343.1:p.Lys329Asn missense NM_001408415.1:c.987A>T NP_001395344.1:p.Lys329Asn missense NM_001408416.1:c.987A>T NP_001395345.1:p.Lys329Asn missense NM_001408418.1:c.951A>T NP_001395347.1:p.Lys317Asn missense NM_001408419.1:c.951A>T NP_001395348.1:p.Lys317Asn missense NM_001408420.1:c.951A>T NP_001395349.1:p.Lys317Asn missense NM_001408421.1:c.948A>T NP_001395350.1:p.Lys316Asn missense NM_001408422.1:c.948A>T NP_001395351.1:p.Lys316Asn missense NM_001408423.1:c.948A>T NP_001395352.1:p.Lys316Asn missense NM_001408424.1:c.948A>T NP_001395353.1:p.Lys316Asn missense NM_001408425.1:c.945A>T NP_001395354.1:p.Lys315Asn missense NM_001408426.1:c.945A>T NP_001395355.1:p.Lys315Asn missense NM_001408427.1:c.945A>T NP_001395356.1:p.Lys315Asn missense NM_001408428.1:c.945A>T NP_001395357.1:p.Lys315Asn missense NM_001408429.1:c.945A>T NP_001395358.1:p.Lys315Asn missense NM_001408430.1:c.945A>T NP_001395359.1:p.Lys315Asn missense NM_001408431.1:c.945A>T NP_001395360.1:p.Lys315Asn missense NM_001408432.1:c.942A>T NP_001395361.1:p.Lys314Asn missense NM_001408433.1:c.942A>T NP_001395362.1:p.Lys314Asn missense NM_001408434.1:c.942A>T NP_001395363.1:p.Lys314Asn missense NM_001408435.1:c.942A>T NP_001395364.1:p.Lys314Asn missense NM_001408436.1:c.942A>T NP_001395365.1:p.Lys314Asn missense NM_001408437.1:c.942A>T NP_001395366.1:p.Lys314Asn missense NM_001408438.1:c.942A>T NP_001395367.1:p.Lys314Asn missense NM_001408439.1:c.942A>T NP_001395368.1:p.Lys314Asn missense NM_001408440.1:c.942A>T NP_001395369.1:p.Lys314Asn missense NM_001408441.1:c.942A>T NP_001395370.1:p.Lys314Asn missense NM_001408442.1:c.942A>T NP_001395371.1:p.Lys314Asn missense NM_001408443.1:c.942A>T NP_001395372.1:p.Lys314Asn missense NM_001408444.1:c.942A>T NP_001395373.1:p.Lys314Asn missense NM_001408445.1:c.939A>T NP_001395374.1:p.Lys313Asn missense NM_001408446.1:c.939A>T NP_001395375.1:p.Lys313Asn missense NM_001408447.1:c.939A>T NP_001395376.1:p.Lys313Asn missense NM_001408448.1:c.939A>T NP_001395377.1:p.Lys313Asn missense NM_001408450.1:c.939A>T NP_001395379.1:p.Lys313Asn missense NM_001408451.1:c.933A>T NP_001395380.1:p.Lys311Asn missense NM_001408452.1:c.927A>T NP_001395381.1:p.Lys309Asn missense NM_001408453.1:c.927A>T NP_001395382.1:p.Lys309Asn missense NM_001408454.1:c.927A>T NP_001395383.1:p.Lys309Asn missense NM_001408455.1:c.927A>T NP_001395384.1:p.Lys309Asn missense NM_001408456.1:c.927A>T NP_001395385.1:p.Lys309Asn missense NM_001408457.1:c.927A>T NP_001395386.1:p.Lys309Asn missense NM_001408458.1:c.924A>T NP_001395387.1:p.Lys308Asn missense NM_001408459.1:c.924A>T NP_001395388.1:p.Lys308Asn missense NM_001408460.1:c.924A>T NP_001395389.1:p.Lys308Asn missense NM_001408461.1:c.924A>T NP_001395390.1:p.Lys308Asn missense NM_001408462.1:c.924A>T NP_001395391.1:p.Lys308Asn missense NM_001408463.1:c.924A>T NP_001395392.1:p.Lys308Asn missense NM_001408464.1:c.924A>T NP_001395393.1:p.Lys308Asn missense NM_001408465.1:c.924A>T NP_001395394.1:p.Lys308Asn missense NM_001408466.1:c.924A>T NP_001395395.1:p.Lys308Asn missense NM_001408467.1:c.924A>T NP_001395396.1:p.Lys308Asn missense NM_001408468.1:c.921A>T NP_001395397.1:p.Lys307Asn missense NM_001408469.1:c.921A>T NP_001395398.1:p.Lys307Asn missense NM_001408470.1:c.921A>T NP_001395399.1:p.Lys307Asn missense NM_001408472.1:c.1065A>T NP_001395401.1:p.Lys355Asn missense NM_001408473.1:c.1062A>T NP_001395402.1:p.Lys354Asn missense NM_001408474.1:c.867A>T NP_001395403.1:p.Lys289Asn missense NM_001408475.1:c.864A>T NP_001395404.1:p.Lys288Asn missense NM_001408476.1:c.864A>T NP_001395405.1:p.Lys288Asn missense NM_001408478.1:c.858A>T NP_001395407.1:p.Lys286Asn missense NM_001408479.1:c.858A>T NP_001395408.1:p.Lys286Asn missense NM_001408480.1:c.858A>T NP_001395409.1:p.Lys286Asn missense NM_001408481.1:c.855A>T NP_001395410.1:p.Lys285Asn missense NM_001408482.1:c.855A>T NP_001395411.1:p.Lys285Asn missense NM_001408483.1:c.855A>T NP_001395412.1:p.Lys285Asn missense NM_001408484.1:c.855A>T NP_001395413.1:p.Lys285Asn missense NM_001408485.1:c.855A>T NP_001395414.1:p.Lys285Asn missense NM_001408489.1:c.855A>T NP_001395418.1:p.Lys285Asn missense NM_001408490.1:c.855A>T NP_001395419.1:p.Lys285Asn missense NM_001408491.1:c.855A>T NP_001395420.1:p.Lys285Asn missense NM_001408492.1:c.852A>T NP_001395421.1:p.Lys284Asn missense NM_001408493.1:c.852A>T NP_001395422.1:p.Lys284Asn missense NM_001408494.1:c.828A>T NP_001395423.1:p.Lys276Asn missense NM_001408495.1:c.822A>T NP_001395424.1:p.Lys274Asn missense NM_001408496.1:c.804A>T NP_001395425.1:p.Lys268Asn missense NM_001408497.1:c.804A>T NP_001395426.1:p.Lys268Asn missense NM_001408498.1:c.804A>T NP_001395427.1:p.Lys268Asn missense NM_001408499.1:c.804A>T NP_001395428.1:p.Lys268Asn missense NM_001408500.1:c.804A>T NP_001395429.1:p.Lys268Asn missense NM_001408501.1:c.804A>T NP_001395430.1:p.Lys268Asn missense NM_001408502.1:c.801A>T NP_001395431.1:p.Lys267Asn missense NM_001408503.1:c.801A>T NP_001395432.1:p.Lys267Asn missense NM_001408504.1:c.801A>T NP_001395433.1:p.Lys267Asn missense NM_001408505.1:c.798A>T NP_001395434.1:p.Lys266Asn missense NM_001408506.1:c.741A>T NP_001395435.1:p.Lys247Asn missense NM_001408507.1:c.738A>T NP_001395436.1:p.Lys246Asn missense NM_001408508.1:c.729A>T NP_001395437.1:p.Lys243Asn missense NM_001408509.1:c.726A>T NP_001395438.1:p.Lys242Asn missense NM_001408510.1:c.687A>T NP_001395439.1:p.Lys229Asn missense NM_001408511.1:c.684A>T NP_001395440.1:p.Lys228Asn missense NM_001408512.1:c.564A>T NP_001395441.1:p.Lys188Asn missense NM_007297.4:c.4236A>T NP_009228.2:p.Lys1412Asn missense NM_007298.4:c.1065A>T NP_009229.2:p.Lys355Asn missense NM_007299.4:c.1065A>T NP_009230.2:p.Lys355Asn missense NM_007300.4:c.4440A>T NP_009231.2:p.Lys1480Asn missense NM_007304.2:c.1065A>T NP_009235.2:p.Lys355Asn missense NR_027676.2:n.4554A>T non-coding transcript variant NC_000017.11:g.43076595T>A NC_000017.10:g.41228612T>A NG_005905.2:g.141389A>T LRG_292:g.141389A>T LRG_292t1:c.4377A>T LRG_292p1:p.Lys1459Asn - Protein change
- K1459N, K1480N, K1412N, K355N, K1290N, K1330N, K1347N, K1348N, K1369N, K1370N, K1371N, K1389N, K1418N, K1439N, K1456N, K188N, K242N, K243N, K246N, K267N, K284N, K286N, K289N, K316N, K317N, K329N, K352N, K356N, K590N, K1163N, K1331N, K1332N, K1390N, K1415N, K1433N, K1479N, K229N, K247N, K288N, K308N, K309N, K315N, K330N, K353N, K377N, K1387N, K1410N, K1411N, K1416N, K1431N, K1432N, K1454N, K1455N, K1458N, K228N, K266N, K274N, K276N, K285N, K307N, K313N, K354N, K378N, K591N, K1162N, K1346N, K1388N, K1392N, K1417N, K1440N, K1457N, K1481N, K268N, K311N, K314N, K331N
- Other names
- -
- Canonical SPDI
- NC_000017.11:43076594: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 |
12876 | 14661 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Uncertain significance (1) |
criteria provided, single submitter
|
Aug 24, 2021 | RCV001224284.6 | |
Uncertain significance (1) |
criteria provided, single submitter
|
May 16, 2022 | RCV003584860.1 |
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 24, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001396472.4
First in ClinVar: Jul 16, 2020 Last updated: Feb 07, 2023 |
Comment:
This sequence change replaces lysine with asparagine at codon 1459 of the BRCA1 protein (p.Lys1459Asn). The lysine residue is moderately conserved and there is a … (more)
This sequence change replaces lysine with asparagine at codon 1459 of the BRCA1 protein (p.Lys1459Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
|
|
Uncertain significance
(May 16, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV004360182.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces lysine with asparagine at codon 1459 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure … (more)
This missense variant replaces lysine with asparagine at codon 1459 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
|
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
HelpThere 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 rs2052743174 ...
HelpRecord last updated Feb 20, 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.