This sequence change replaces asparagine with aspartic acid at codon 1519 of the BRCA1 protein (p.Asn1519Asp). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. 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 aspartic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4555A>G (p.Asn1519Asp)
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.4555A>G (p.Asn1519Asp)
Variation ID: 571121 Accession: VCV000571121.9
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43074451 (GRCh38) [ NCBI UCSC ] 17: 41226468 (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 Oct 10, 2018 Jun 17, 2024 Mar 15, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4555A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asn1519Asp missense NM_001407571.1:c.4342A>G NP_001394500.1:p.Asn1448Asp missense NM_001407581.1:c.4621A>G NP_001394510.1:p.Asn1541Asp missense NM_001407582.1:c.4621A>G NP_001394511.1:p.Asn1541Asp missense NM_001407583.1:c.4618A>G NP_001394512.1:p.Asn1540Asp missense NM_001407585.1:c.4618A>G NP_001394514.1:p.Asn1540Asp missense NM_001407587.1:c.4618A>G NP_001394516.1:p.Asn1540Asp missense NM_001407590.1:c.4615A>G NP_001394519.1:p.Asn1539Asp missense NM_001407591.1:c.4615A>G NP_001394520.1:p.Asn1539Asp missense NM_001407593.1:c.4555A>G NP_001394522.1:p.Asn1519Asp missense NM_001407594.1:c.4555A>G NP_001394523.1:p.Asn1519Asp missense NM_001407596.1:c.4555A>G NP_001394525.1:p.Asn1519Asp missense NM_001407597.1:c.4555A>G NP_001394526.1:p.Asn1519Asp missense NM_001407598.1:c.4555A>G NP_001394527.1:p.Asn1519Asp missense NM_001407602.1:c.4555A>G NP_001394531.1:p.Asn1519Asp missense NM_001407603.1:c.4555A>G NP_001394532.1:p.Asn1519Asp missense NM_001407605.1:c.4555A>G NP_001394534.1:p.Asn1519Asp missense NM_001407610.1:c.4552A>G NP_001394539.1:p.Asn1518Asp missense NM_001407611.1:c.4552A>G NP_001394540.1:p.Asn1518Asp missense NM_001407612.1:c.4552A>G NP_001394541.1:p.Asn1518Asp missense NM_001407613.1:c.4552A>G NP_001394542.1:p.Asn1518Asp missense NM_001407614.1:c.4552A>G NP_001394543.1:p.Asn1518Asp missense NM_001407615.1:c.4552A>G NP_001394544.1:p.Asn1518Asp missense NM_001407616.1:c.4552A>G NP_001394545.1:p.Asn1518Asp missense NM_001407617.1:c.4552A>G NP_001394546.1:p.Asn1518Asp missense NM_001407618.1:c.4552A>G NP_001394547.1:p.Asn1518Asp missense NM_001407619.1:c.4552A>G NP_001394548.1:p.Asn1518Asp missense NM_001407620.1:c.4552A>G NP_001394549.1:p.Asn1518Asp missense NM_001407621.1:c.4552A>G NP_001394550.1:p.Asn1518Asp missense NM_001407622.1:c.4552A>G NP_001394551.1:p.Asn1518Asp missense NM_001407623.1:c.4552A>G NP_001394552.1:p.Asn1518Asp missense NM_001407624.1:c.4552A>G NP_001394553.1:p.Asn1518Asp missense NM_001407625.1:c.4552A>G NP_001394554.1:p.Asn1518Asp missense NM_001407626.1:c.4552A>G NP_001394555.1:p.Asn1518Asp missense NM_001407627.1:c.4549A>G NP_001394556.1:p.Asn1517Asp missense NM_001407628.1:c.4549A>G NP_001394557.1:p.Asn1517Asp missense NM_001407629.1:c.4549A>G NP_001394558.1:p.Asn1517Asp missense NM_001407630.1:c.4549A>G NP_001394559.1:p.Asn1517Asp missense NM_001407631.1:c.4549A>G NP_001394560.1:p.Asn1517Asp missense NM_001407632.1:c.4549A>G NP_001394561.1:p.Asn1517Asp missense NM_001407633.1:c.4549A>G NP_001394562.1:p.Asn1517Asp missense NM_001407634.1:c.4549A>G NP_001394563.1:p.Asn1517Asp missense NM_001407635.1:c.4549A>G NP_001394564.1:p.Asn1517Asp missense NM_001407636.1:c.4549A>G NP_001394565.1:p.Asn1517Asp missense NM_001407637.1:c.4549A>G NP_001394566.1:p.Asn1517Asp missense NM_001407638.1:c.4549A>G NP_001394567.1:p.Asn1517Asp missense NM_001407639.1:c.4549A>G NP_001394568.1:p.Asn1517Asp missense NM_001407640.1:c.4549A>G NP_001394569.1:p.Asn1517Asp missense NM_001407641.1:c.4549A>G NP_001394570.1:p.Asn1517Asp missense NM_001407642.1:c.4549A>G NP_001394571.1:p.Asn1517Asp missense NM_001407644.1:c.4546A>G NP_001394573.1:p.Asn1516Asp missense NM_001407645.1:c.4546A>G NP_001394574.1:p.Asn1516Asp missense NM_001407646.1:c.4543A>G NP_001394575.1:p.Asn1515Asp missense NM_001407647.1:c.4540A>G NP_001394576.1:p.Asn1514Asp missense NM_001407648.1:c.4498A>G NP_001394577.1:p.Asn1500Asp missense NM_001407649.1:c.4495A>G NP_001394578.1:p.Asn1499Asp missense NM_001407652.1:c.4555A>G NP_001394581.1:p.Asn1519Asp missense NM_001407653.1:c.4477A>G NP_001394582.1:p.Asn1493Asp missense NM_001407654.1:c.4477A>G NP_001394583.1:p.Asn1493Asp missense NM_001407655.1:c.4477A>G NP_001394584.1:p.Asn1493Asp missense NM_001407656.1:c.4474A>G NP_001394585.1:p.Asn1492Asp missense NM_001407657.1:c.4474A>G NP_001394586.1:p.Asn1492Asp missense NM_001407658.1:c.4474A>G NP_001394587.1:p.Asn1492Asp missense NM_001407659.1:c.4471A>G NP_001394588.1:p.Asn1491Asp missense NM_001407660.1:c.4471A>G NP_001394589.1:p.Asn1491Asp missense NM_001407661.1:c.4471A>G NP_001394590.1:p.Asn1491Asp missense NM_001407662.1:c.4471A>G NP_001394591.1:p.Asn1491Asp missense NM_001407663.1:c.4471A>G NP_001394592.1:p.Asn1491Asp missense NM_001407664.1:c.4432A>G NP_001394593.1:p.Asn1478Asp missense NM_001407665.1:c.4432A>G NP_001394594.1:p.Asn1478Asp missense NM_001407666.1:c.4432A>G NP_001394595.1:p.Asn1478Asp missense NM_001407667.1:c.4432A>G NP_001394596.1:p.Asn1478Asp missense NM_001407668.1:c.4432A>G NP_001394597.1:p.Asn1478Asp missense NM_001407669.1:c.4432A>G NP_001394598.1:p.Asn1478Asp missense NM_001407670.1:c.4429A>G NP_001394599.1:p.Asn1477Asp missense NM_001407671.1:c.4429A>G NP_001394600.1:p.Asn1477Asp missense NM_001407672.1:c.4429A>G NP_001394601.1:p.Asn1477Asp missense NM_001407673.1:c.4429A>G NP_001394602.1:p.Asn1477Asp missense NM_001407674.1:c.4429A>G NP_001394603.1:p.Asn1477Asp missense NM_001407675.1:c.4429A>G NP_001394604.1:p.Asn1477Asp missense NM_001407676.1:c.4429A>G NP_001394605.1:p.Asn1477Asp missense NM_001407677.1:c.4429A>G NP_001394606.1:p.Asn1477Asp missense NM_001407678.1:c.4429A>G NP_001394607.1:p.Asn1477Asp missense NM_001407679.1:c.4429A>G NP_001394608.1:p.Asn1477Asp missense NM_001407680.1:c.4429A>G NP_001394609.1:p.Asn1477Asp missense NM_001407681.1:c.4426A>G NP_001394610.1:p.Asn1476Asp missense NM_001407682.1:c.4426A>G NP_001394611.1:p.Asn1476Asp missense NM_001407683.1:c.4426A>G NP_001394612.1:p.Asn1476Asp missense NM_001407684.1:c.4555A>G NP_001394613.1:p.Asn1519Asp missense NM_001407685.1:c.4426A>G NP_001394614.1:p.Asn1476Asp missense NM_001407686.1:c.4426A>G NP_001394615.1:p.Asn1476Asp missense NM_001407687.1:c.4426A>G NP_001394616.1:p.Asn1476Asp missense NM_001407688.1:c.4426A>G NP_001394617.1:p.Asn1476Asp missense NM_001407689.1:c.4426A>G NP_001394618.1:p.Asn1476Asp missense NM_001407690.1:c.4423A>G NP_001394619.1:p.Asn1475Asp missense NM_001407691.1:c.4423A>G NP_001394620.1:p.Asn1475Asp missense NM_001407692.1:c.4414A>G NP_001394621.1:p.Asn1472Asp missense NM_001407694.1:c.4414A>G NP_001394623.1:p.Asn1472Asp missense NM_001407695.1:c.4414A>G NP_001394624.1:p.Asn1472Asp missense NM_001407696.1:c.4414A>G NP_001394625.1:p.Asn1472Asp missense NM_001407697.1:c.4414A>G NP_001394626.1:p.Asn1472Asp missense NM_001407698.1:c.4414A>G NP_001394627.1:p.Asn1472Asp missense NM_001407724.1:c.4414A>G NP_001394653.1:p.Asn1472Asp missense NM_001407725.1:c.4414A>G NP_001394654.1:p.Asn1472Asp missense NM_001407726.1:c.4414A>G NP_001394655.1:p.Asn1472Asp missense NM_001407727.1:c.4414A>G NP_001394656.1:p.Asn1472Asp missense NM_001407728.1:c.4414A>G NP_001394657.1:p.Asn1472Asp missense NM_001407729.1:c.4414A>G NP_001394658.1:p.Asn1472Asp missense NM_001407730.1:c.4414A>G NP_001394659.1:p.Asn1472Asp missense NM_001407731.1:c.4414A>G NP_001394660.1:p.Asn1472Asp missense NM_001407732.1:c.4411A>G NP_001394661.1:p.Asn1471Asp missense NM_001407733.1:c.4411A>G NP_001394662.1:p.Asn1471Asp missense NM_001407734.1:c.4411A>G NP_001394663.1:p.Asn1471Asp missense NM_001407735.1:c.4411A>G NP_001394664.1:p.Asn1471Asp missense NM_001407736.1:c.4411A>G NP_001394665.1:p.Asn1471Asp missense NM_001407737.1:c.4411A>G NP_001394666.1:p.Asn1471Asp missense NM_001407738.1:c.4411A>G NP_001394667.1:p.Asn1471Asp missense NM_001407739.1:c.4411A>G NP_001394668.1:p.Asn1471Asp missense NM_001407740.1:c.4411A>G NP_001394669.1:p.Asn1471Asp missense NM_001407741.1:c.4411A>G NP_001394670.1:p.Asn1471Asp missense NM_001407742.1:c.4411A>G NP_001394671.1:p.Asn1471Asp missense NM_001407743.1:c.4411A>G NP_001394672.1:p.Asn1471Asp missense NM_001407744.1:c.4411A>G NP_001394673.1:p.Asn1471Asp missense NM_001407745.1:c.4411A>G NP_001394674.1:p.Asn1471Asp missense NM_001407746.1:c.4411A>G NP_001394675.1:p.Asn1471Asp missense NM_001407747.1:c.4411A>G NP_001394676.1:p.Asn1471Asp missense NM_001407748.1:c.4411A>G NP_001394677.1:p.Asn1471Asp missense NM_001407749.1:c.4411A>G NP_001394678.1:p.Asn1471Asp missense NM_001407750.1:c.4411A>G NP_001394679.1:p.Asn1471Asp missense NM_001407751.1:c.4411A>G NP_001394680.1:p.Asn1471Asp missense NM_001407752.1:c.4411A>G NP_001394681.1:p.Asn1471Asp missense NM_001407838.1:c.4408A>G NP_001394767.1:p.Asn1470Asp missense NM_001407839.1:c.4408A>G NP_001394768.1:p.Asn1470Asp missense NM_001407841.1:c.4408A>G NP_001394770.1:p.Asn1470Asp missense NM_001407842.1:c.4408A>G NP_001394771.1:p.Asn1470Asp missense NM_001407843.1:c.4408A>G NP_001394772.1:p.Asn1470Asp missense NM_001407844.1:c.4408A>G NP_001394773.1:p.Asn1470Asp missense NM_001407845.1:c.4408A>G NP_001394774.1:p.Asn1470Asp missense NM_001407846.1:c.4408A>G NP_001394775.1:p.Asn1470Asp missense NM_001407847.1:c.4408A>G NP_001394776.1:p.Asn1470Asp missense NM_001407848.1:c.4408A>G NP_001394777.1:p.Asn1470Asp missense NM_001407849.1:c.4408A>G NP_001394778.1:p.Asn1470Asp missense NM_001407850.1:c.4408A>G NP_001394779.1:p.Asn1470Asp missense NM_001407851.1:c.4408A>G NP_001394780.1:p.Asn1470Asp missense NM_001407852.1:c.4408A>G NP_001394781.1:p.Asn1470Asp missense NM_001407853.1:c.4408A>G NP_001394782.1:p.Asn1470Asp missense NM_001407854.1:c.4555A>G NP_001394783.1:p.Asn1519Asp missense NM_001407858.1:c.4552A>G NP_001394787.1:p.Asn1518Asp missense NM_001407859.1:c.4552A>G NP_001394788.1:p.Asn1518Asp missense NM_001407860.1:c.4552A>G NP_001394789.1:p.Asn1518Asp missense NM_001407861.1:c.4549A>G NP_001394790.1:p.Asn1517Asp missense NM_001407862.1:c.4354A>G NP_001394791.1:p.Asn1452Asp missense NM_001407863.1:c.4429A>G NP_001394792.1:p.Asn1477Asp missense NM_001407874.1:c.4348A>G NP_001394803.1:p.Asn1450Asp missense NM_001407875.1:c.4348A>G NP_001394804.1:p.Asn1450Asp missense NM_001407879.1:c.4345A>G NP_001394808.1:p.Asn1449Asp missense NM_001407881.1:c.4345A>G NP_001394810.1:p.Asn1449Asp missense NM_001407882.1:c.4345A>G NP_001394811.1:p.Asn1449Asp missense NM_001407884.1:c.4345A>G NP_001394813.1:p.Asn1449Asp missense NM_001407885.1:c.4345A>G NP_001394814.1:p.Asn1449Asp missense NM_001407886.1:c.4345A>G NP_001394815.1:p.Asn1449Asp missense NM_001407887.1:c.4345A>G NP_001394816.1:p.Asn1449Asp missense NM_001407889.1:c.4345A>G NP_001394818.1:p.Asn1449Asp missense NM_001407894.1:c.4342A>G NP_001394823.1:p.Asn1448Asp missense NM_001407895.1:c.4342A>G NP_001394824.1:p.Asn1448Asp missense NM_001407896.1:c.4342A>G NP_001394825.1:p.Asn1448Asp missense NM_001407897.1:c.4342A>G NP_001394826.1:p.Asn1448Asp missense NM_001407898.1:c.4342A>G NP_001394827.1:p.Asn1448Asp missense NM_001407899.1:c.4342A>G NP_001394828.1:p.Asn1448Asp missense NM_001407900.1:c.4342A>G NP_001394829.1:p.Asn1448Asp missense NM_001407902.1:c.4342A>G NP_001394831.1:p.Asn1448Asp missense NM_001407904.1:c.4342A>G NP_001394833.1:p.Asn1448Asp missense NM_001407906.1:c.4342A>G NP_001394835.1:p.Asn1448Asp missense NM_001407907.1:c.4342A>G NP_001394836.1:p.Asn1448Asp missense NM_001407908.1:c.4342A>G NP_001394837.1:p.Asn1448Asp missense NM_001407909.1:c.4342A>G NP_001394838.1:p.Asn1448Asp missense NM_001407910.1:c.4342A>G NP_001394839.1:p.Asn1448Asp missense NM_001407915.1:c.4339A>G NP_001394844.1:p.Asn1447Asp missense NM_001407916.1:c.4339A>G NP_001394845.1:p.Asn1447Asp missense NM_001407917.1:c.4339A>G NP_001394846.1:p.Asn1447Asp missense NM_001407918.1:c.4339A>G NP_001394847.1:p.Asn1447Asp missense NM_001407919.1:c.4432A>G NP_001394848.1:p.Asn1478Asp missense NM_001407920.1:c.4291A>G NP_001394849.1:p.Asn1431Asp missense NM_001407921.1:c.4291A>G NP_001394850.1:p.Asn1431Asp missense NM_001407922.1:c.4291A>G NP_001394851.1:p.Asn1431Asp missense NM_001407923.1:c.4291A>G NP_001394852.1:p.Asn1431Asp missense NM_001407924.1:c.4291A>G NP_001394853.1:p.Asn1431Asp missense NM_001407925.1:c.4291A>G NP_001394854.1:p.Asn1431Asp missense NM_001407926.1:c.4291A>G NP_001394855.1:p.Asn1431Asp missense NM_001407927.1:c.4288A>G NP_001394856.1:p.Asn1430Asp missense NM_001407928.1:c.4288A>G NP_001394857.1:p.Asn1430Asp missense NM_001407929.1:c.4288A>G NP_001394858.1:p.Asn1430Asp missense NM_001407930.1:c.4288A>G NP_001394859.1:p.Asn1430Asp missense NM_001407931.1:c.4288A>G NP_001394860.1:p.Asn1430Asp missense NM_001407932.1:c.4288A>G NP_001394861.1:p.Asn1430Asp missense NM_001407933.1:c.4288A>G NP_001394862.1:p.Asn1430Asp missense NM_001407934.1:c.4285A>G NP_001394863.1:p.Asn1429Asp missense NM_001407935.1:c.4285A>G NP_001394864.1:p.Asn1429Asp missense NM_001407936.1:c.4285A>G NP_001394865.1:p.Asn1429Asp missense NM_001407937.1:c.4432A>G NP_001394866.1:p.Asn1478Asp missense NM_001407938.1:c.4432A>G NP_001394867.1:p.Asn1478Asp missense NM_001407939.1:c.4429A>G NP_001394868.1:p.Asn1477Asp missense NM_001407940.1:c.4429A>G NP_001394869.1:p.Asn1477Asp missense NM_001407941.1:c.4426A>G NP_001394870.1:p.Asn1476Asp missense NM_001407942.1:c.4414A>G NP_001394871.1:p.Asn1472Asp missense NM_001407943.1:c.4411A>G NP_001394872.1:p.Asn1471Asp missense NM_001407944.1:c.4411A>G NP_001394873.1:p.Asn1471Asp missense NM_001407945.1:c.4411A>G NP_001394874.1:p.Asn1471Asp missense NM_001407946.1:c.4222A>G NP_001394875.1:p.Asn1408Asp missense NM_001407947.1:c.4222A>G NP_001394876.1:p.Asn1408Asp missense NM_001407948.1:c.4222A>G NP_001394877.1:p.Asn1408Asp missense NM_001407949.1:c.4222A>G NP_001394878.1:p.Asn1408Asp missense NM_001407950.1:c.4219A>G NP_001394879.1:p.Asn1407Asp missense NM_001407951.1:c.4219A>G NP_001394880.1:p.Asn1407Asp missense NM_001407952.1:c.4219A>G NP_001394881.1:p.Asn1407Asp missense NM_001407953.1:c.4219A>G NP_001394882.1:p.Asn1407Asp missense NM_001407954.1:c.4219A>G NP_001394883.1:p.Asn1407Asp missense NM_001407955.1:c.4219A>G NP_001394884.1:p.Asn1407Asp missense NM_001407956.1:c.4216A>G NP_001394885.1:p.Asn1406Asp missense NM_001407957.1:c.4216A>G NP_001394886.1:p.Asn1406Asp missense NM_001407958.1:c.4216A>G NP_001394887.1:p.Asn1406Asp missense NM_001407959.1:c.4174A>G NP_001394888.1:p.Asn1392Asp missense NM_001407960.1:c.4171A>G NP_001394889.1:p.Asn1391Asp missense NM_001407962.1:c.4171A>G NP_001394891.1:p.Asn1391Asp missense NM_001407963.1:c.4168A>G NP_001394892.1:p.Asn1390Asp missense NM_001407965.1:c.4048A>G NP_001394894.1:p.Asn1350Asp missense NM_001407966.1:c.3667A>G NP_001394895.1:p.Asn1223Asp missense NM_001407967.1:c.3664A>G NP_001394896.1:p.Asn1222Asp missense NM_001407968.1:c.1951A>G NP_001394897.1:p.Asn651Asp missense NM_001407969.1:c.1948A>G NP_001394898.1:p.Asn650Asp missense NM_001407970.1:c.1312A>G NP_001394899.1:p.Asn438Asp missense NM_001407971.1:c.1312A>G NP_001394900.1:p.Asn438Asp missense NM_001407972.1:c.1309A>G NP_001394901.1:p.Asn437Asp missense NM_001407973.1:c.1246A>G NP_001394902.1:p.Asn416Asp missense NM_001407974.1:c.1246A>G NP_001394903.1:p.Asn416Asp missense NM_001407975.1:c.1246A>G NP_001394904.1:p.Asn416Asp missense NM_001407976.1:c.1246A>G NP_001394905.1:p.Asn416Asp missense NM_001407977.1:c.1246A>G NP_001394906.1:p.Asn416Asp missense NM_001407978.1:c.1246A>G NP_001394907.1:p.Asn416Asp missense NM_001407979.1:c.1243A>G NP_001394908.1:p.Asn415Asp missense NM_001407980.1:c.1243A>G NP_001394909.1:p.Asn415Asp missense NM_001407981.1:c.1243A>G NP_001394910.1:p.Asn415Asp missense NM_001407982.1:c.1243A>G NP_001394911.1:p.Asn415Asp missense NM_001407983.1:c.1243A>G NP_001394912.1:p.Asn415Asp missense NM_001407984.1:c.1243A>G NP_001394913.1:p.Asn415Asp missense NM_001407985.1:c.1243A>G NP_001394914.1:p.Asn415Asp missense NM_001407986.1:c.1243A>G NP_001394915.1:p.Asn415Asp missense NM_001407990.1:c.1243A>G NP_001394919.1:p.Asn415Asp missense NM_001407991.1:c.1243A>G NP_001394920.1:p.Asn415Asp missense NM_001407992.1:c.1243A>G NP_001394921.1:p.Asn415Asp missense NM_001407993.1:c.1243A>G NP_001394922.1:p.Asn415Asp missense NM_001408392.1:c.1240A>G NP_001395321.1:p.Asn414Asp missense NM_001408396.1:c.1240A>G NP_001395325.1:p.Asn414Asp missense NM_001408397.1:c.1240A>G NP_001395326.1:p.Asn414Asp missense NM_001408398.1:c.1240A>G NP_001395327.1:p.Asn414Asp missense NM_001408399.1:c.1240A>G NP_001395328.1:p.Asn414Asp missense NM_001408400.1:c.1240A>G NP_001395329.1:p.Asn414Asp missense NM_001408401.1:c.1240A>G NP_001395330.1:p.Asn414Asp missense NM_001408402.1:c.1240A>G NP_001395331.1:p.Asn414Asp missense NM_001408403.1:c.1240A>G NP_001395332.1:p.Asn414Asp missense NM_001408404.1:c.1240A>G NP_001395333.1:p.Asn414Asp missense NM_001408406.1:c.1237A>G NP_001395335.1:p.Asn413Asp missense NM_001408407.1:c.1237A>G NP_001395336.1:p.Asn413Asp missense NM_001408408.1:c.1237A>G NP_001395337.1:p.Asn413Asp missense NM_001408409.1:c.1234A>G NP_001395338.1:p.Asn412Asp missense NM_001408410.1:c.1171A>G NP_001395339.1:p.Asn391Asp missense NM_001408411.1:c.1168A>G NP_001395340.1:p.Asn390Asp missense NM_001408412.1:c.1165A>G NP_001395341.1:p.Asn389Asp missense NM_001408413.1:c.1165A>G NP_001395342.1:p.Asn389Asp missense NM_001408414.1:c.1165A>G NP_001395343.1:p.Asn389Asp missense NM_001408415.1:c.1165A>G NP_001395344.1:p.Asn389Asp missense NM_001408416.1:c.1165A>G NP_001395345.1:p.Asn389Asp missense NM_001408418.1:c.1129A>G NP_001395347.1:p.Asn377Asp missense NM_001408419.1:c.1129A>G NP_001395348.1:p.Asn377Asp missense NM_001408420.1:c.1129A>G NP_001395349.1:p.Asn377Asp missense NM_001408421.1:c.1126A>G NP_001395350.1:p.Asn376Asp missense NM_001408422.1:c.1126A>G NP_001395351.1:p.Asn376Asp missense NM_001408423.1:c.1126A>G NP_001395352.1:p.Asn376Asp missense NM_001408424.1:c.1126A>G NP_001395353.1:p.Asn376Asp missense NM_001408425.1:c.1123A>G NP_001395354.1:p.Asn375Asp missense NM_001408426.1:c.1123A>G NP_001395355.1:p.Asn375Asp missense NM_001408427.1:c.1123A>G NP_001395356.1:p.Asn375Asp missense NM_001408428.1:c.1123A>G NP_001395357.1:p.Asn375Asp missense NM_001408429.1:c.1123A>G NP_001395358.1:p.Asn375Asp missense NM_001408430.1:c.1123A>G NP_001395359.1:p.Asn375Asp missense NM_001408431.1:c.1123A>G NP_001395360.1:p.Asn375Asp missense NM_001408432.1:c.1120A>G NP_001395361.1:p.Asn374Asp missense NM_001408433.1:c.1120A>G NP_001395362.1:p.Asn374Asp missense NM_001408434.1:c.1120A>G NP_001395363.1:p.Asn374Asp missense NM_001408435.1:c.1120A>G NP_001395364.1:p.Asn374Asp missense NM_001408436.1:c.1120A>G NP_001395365.1:p.Asn374Asp missense NM_001408437.1:c.1120A>G NP_001395366.1:p.Asn374Asp missense NM_001408438.1:c.1120A>G NP_001395367.1:p.Asn374Asp missense NM_001408439.1:c.1120A>G NP_001395368.1:p.Asn374Asp missense NM_001408440.1:c.1120A>G NP_001395369.1:p.Asn374Asp missense NM_001408441.1:c.1120A>G NP_001395370.1:p.Asn374Asp missense NM_001408442.1:c.1120A>G NP_001395371.1:p.Asn374Asp missense NM_001408443.1:c.1120A>G NP_001395372.1:p.Asn374Asp missense NM_001408444.1:c.1120A>G NP_001395373.1:p.Asn374Asp missense NM_001408445.1:c.1117A>G NP_001395374.1:p.Asn373Asp missense NM_001408446.1:c.1117A>G NP_001395375.1:p.Asn373Asp missense NM_001408447.1:c.1117A>G NP_001395376.1:p.Asn373Asp missense NM_001408448.1:c.1117A>G NP_001395377.1:p.Asn373Asp missense NM_001408450.1:c.1117A>G NP_001395379.1:p.Asn373Asp missense NM_001408451.1:c.1111A>G NP_001395380.1:p.Asn371Asp missense NM_001408452.1:c.1105A>G NP_001395381.1:p.Asn369Asp missense NM_001408453.1:c.1105A>G NP_001395382.1:p.Asn369Asp missense NM_001408454.1:c.1105A>G NP_001395383.1:p.Asn369Asp missense NM_001408455.1:c.1105A>G NP_001395384.1:p.Asn369Asp missense NM_001408456.1:c.1105A>G NP_001395385.1:p.Asn369Asp missense NM_001408457.1:c.1105A>G NP_001395386.1:p.Asn369Asp missense NM_001408458.1:c.1102A>G NP_001395387.1:p.Asn368Asp missense NM_001408459.1:c.1102A>G NP_001395388.1:p.Asn368Asp missense NM_001408460.1:c.1102A>G NP_001395389.1:p.Asn368Asp missense NM_001408461.1:c.1102A>G NP_001395390.1:p.Asn368Asp missense NM_001408462.1:c.1102A>G NP_001395391.1:p.Asn368Asp missense NM_001408463.1:c.1102A>G NP_001395392.1:p.Asn368Asp missense NM_001408464.1:c.1102A>G NP_001395393.1:p.Asn368Asp missense NM_001408465.1:c.1102A>G NP_001395394.1:p.Asn368Asp missense NM_001408466.1:c.1102A>G NP_001395395.1:p.Asn368Asp missense NM_001408467.1:c.1102A>G NP_001395396.1:p.Asn368Asp missense NM_001408468.1:c.1099A>G NP_001395397.1:p.Asn367Asp missense NM_001408469.1:c.1099A>G NP_001395398.1:p.Asn367Asp missense NM_001408470.1:c.1099A>G NP_001395399.1:p.Asn367Asp missense NM_001408472.1:c.1243A>G NP_001395401.1:p.Asn415Asp missense NM_001408473.1:c.1240A>G NP_001395402.1:p.Asn414Asp missense NM_001408474.1:c.1045A>G NP_001395403.1:p.Asn349Asp missense NM_001408475.1:c.1042A>G NP_001395404.1:p.Asn348Asp missense NM_001408476.1:c.1042A>G NP_001395405.1:p.Asn348Asp missense NM_001408478.1:c.1036A>G NP_001395407.1:p.Asn346Asp missense NM_001408479.1:c.1036A>G NP_001395408.1:p.Asn346Asp missense NM_001408480.1:c.1036A>G NP_001395409.1:p.Asn346Asp missense NM_001408481.1:c.1033A>G NP_001395410.1:p.Asn345Asp missense NM_001408482.1:c.1033A>G NP_001395411.1:p.Asn345Asp missense NM_001408483.1:c.1033A>G NP_001395412.1:p.Asn345Asp missense NM_001408484.1:c.1033A>G NP_001395413.1:p.Asn345Asp missense NM_001408485.1:c.1033A>G NP_001395414.1:p.Asn345Asp missense NM_001408489.1:c.1033A>G NP_001395418.1:p.Asn345Asp missense NM_001408490.1:c.1033A>G NP_001395419.1:p.Asn345Asp missense NM_001408491.1:c.1033A>G NP_001395420.1:p.Asn345Asp missense NM_001408492.1:c.1030A>G NP_001395421.1:p.Asn344Asp missense NM_001408493.1:c.1030A>G NP_001395422.1:p.Asn344Asp missense NM_001408494.1:c.1006A>G NP_001395423.1:p.Asn336Asp missense NM_001408495.1:c.1000A>G NP_001395424.1:p.Asn334Asp missense NM_001408496.1:c.982A>G NP_001395425.1:p.Asn328Asp missense NM_001408497.1:c.982A>G NP_001395426.1:p.Asn328Asp missense NM_001408498.1:c.982A>G NP_001395427.1:p.Asn328Asp missense NM_001408499.1:c.982A>G NP_001395428.1:p.Asn328Asp missense NM_001408500.1:c.982A>G NP_001395429.1:p.Asn328Asp missense NM_001408501.1:c.982A>G NP_001395430.1:p.Asn328Asp missense NM_001408502.1:c.979A>G NP_001395431.1:p.Asn327Asp missense NM_001408503.1:c.979A>G NP_001395432.1:p.Asn327Asp missense NM_001408504.1:c.979A>G NP_001395433.1:p.Asn327Asp missense NM_001408505.1:c.976A>G NP_001395434.1:p.Asn326Asp missense NM_001408506.1:c.919A>G NP_001395435.1:p.Asn307Asp missense NM_001408507.1:c.916A>G NP_001395436.1:p.Asn306Asp missense NM_001408508.1:c.907A>G NP_001395437.1:p.Asn303Asp missense NM_001408509.1:c.904A>G NP_001395438.1:p.Asn302Asp missense NM_001408510.1:c.865A>G NP_001395439.1:p.Asn289Asp missense NM_001408511.1:c.862A>G NP_001395440.1:p.Asn288Asp missense NM_001408512.1:c.742A>G NP_001395441.1:p.Asn248Asp missense NM_007297.4:c.4414A>G NP_009228.2:p.Asn1472Asp missense NM_007298.4:c.1243A>G NP_009229.2:p.Asn415Asp missense NM_007299.4:c.1243A>G NP_009230.2:p.Asn415Asp missense NM_007300.4:c.4618A>G NP_009231.2:p.Asn1540Asp missense NM_007304.2:c.1243A>G NP_009235.2:p.Asn415Asp missense NR_027676.2:n.4732A>G non-coding transcript variant NC_000017.11:g.43074451T>C NC_000017.10:g.41226468T>C NG_005905.2:g.143533A>G LRG_292:g.143533A>G LRG_292t1:c.4555A>G LRG_292p1:p.Asn1519Asp - Protein change
- N1519D, N1472D, N1540D, N415D, N1429D, N1430D, N1447D, N1450D, N1470D, N1478D, N1492D, N1493D, N1515D, N1539D, N1541D, N248D, N327D, N348D, N371D, N373D, N375D, N376D, N414D, N1223D, N1391D, N1408D, N1449D, N1476D, N1499D, N1516D, N288D, N302D, N303D, N326D, N334D, N346D, N349D, N374D, N389D, N391D, N412D, N437D, N650D, N1390D, N1392D, N1407D, N1431D, N1452D, N1475D, N1477D, N1500D, N1514D, N1518D, N289D, N307D, N344D, N367D, N377D, N438D, N1222D, N1350D, N1406D, N1448D, N1471D, N1491D, N1517D, N306D, N328D, N336D, N345D, N368D, N369D, N390D, N413D, N416D, N651D
- Other names
- -
- Canonical SPDI
- NC_000017.11:43074450:T:C
-
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 |
13041 | 14847 | |
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
|
Apr 22, 2018 | RCV000692169.8 | |
| Uncertain significance (1) |
criteria provided, single submitter
|
Mar 15, 2024 | RCV004569306.1 |
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
(Apr 22, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000819980.4
First in ClinVar: Oct 10, 2018 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces asparagine with aspartic acid at codon 1519 of the BRCA1 protein (p.Asn1519Asp). The asparagine residue is weakly conserved and there is … (more)
This sequence change replaces asparagine with aspartic acid at codon 1519 of the BRCA1 protein (p.Asn1519Asp). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. 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 aspartic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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
(Mar 15, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV005058226.1
First in ClinVar: Jun 17, 2024 Last updated: Jun 17, 2024 |
|
Comment:
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 sequence change replaces asparagine with aspartic acid at codon 1519 of the BRCA1 protein (p.Asn1519Asp). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. 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 aspartic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
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 rs1567778111 ...
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 Oct 08, 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.