The p.E1586V variant (also known as c.4757A>T), located in coding exon 14 of the BRCA1 gene, results from an A to T substitution at nucleotide position 4757. The glutamic acid at codon 1586 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4757A>T (p.Glu1586Val)
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.
(1)
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
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4757A>T (p.Glu1586Val)
Variation ID: 2565351 Accession: VCV002565351.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43071157 (GRCh38) [ NCBI UCSC ] 17: 41223174 (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 8, 2023 May 1, 2024 May 16, 2023 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4757A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1586Val missense NM_001407571.1:c.4544A>T NP_001394500.1:p.Glu1515Val missense NM_001407581.1:c.4823A>T NP_001394510.1:p.Glu1608Val missense NM_001407582.1:c.4823A>T NP_001394511.1:p.Glu1608Val missense NM_001407583.1:c.4820A>T NP_001394512.1:p.Glu1607Val missense NM_001407585.1:c.4820A>T NP_001394514.1:p.Glu1607Val missense NM_001407587.1:c.4820A>T NP_001394516.1:p.Glu1607Val missense NM_001407590.1:c.4817A>T NP_001394519.1:p.Glu1606Val missense NM_001407591.1:c.4817A>T NP_001394520.1:p.Glu1606Val missense NM_001407593.1:c.4757A>T NP_001394522.1:p.Glu1586Val missense NM_001407594.1:c.4757A>T NP_001394523.1:p.Glu1586Val missense NM_001407596.1:c.4757A>T NP_001394525.1:p.Glu1586Val missense NM_001407597.1:c.4757A>T NP_001394526.1:p.Glu1586Val missense NM_001407598.1:c.4757A>T NP_001394527.1:p.Glu1586Val missense NM_001407602.1:c.4757A>T NP_001394531.1:p.Glu1586Val missense NM_001407603.1:c.4757A>T NP_001394532.1:p.Glu1586Val missense NM_001407605.1:c.4757A>T NP_001394534.1:p.Glu1586Val missense NM_001407610.1:c.4754A>T NP_001394539.1:p.Glu1585Val missense NM_001407611.1:c.4754A>T NP_001394540.1:p.Glu1585Val missense NM_001407612.1:c.4754A>T NP_001394541.1:p.Glu1585Val missense NM_001407613.1:c.4754A>T NP_001394542.1:p.Glu1585Val missense NM_001407614.1:c.4754A>T NP_001394543.1:p.Glu1585Val missense NM_001407615.1:c.4754A>T NP_001394544.1:p.Glu1585Val missense NM_001407616.1:c.4754A>T NP_001394545.1:p.Glu1585Val missense NM_001407617.1:c.4754A>T NP_001394546.1:p.Glu1585Val missense NM_001407618.1:c.4754A>T NP_001394547.1:p.Glu1585Val missense NM_001407619.1:c.4754A>T NP_001394548.1:p.Glu1585Val missense NM_001407620.1:c.4754A>T NP_001394549.1:p.Glu1585Val missense NM_001407621.1:c.4754A>T NP_001394550.1:p.Glu1585Val missense NM_001407622.1:c.4754A>T NP_001394551.1:p.Glu1585Val missense NM_001407623.1:c.4754A>T NP_001394552.1:p.Glu1585Val missense NM_001407624.1:c.4754A>T NP_001394553.1:p.Glu1585Val missense NM_001407625.1:c.4754A>T NP_001394554.1:p.Glu1585Val missense NM_001407626.1:c.4754A>T NP_001394555.1:p.Glu1585Val missense NM_001407627.1:c.4751A>T NP_001394556.1:p.Glu1584Val missense NM_001407628.1:c.4751A>T NP_001394557.1:p.Glu1584Val missense NM_001407629.1:c.4751A>T NP_001394558.1:p.Glu1584Val missense NM_001407630.1:c.4751A>T NP_001394559.1:p.Glu1584Val missense NM_001407631.1:c.4751A>T NP_001394560.1:p.Glu1584Val missense NM_001407632.1:c.4751A>T NP_001394561.1:p.Glu1584Val missense NM_001407633.1:c.4751A>T NP_001394562.1:p.Glu1584Val missense NM_001407634.1:c.4751A>T NP_001394563.1:p.Glu1584Val missense NM_001407635.1:c.4751A>T NP_001394564.1:p.Glu1584Val missense NM_001407636.1:c.4751A>T NP_001394565.1:p.Glu1584Val missense NM_001407637.1:c.4751A>T NP_001394566.1:p.Glu1584Val missense NM_001407638.1:c.4751A>T NP_001394567.1:p.Glu1584Val missense NM_001407639.1:c.4751A>T NP_001394568.1:p.Glu1584Val missense NM_001407640.1:c.4751A>T NP_001394569.1:p.Glu1584Val missense NM_001407641.1:c.4751A>T NP_001394570.1:p.Glu1584Val missense NM_001407642.1:c.4751A>T NP_001394571.1:p.Glu1584Val missense NM_001407644.1:c.4748A>T NP_001394573.1:p.Glu1583Val missense NM_001407645.1:c.4748A>T NP_001394574.1:p.Glu1583Val missense NM_001407646.1:c.4745A>T NP_001394575.1:p.Glu1582Val missense NM_001407647.1:c.4742A>T NP_001394576.1:p.Glu1581Val missense NM_001407648.1:c.4700A>T NP_001394577.1:p.Glu1567Val missense NM_001407649.1:c.4697A>T NP_001394578.1:p.Glu1566Val missense NM_001407652.1:c.4757A>T NP_001394581.1:p.Glu1586Val missense NM_001407653.1:c.4679A>T NP_001394582.1:p.Glu1560Val missense NM_001407654.1:c.4679A>T NP_001394583.1:p.Glu1560Val missense NM_001407655.1:c.4679A>T NP_001394584.1:p.Glu1560Val missense NM_001407656.1:c.4676A>T NP_001394585.1:p.Glu1559Val missense NM_001407657.1:c.4676A>T NP_001394586.1:p.Glu1559Val missense NM_001407658.1:c.4676A>T NP_001394587.1:p.Glu1559Val missense NM_001407659.1:c.4673A>T NP_001394588.1:p.Glu1558Val missense NM_001407660.1:c.4673A>T NP_001394589.1:p.Glu1558Val missense NM_001407661.1:c.4673A>T NP_001394590.1:p.Glu1558Val missense NM_001407662.1:c.4673A>T NP_001394591.1:p.Glu1558Val missense NM_001407663.1:c.4673A>T NP_001394592.1:p.Glu1558Val missense NM_001407664.1:c.4634A>T NP_001394593.1:p.Glu1545Val missense NM_001407665.1:c.4634A>T NP_001394594.1:p.Glu1545Val missense NM_001407666.1:c.4634A>T NP_001394595.1:p.Glu1545Val missense NM_001407667.1:c.4634A>T NP_001394596.1:p.Glu1545Val missense NM_001407668.1:c.4634A>T NP_001394597.1:p.Glu1545Val missense NM_001407669.1:c.4634A>T NP_001394598.1:p.Glu1545Val missense NM_001407670.1:c.4631A>T NP_001394599.1:p.Glu1544Val missense NM_001407671.1:c.4631A>T NP_001394600.1:p.Glu1544Val missense NM_001407672.1:c.4631A>T NP_001394601.1:p.Glu1544Val missense NM_001407673.1:c.4631A>T NP_001394602.1:p.Glu1544Val missense NM_001407674.1:c.4631A>T NP_001394603.1:p.Glu1544Val missense NM_001407675.1:c.4631A>T NP_001394604.1:p.Glu1544Val missense NM_001407676.1:c.4631A>T NP_001394605.1:p.Glu1544Val missense NM_001407677.1:c.4631A>T NP_001394606.1:p.Glu1544Val missense NM_001407678.1:c.4631A>T NP_001394607.1:p.Glu1544Val missense NM_001407679.1:c.4631A>T NP_001394608.1:p.Glu1544Val missense NM_001407680.1:c.4631A>T NP_001394609.1:p.Glu1544Val missense NM_001407681.1:c.4628A>T NP_001394610.1:p.Glu1543Val missense NM_001407682.1:c.4628A>T NP_001394611.1:p.Glu1543Val missense NM_001407683.1:c.4628A>T NP_001394612.1:p.Glu1543Val missense NM_001407684.1:c.4757A>T NP_001394613.1:p.Glu1586Val missense NM_001407685.1:c.4628A>T NP_001394614.1:p.Glu1543Val missense NM_001407686.1:c.4628A>T NP_001394615.1:p.Glu1543Val missense NM_001407687.1:c.4628A>T NP_001394616.1:p.Glu1543Val missense NM_001407688.1:c.4628A>T NP_001394617.1:p.Glu1543Val missense NM_001407689.1:c.4628A>T NP_001394618.1:p.Glu1543Val missense NM_001407690.1:c.4625A>T NP_001394619.1:p.Glu1542Val missense NM_001407691.1:c.4625A>T NP_001394620.1:p.Glu1542Val missense NM_001407692.1:c.4616A>T NP_001394621.1:p.Glu1539Val missense NM_001407694.1:c.4616A>T NP_001394623.1:p.Glu1539Val missense NM_001407695.1:c.4616A>T NP_001394624.1:p.Glu1539Val missense NM_001407696.1:c.4616A>T NP_001394625.1:p.Glu1539Val missense NM_001407697.1:c.4616A>T NP_001394626.1:p.Glu1539Val missense NM_001407698.1:c.4616A>T NP_001394627.1:p.Glu1539Val missense NM_001407724.1:c.4616A>T NP_001394653.1:p.Glu1539Val missense NM_001407725.1:c.4616A>T NP_001394654.1:p.Glu1539Val missense NM_001407726.1:c.4616A>T NP_001394655.1:p.Glu1539Val missense NM_001407727.1:c.4616A>T NP_001394656.1:p.Glu1539Val missense NM_001407728.1:c.4616A>T NP_001394657.1:p.Glu1539Val missense NM_001407729.1:c.4616A>T NP_001394658.1:p.Glu1539Val missense NM_001407730.1:c.4616A>T NP_001394659.1:p.Glu1539Val missense NM_001407731.1:c.4616A>T NP_001394660.1:p.Glu1539Val missense NM_001407732.1:c.4613A>T NP_001394661.1:p.Glu1538Val missense NM_001407733.1:c.4613A>T NP_001394662.1:p.Glu1538Val missense NM_001407734.1:c.4613A>T NP_001394663.1:p.Glu1538Val missense NM_001407735.1:c.4613A>T NP_001394664.1:p.Glu1538Val missense NM_001407736.1:c.4613A>T NP_001394665.1:p.Glu1538Val missense NM_001407737.1:c.4613A>T NP_001394666.1:p.Glu1538Val missense NM_001407738.1:c.4613A>T NP_001394667.1:p.Glu1538Val missense NM_001407739.1:c.4613A>T NP_001394668.1:p.Glu1538Val missense NM_001407740.1:c.4613A>T NP_001394669.1:p.Glu1538Val missense NM_001407741.1:c.4613A>T NP_001394670.1:p.Glu1538Val missense NM_001407742.1:c.4613A>T NP_001394671.1:p.Glu1538Val missense NM_001407743.1:c.4613A>T NP_001394672.1:p.Glu1538Val missense NM_001407744.1:c.4613A>T NP_001394673.1:p.Glu1538Val missense NM_001407745.1:c.4613A>T NP_001394674.1:p.Glu1538Val missense NM_001407746.1:c.4613A>T NP_001394675.1:p.Glu1538Val missense NM_001407747.1:c.4613A>T NP_001394676.1:p.Glu1538Val missense NM_001407748.1:c.4613A>T NP_001394677.1:p.Glu1538Val missense NM_001407749.1:c.4613A>T NP_001394678.1:p.Glu1538Val missense NM_001407750.1:c.4613A>T NP_001394679.1:p.Glu1538Val missense NM_001407751.1:c.4613A>T NP_001394680.1:p.Glu1538Val missense NM_001407752.1:c.4613A>T NP_001394681.1:p.Glu1538Val missense NM_001407838.1:c.4610A>T NP_001394767.1:p.Glu1537Val missense NM_001407839.1:c.4610A>T NP_001394768.1:p.Glu1537Val missense NM_001407841.1:c.4610A>T NP_001394770.1:p.Glu1537Val missense NM_001407842.1:c.4610A>T NP_001394771.1:p.Glu1537Val missense NM_001407843.1:c.4610A>T NP_001394772.1:p.Glu1537Val missense NM_001407844.1:c.4610A>T NP_001394773.1:p.Glu1537Val missense NM_001407845.1:c.4610A>T NP_001394774.1:p.Glu1537Val missense NM_001407846.1:c.4610A>T NP_001394775.1:p.Glu1537Val missense NM_001407847.1:c.4610A>T NP_001394776.1:p.Glu1537Val missense NM_001407848.1:c.4610A>T NP_001394777.1:p.Glu1537Val missense NM_001407849.1:c.4610A>T NP_001394778.1:p.Glu1537Val missense NM_001407850.1:c.4610A>T NP_001394779.1:p.Glu1537Val missense NM_001407851.1:c.4610A>T NP_001394780.1:p.Glu1537Val missense NM_001407852.1:c.4610A>T NP_001394781.1:p.Glu1537Val missense NM_001407853.1:c.4610A>T NP_001394782.1:p.Glu1537Val missense NM_001407854.1:c.4757A>T NP_001394783.1:p.Glu1586Val missense NM_001407858.1:c.4754A>T NP_001394787.1:p.Glu1585Val missense NM_001407859.1:c.4754A>T NP_001394788.1:p.Glu1585Val missense NM_001407860.1:c.4754A>T NP_001394789.1:p.Glu1585Val missense NM_001407861.1:c.4751A>T NP_001394790.1:p.Glu1584Val missense NM_001407862.1:c.4556A>T NP_001394791.1:p.Glu1519Val missense NM_001407863.1:c.4631A>T NP_001394792.1:p.Glu1544Val missense NM_001407874.1:c.4550A>T NP_001394803.1:p.Glu1517Val missense NM_001407875.1:c.4550A>T NP_001394804.1:p.Glu1517Val missense NM_001407879.1:c.4547A>T NP_001394808.1:p.Glu1516Val missense NM_001407881.1:c.4547A>T NP_001394810.1:p.Glu1516Val missense NM_001407882.1:c.4547A>T NP_001394811.1:p.Glu1516Val missense NM_001407884.1:c.4547A>T NP_001394813.1:p.Glu1516Val missense NM_001407885.1:c.4547A>T NP_001394814.1:p.Glu1516Val missense NM_001407886.1:c.4547A>T NP_001394815.1:p.Glu1516Val missense NM_001407887.1:c.4547A>T NP_001394816.1:p.Glu1516Val missense NM_001407889.1:c.4547A>T NP_001394818.1:p.Glu1516Val missense NM_001407894.1:c.4544A>T NP_001394823.1:p.Glu1515Val missense NM_001407895.1:c.4544A>T NP_001394824.1:p.Glu1515Val missense NM_001407896.1:c.4544A>T NP_001394825.1:p.Glu1515Val missense NM_001407897.1:c.4544A>T NP_001394826.1:p.Glu1515Val missense NM_001407898.1:c.4544A>T NP_001394827.1:p.Glu1515Val missense NM_001407899.1:c.4544A>T NP_001394828.1:p.Glu1515Val missense NM_001407900.1:c.4544A>T NP_001394829.1:p.Glu1515Val missense NM_001407902.1:c.4544A>T NP_001394831.1:p.Glu1515Val missense NM_001407904.1:c.4544A>T NP_001394833.1:p.Glu1515Val missense NM_001407906.1:c.4544A>T NP_001394835.1:p.Glu1515Val missense NM_001407907.1:c.4544A>T NP_001394836.1:p.Glu1515Val missense NM_001407908.1:c.4544A>T NP_001394837.1:p.Glu1515Val missense NM_001407909.1:c.4544A>T NP_001394838.1:p.Glu1515Val missense NM_001407910.1:c.4544A>T NP_001394839.1:p.Glu1515Val missense NM_001407915.1:c.4541A>T NP_001394844.1:p.Glu1514Val missense NM_001407916.1:c.4541A>T NP_001394845.1:p.Glu1514Val missense NM_001407917.1:c.4541A>T NP_001394846.1:p.Glu1514Val missense NM_001407918.1:c.4541A>T NP_001394847.1:p.Glu1514Val missense NM_001407919.1:c.4634A>T NP_001394848.1:p.Glu1545Val missense NM_001407920.1:c.4493A>T NP_001394849.1:p.Glu1498Val missense NM_001407921.1:c.4493A>T NP_001394850.1:p.Glu1498Val missense NM_001407922.1:c.4493A>T NP_001394851.1:p.Glu1498Val missense NM_001407923.1:c.4493A>T NP_001394852.1:p.Glu1498Val missense NM_001407924.1:c.4493A>T NP_001394853.1:p.Glu1498Val missense NM_001407925.1:c.4493A>T NP_001394854.1:p.Glu1498Val missense NM_001407926.1:c.4493A>T NP_001394855.1:p.Glu1498Val missense NM_001407927.1:c.4490A>T NP_001394856.1:p.Glu1497Val missense NM_001407928.1:c.4490A>T NP_001394857.1:p.Glu1497Val missense NM_001407929.1:c.4490A>T NP_001394858.1:p.Glu1497Val missense NM_001407930.1:c.4490A>T NP_001394859.1:p.Glu1497Val missense NM_001407931.1:c.4490A>T NP_001394860.1:p.Glu1497Val missense NM_001407932.1:c.4490A>T NP_001394861.1:p.Glu1497Val missense NM_001407933.1:c.4490A>T NP_001394862.1:p.Glu1497Val missense NM_001407934.1:c.4487A>T NP_001394863.1:p.Glu1496Val missense NM_001407935.1:c.4487A>T NP_001394864.1:p.Glu1496Val missense NM_001407936.1:c.4487A>T NP_001394865.1:p.Glu1496Val missense NM_001407937.1:c.4634A>T NP_001394866.1:p.Glu1545Val missense NM_001407938.1:c.4634A>T NP_001394867.1:p.Glu1545Val missense NM_001407939.1:c.4631A>T NP_001394868.1:p.Glu1544Val missense NM_001407940.1:c.4631A>T NP_001394869.1:p.Glu1544Val missense NM_001407941.1:c.4628A>T NP_001394870.1:p.Glu1543Val missense NM_001407942.1:c.4616A>T NP_001394871.1:p.Glu1539Val missense NM_001407943.1:c.4613A>T NP_001394872.1:p.Glu1538Val missense NM_001407944.1:c.4613A>T NP_001394873.1:p.Glu1538Val missense NM_001407945.1:c.4613A>T NP_001394874.1:p.Glu1538Val missense NM_001407946.1:c.4424A>T NP_001394875.1:p.Glu1475Val missense NM_001407947.1:c.4424A>T NP_001394876.1:p.Glu1475Val missense NM_001407948.1:c.4424A>T NP_001394877.1:p.Glu1475Val missense NM_001407949.1:c.4424A>T NP_001394878.1:p.Glu1475Val missense NM_001407950.1:c.4421A>T NP_001394879.1:p.Glu1474Val missense NM_001407951.1:c.4421A>T NP_001394880.1:p.Glu1474Val missense NM_001407952.1:c.4421A>T NP_001394881.1:p.Glu1474Val missense NM_001407953.1:c.4421A>T NP_001394882.1:p.Glu1474Val missense NM_001407954.1:c.4421A>T NP_001394883.1:p.Glu1474Val missense NM_001407955.1:c.4421A>T NP_001394884.1:p.Glu1474Val missense NM_001407956.1:c.4418A>T NP_001394885.1:p.Glu1473Val missense NM_001407957.1:c.4418A>T NP_001394886.1:p.Glu1473Val missense NM_001407958.1:c.4418A>T NP_001394887.1:p.Glu1473Val missense NM_001407959.1:c.4376A>T NP_001394888.1:p.Glu1459Val missense NM_001407960.1:c.4373A>T NP_001394889.1:p.Glu1458Val missense NM_001407962.1:c.4373A>T NP_001394891.1:p.Glu1458Val missense NM_001407963.1:c.4370A>T NP_001394892.1:p.Glu1457Val missense NM_001407964.1:c.4295A>T NP_001394893.1:p.Glu1432Val missense NM_001407965.1:c.4250A>T NP_001394894.1:p.Glu1417Val missense NM_001407966.1:c.3869A>T NP_001394895.1:p.Glu1290Val missense NM_001407967.1:c.3866A>T NP_001394896.1:p.Glu1289Val missense NM_001407968.1:c.2153A>T NP_001394897.1:p.Glu718Val missense NM_001407969.1:c.2150A>T NP_001394898.1:p.Glu717Val missense NM_001407970.1:c.1514A>T NP_001394899.1:p.Glu505Val missense NM_001407971.1:c.1514A>T NP_001394900.1:p.Glu505Val missense NM_001407972.1:c.1511A>T NP_001394901.1:p.Glu504Val missense NM_001407973.1:c.1448A>T NP_001394902.1:p.Glu483Val missense NM_001407974.1:c.1448A>T NP_001394903.1:p.Glu483Val missense NM_001407975.1:c.1448A>T NP_001394904.1:p.Glu483Val missense NM_001407976.1:c.1448A>T NP_001394905.1:p.Glu483Val missense NM_001407977.1:c.1448A>T NP_001394906.1:p.Glu483Val missense NM_001407978.1:c.1448A>T NP_001394907.1:p.Glu483Val missense NM_001407979.1:c.1445A>T NP_001394908.1:p.Glu482Val missense NM_001407980.1:c.1445A>T NP_001394909.1:p.Glu482Val missense NM_001407981.1:c.1445A>T NP_001394910.1:p.Glu482Val missense NM_001407982.1:c.1445A>T NP_001394911.1:p.Glu482Val missense NM_001407983.1:c.1445A>T NP_001394912.1:p.Glu482Val missense NM_001407984.1:c.1445A>T NP_001394913.1:p.Glu482Val missense NM_001407985.1:c.1445A>T NP_001394914.1:p.Glu482Val missense NM_001407986.1:c.1445A>T NP_001394915.1:p.Glu482Val missense NM_001407990.1:c.1445A>T NP_001394919.1:p.Glu482Val missense NM_001407991.1:c.1445A>T NP_001394920.1:p.Glu482Val missense NM_001407992.1:c.1445A>T NP_001394921.1:p.Glu482Val missense NM_001407993.1:c.1445A>T NP_001394922.1:p.Glu482Val missense NM_001408392.1:c.1442A>T NP_001395321.1:p.Glu481Val missense NM_001408396.1:c.1442A>T NP_001395325.1:p.Glu481Val missense NM_001408397.1:c.1442A>T NP_001395326.1:p.Glu481Val missense NM_001408398.1:c.1442A>T NP_001395327.1:p.Glu481Val missense NM_001408399.1:c.1442A>T NP_001395328.1:p.Glu481Val missense NM_001408400.1:c.1442A>T NP_001395329.1:p.Glu481Val missense NM_001408401.1:c.1442A>T NP_001395330.1:p.Glu481Val missense NM_001408402.1:c.1442A>T NP_001395331.1:p.Glu481Val missense NM_001408403.1:c.1442A>T NP_001395332.1:p.Glu481Val missense NM_001408404.1:c.1442A>T NP_001395333.1:p.Glu481Val missense NM_001408406.1:c.1439A>T NP_001395335.1:p.Glu480Val missense NM_001408407.1:c.1439A>T NP_001395336.1:p.Glu480Val missense NM_001408408.1:c.1439A>T NP_001395337.1:p.Glu480Val missense NM_001408409.1:c.1436A>T NP_001395338.1:p.Glu479Val missense NM_001408410.1:c.1373A>T NP_001395339.1:p.Glu458Val missense NM_001408411.1:c.1370A>T NP_001395340.1:p.Glu457Val missense NM_001408412.1:c.1367A>T NP_001395341.1:p.Glu456Val missense NM_001408413.1:c.1367A>T NP_001395342.1:p.Glu456Val missense NM_001408414.1:c.1367A>T NP_001395343.1:p.Glu456Val missense NM_001408415.1:c.1367A>T NP_001395344.1:p.Glu456Val missense NM_001408416.1:c.1367A>T NP_001395345.1:p.Glu456Val missense NM_001408418.1:c.1331A>T NP_001395347.1:p.Glu444Val missense NM_001408419.1:c.1331A>T NP_001395348.1:p.Glu444Val missense NM_001408420.1:c.1331A>T NP_001395349.1:p.Glu444Val missense NM_001408421.1:c.1328A>T NP_001395350.1:p.Glu443Val missense NM_001408422.1:c.1328A>T NP_001395351.1:p.Glu443Val missense NM_001408423.1:c.1328A>T NP_001395352.1:p.Glu443Val missense NM_001408424.1:c.1328A>T NP_001395353.1:p.Glu443Val missense NM_001408425.1:c.1325A>T NP_001395354.1:p.Glu442Val missense NM_001408426.1:c.1325A>T NP_001395355.1:p.Glu442Val missense NM_001408427.1:c.1325A>T NP_001395356.1:p.Glu442Val missense NM_001408428.1:c.1325A>T NP_001395357.1:p.Glu442Val missense NM_001408429.1:c.1325A>T NP_001395358.1:p.Glu442Val missense NM_001408430.1:c.1325A>T NP_001395359.1:p.Glu442Val missense NM_001408431.1:c.1325A>T NP_001395360.1:p.Glu442Val missense NM_001408432.1:c.1322A>T NP_001395361.1:p.Glu441Val missense NM_001408433.1:c.1322A>T NP_001395362.1:p.Glu441Val missense NM_001408434.1:c.1322A>T NP_001395363.1:p.Glu441Val missense NM_001408435.1:c.1322A>T NP_001395364.1:p.Glu441Val missense NM_001408436.1:c.1322A>T NP_001395365.1:p.Glu441Val missense NM_001408437.1:c.1322A>T NP_001395366.1:p.Glu441Val missense NM_001408438.1:c.1322A>T NP_001395367.1:p.Glu441Val missense NM_001408439.1:c.1322A>T NP_001395368.1:p.Glu441Val missense NM_001408440.1:c.1322A>T NP_001395369.1:p.Glu441Val missense NM_001408441.1:c.1322A>T NP_001395370.1:p.Glu441Val missense NM_001408442.1:c.1322A>T NP_001395371.1:p.Glu441Val missense NM_001408443.1:c.1322A>T NP_001395372.1:p.Glu441Val missense NM_001408444.1:c.1322A>T NP_001395373.1:p.Glu441Val missense NM_001408445.1:c.1319A>T NP_001395374.1:p.Glu440Val missense NM_001408446.1:c.1319A>T NP_001395375.1:p.Glu440Val missense NM_001408447.1:c.1319A>T NP_001395376.1:p.Glu440Val missense NM_001408448.1:c.1319A>T NP_001395377.1:p.Glu440Val missense NM_001408450.1:c.1319A>T NP_001395379.1:p.Glu440Val missense NM_001408451.1:c.1313A>T NP_001395380.1:p.Glu438Val missense NM_001408452.1:c.1307A>T NP_001395381.1:p.Glu436Val missense NM_001408453.1:c.1307A>T NP_001395382.1:p.Glu436Val missense NM_001408454.1:c.1307A>T NP_001395383.1:p.Glu436Val missense NM_001408455.1:c.1307A>T NP_001395384.1:p.Glu436Val missense NM_001408456.1:c.1307A>T NP_001395385.1:p.Glu436Val missense NM_001408457.1:c.1307A>T NP_001395386.1:p.Glu436Val missense NM_001408458.1:c.1304A>T NP_001395387.1:p.Glu435Val missense NM_001408459.1:c.1304A>T NP_001395388.1:p.Glu435Val missense NM_001408460.1:c.1304A>T NP_001395389.1:p.Glu435Val missense NM_001408461.1:c.1304A>T NP_001395390.1:p.Glu435Val missense NM_001408462.1:c.1304A>T NP_001395391.1:p.Glu435Val missense NM_001408463.1:c.1304A>T NP_001395392.1:p.Glu435Val missense NM_001408464.1:c.1304A>T NP_001395393.1:p.Glu435Val missense NM_001408465.1:c.1304A>T NP_001395394.1:p.Glu435Val missense NM_001408466.1:c.1304A>T NP_001395395.1:p.Glu435Val missense NM_001408467.1:c.1304A>T NP_001395396.1:p.Glu435Val missense NM_001408468.1:c.1301A>T NP_001395397.1:p.Glu434Val missense NM_001408469.1:c.1301A>T NP_001395398.1:p.Glu434Val missense NM_001408470.1:c.1301A>T NP_001395399.1:p.Glu434Val missense NM_001408472.1:c.1445A>T NP_001395401.1:p.Glu482Val missense NM_001408473.1:c.1442A>T NP_001395402.1:p.Glu481Val missense NM_001408474.1:c.1247A>T NP_001395403.1:p.Glu416Val missense NM_001408475.1:c.1244A>T NP_001395404.1:p.Glu415Val missense NM_001408476.1:c.1244A>T NP_001395405.1:p.Glu415Val missense NM_001408478.1:c.1238A>T NP_001395407.1:p.Glu413Val missense NM_001408479.1:c.1238A>T NP_001395408.1:p.Glu413Val missense NM_001408480.1:c.1238A>T NP_001395409.1:p.Glu413Val missense NM_001408481.1:c.1235A>T NP_001395410.1:p.Glu412Val missense NM_001408482.1:c.1235A>T NP_001395411.1:p.Glu412Val missense NM_001408483.1:c.1235A>T NP_001395412.1:p.Glu412Val missense NM_001408484.1:c.1235A>T NP_001395413.1:p.Glu412Val missense NM_001408485.1:c.1235A>T NP_001395414.1:p.Glu412Val missense NM_001408489.1:c.1235A>T NP_001395418.1:p.Glu412Val missense NM_001408490.1:c.1235A>T NP_001395419.1:p.Glu412Val missense NM_001408491.1:c.1235A>T NP_001395420.1:p.Glu412Val missense NM_001408492.1:c.1232A>T NP_001395421.1:p.Glu411Val missense NM_001408493.1:c.1232A>T NP_001395422.1:p.Glu411Val missense NM_001408494.1:c.1208A>T NP_001395423.1:p.Glu403Val missense NM_001408495.1:c.1202A>T NP_001395424.1:p.Glu401Val missense NM_001408496.1:c.1184A>T NP_001395425.1:p.Glu395Val missense NM_001408497.1:c.1184A>T NP_001395426.1:p.Glu395Val missense NM_001408498.1:c.1184A>T NP_001395427.1:p.Glu395Val missense NM_001408499.1:c.1184A>T NP_001395428.1:p.Glu395Val missense NM_001408500.1:c.1184A>T NP_001395429.1:p.Glu395Val missense NM_001408501.1:c.1184A>T NP_001395430.1:p.Glu395Val missense NM_001408502.1:c.1181A>T NP_001395431.1:p.Glu394Val missense NM_001408503.1:c.1181A>T NP_001395432.1:p.Glu394Val missense NM_001408504.1:c.1181A>T NP_001395433.1:p.Glu394Val missense NM_001408505.1:c.1178A>T NP_001395434.1:p.Glu393Val missense NM_001408506.1:c.1121A>T NP_001395435.1:p.Glu374Val missense NM_001408507.1:c.1118A>T NP_001395436.1:p.Glu373Val missense NM_001408508.1:c.1109A>T NP_001395437.1:p.Glu370Val missense NM_001408509.1:c.1106A>T NP_001395438.1:p.Glu369Val missense NM_001408510.1:c.1067A>T NP_001395439.1:p.Glu356Val missense NM_001408511.1:c.1064A>T NP_001395440.1:p.Glu355Val missense NM_001408512.1:c.944A>T NP_001395441.1:p.Glu315Val missense NM_001408513.1:c.917A>T NP_001395442.1:p.Glu306Val missense NM_001408514.1:c.839-7206A>T intron variant NM_007297.4:c.4616A>T NP_009228.2:p.Glu1539Val missense NM_007298.4:c.1445A>T NP_009229.2:p.Glu482Val missense NM_007299.4:c.1445A>T NP_009230.2:p.Glu482Val missense NM_007300.4:c.4820A>T NP_009231.2:p.Glu1607Val missense NM_007304.2:c.1445A>T NP_009235.2:p.Glu482Val missense NR_027676.2:n.4934A>T NC_000017.11:g.43071157T>A NC_000017.10:g.41223174T>A NG_005905.2:g.146827A>T LRG_292:g.146827A>T LRG_292t1:c.4757A>T LRG_292p1:p.Glu1586Val - Protein change
- E1457V, E1475V, E1496V, E1544V, E1558V, E1560V, E1582V, E1585V, E1607V, E369V, E374V, E393V, E416V, E436V, E438V, E442V, E457V, E458V, E480V, E482V, E504V, E717V, E1289V, E1459V, E1497V, E1515V, E1517V, E1567V, E1581V, E1586V, E1608V, E315V, E355V, E370V, E403V, E411V, E413V, E435V, E441V, E479V, E505V, E1417V, E1473V, E1474V, E1514V, E1516V, E1519V, E1537V, E1539V, E1545V, E1566V, E1584V, E1606V, E356V, E373V, E394V, E401V, E412V, E415V, E434V, E440V, E444V, E481V, E1432V, E1458V, E1498V, E1538V, E1542V, E1543V, E1559V, E1583V, E306V, E395V, E443V, E456V, E483V, E718V, E1290V
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071156: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 |
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
|
May 16, 2023 | RCV003301833.2 |
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
(May 16, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV004004351.2
First in ClinVar: Jul 08, 2023 Last updated: May 01, 2024 |
Comment:
The p.E1586V variant (also known as c.4757A>T), located in coding exon 14 of the BRCA1 gene, results from an A to T substitution at nucleotide … (more)
The p.E1586V variant (also known as c.4757A>T), located in coding exon 14 of the BRCA1 gene, results from an A to T substitution at nucleotide position 4757. The glutamic acid at codon 1586 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
|
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:
The p.E1586V variant (also known as c.4757A>T), located in coding exon 14 of the BRCA1 gene, results from an A to T substitution at nucleotide position 4757. The glutamic acid at codon 1586 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
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 this variant ...
HelpRecord last updated May 01, 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.