ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4305C>G (p.Asp1435Glu)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4305C>G (p.Asp1435Glu)
Variation ID: 182080 Accession: VCV000182080.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43082456 (GRCh38) [ NCBI UCSC ] 17: 41234473 (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 Feb 24, 2015 Feb 24, 2015 Oct 3, 2014 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4305C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp1435Glu missense NM_001407571.1:c.4092C>G NP_001394500.1:p.Asp1364Glu missense NM_001407581.1:c.4305C>G NP_001394510.1:p.Asp1435Glu missense NM_001407582.1:c.4305C>G NP_001394511.1:p.Asp1435Glu missense NM_001407583.1:c.4305C>G NP_001394512.1:p.Asp1435Glu missense NM_001407585.1:c.4305C>G NP_001394514.1:p.Asp1435Glu missense NM_001407587.1:c.4302C>G NP_001394516.1:p.Asp1434Glu missense NM_001407590.1:c.4302C>G NP_001394519.1:p.Asp1434Glu missense NM_001407591.1:c.4302C>G NP_001394520.1:p.Asp1434Glu missense NM_001407593.1:c.4305C>G NP_001394522.1:p.Asp1435Glu missense NM_001407594.1:c.4305C>G NP_001394523.1:p.Asp1435Glu missense NM_001407596.1:c.4305C>G NP_001394525.1:p.Asp1435Glu missense NM_001407597.1:c.4305C>G NP_001394526.1:p.Asp1435Glu missense NM_001407598.1:c.4305C>G NP_001394527.1:p.Asp1435Glu missense NM_001407602.1:c.4305C>G NP_001394531.1:p.Asp1435Glu missense NM_001407603.1:c.4305C>G NP_001394532.1:p.Asp1435Glu missense NM_001407605.1:c.4305C>G NP_001394534.1:p.Asp1435Glu missense NM_001407610.1:c.4302C>G NP_001394539.1:p.Asp1434Glu missense NM_001407611.1:c.4302C>G NP_001394540.1:p.Asp1434Glu missense NM_001407612.1:c.4302C>G NP_001394541.1:p.Asp1434Glu missense NM_001407613.1:c.4302C>G NP_001394542.1:p.Asp1434Glu missense NM_001407614.1:c.4302C>G NP_001394543.1:p.Asp1434Glu missense NM_001407615.1:c.4302C>G NP_001394544.1:p.Asp1434Glu missense NM_001407616.1:c.4305C>G NP_001394545.1:p.Asp1435Glu missense NM_001407617.1:c.4305C>G NP_001394546.1:p.Asp1435Glu missense NM_001407618.1:c.4305C>G NP_001394547.1:p.Asp1435Glu missense NM_001407619.1:c.4305C>G NP_001394548.1:p.Asp1435Glu missense NM_001407620.1:c.4305C>G NP_001394549.1:p.Asp1435Glu missense NM_001407621.1:c.4305C>G NP_001394550.1:p.Asp1435Glu missense NM_001407622.1:c.4305C>G NP_001394551.1:p.Asp1435Glu missense NM_001407623.1:c.4305C>G NP_001394552.1:p.Asp1435Glu missense NM_001407624.1:c.4302C>G NP_001394553.1:p.Asp1434Glu missense NM_001407625.1:c.4302C>G NP_001394554.1:p.Asp1434Glu missense NM_001407626.1:c.4302C>G NP_001394555.1:p.Asp1434Glu missense NM_001407627.1:c.4299C>G NP_001394556.1:p.Asp1433Glu missense NM_001407628.1:c.4299C>G NP_001394557.1:p.Asp1433Glu missense NM_001407629.1:c.4299C>G NP_001394558.1:p.Asp1433Glu missense NM_001407630.1:c.4299C>G NP_001394559.1:p.Asp1433Glu missense NM_001407631.1:c.4299C>G NP_001394560.1:p.Asp1433Glu missense NM_001407632.1:c.4299C>G NP_001394561.1:p.Asp1433Glu missense NM_001407633.1:c.4302C>G NP_001394562.1:p.Asp1434Glu missense NM_001407634.1:c.4302C>G NP_001394563.1:p.Asp1434Glu missense NM_001407635.1:c.4302C>G NP_001394564.1:p.Asp1434Glu missense NM_001407636.1:c.4302C>G NP_001394565.1:p.Asp1434Glu missense NM_001407637.1:c.4302C>G NP_001394566.1:p.Asp1434Glu missense NM_001407638.1:c.4302C>G NP_001394567.1:p.Asp1434Glu missense NM_001407639.1:c.4302C>G NP_001394568.1:p.Asp1434Glu missense NM_001407640.1:c.4302C>G NP_001394569.1:p.Asp1434Glu missense NM_001407641.1:c.4302C>G NP_001394570.1:p.Asp1434Glu missense NM_001407642.1:c.4302C>G NP_001394571.1:p.Asp1434Glu missense NM_001407644.1:c.4299C>G NP_001394573.1:p.Asp1433Glu missense NM_001407645.1:c.4299C>G NP_001394574.1:p.Asp1433Glu missense NM_001407646.1:c.4293C>G NP_001394575.1:p.Asp1431Glu missense NM_001407647.1:c.4293C>G NP_001394576.1:p.Asp1431Glu missense NM_001407648.1:c.4182C>G NP_001394577.1:p.Asp1394Glu missense NM_001407649.1:c.4179C>G NP_001394578.1:p.Asp1393Glu missense NM_001407652.1:c.4305C>G NP_001394581.1:p.Asp1435Glu missense NM_001407653.1:c.4227C>G NP_001394582.1:p.Asp1409Glu missense NM_001407654.1:c.4227C>G NP_001394583.1:p.Asp1409Glu missense NM_001407655.1:c.4227C>G NP_001394584.1:p.Asp1409Glu missense NM_001407656.1:c.4224C>G NP_001394585.1:p.Asp1408Glu missense NM_001407657.1:c.4227C>G NP_001394586.1:p.Asp1409Glu missense NM_001407658.1:c.4227C>G NP_001394587.1:p.Asp1409Glu missense NM_001407659.1:c.4221C>G NP_001394588.1:p.Asp1407Glu missense NM_001407660.1:c.4221C>G NP_001394589.1:p.Asp1407Glu missense NM_001407661.1:c.4224C>G NP_001394590.1:p.Asp1408Glu missense NM_001407662.1:c.4224C>G NP_001394591.1:p.Asp1408Glu missense NM_001407663.1:c.4224C>G NP_001394592.1:p.Asp1408Glu missense NM_001407664.1:c.4182C>G NP_001394593.1:p.Asp1394Glu missense NM_001407665.1:c.4182C>G NP_001394594.1:p.Asp1394Glu missense NM_001407666.1:c.4182C>G NP_001394595.1:p.Asp1394Glu missense NM_001407667.1:c.4182C>G NP_001394596.1:p.Asp1394Glu missense NM_001407668.1:c.4182C>G NP_001394597.1:p.Asp1394Glu missense NM_001407669.1:c.4182C>G NP_001394598.1:p.Asp1394Glu missense NM_001407670.1:c.4179C>G NP_001394599.1:p.Asp1393Glu missense NM_001407671.1:c.4179C>G NP_001394600.1:p.Asp1393Glu missense NM_001407672.1:c.4179C>G NP_001394601.1:p.Asp1393Glu missense NM_001407673.1:c.4179C>G NP_001394602.1:p.Asp1393Glu missense NM_001407674.1:c.4179C>G NP_001394603.1:p.Asp1393Glu missense NM_001407675.1:c.4179C>G NP_001394604.1:p.Asp1393Glu missense NM_001407676.1:c.4179C>G NP_001394605.1:p.Asp1393Glu missense NM_001407677.1:c.4182C>G NP_001394606.1:p.Asp1394Glu missense NM_001407678.1:c.4182C>G NP_001394607.1:p.Asp1394Glu missense NM_001407679.1:c.4182C>G NP_001394608.1:p.Asp1394Glu missense NM_001407680.1:c.4182C>G NP_001394609.1:p.Asp1394Glu missense NM_001407681.1:c.4179C>G NP_001394610.1:p.Asp1393Glu missense NM_001407682.1:c.4179C>G NP_001394611.1:p.Asp1393Glu missense NM_001407683.1:c.4179C>G NP_001394612.1:p.Asp1393Glu missense NM_001407684.1:c.4305C>G NP_001394613.1:p.Asp1435Glu missense NM_001407685.1:c.4176C>G NP_001394614.1:p.Asp1392Glu missense NM_001407686.1:c.4176C>G NP_001394615.1:p.Asp1392Glu missense NM_001407687.1:c.4176C>G NP_001394616.1:p.Asp1392Glu missense NM_001407688.1:c.4179C>G NP_001394617.1:p.Asp1393Glu missense NM_001407689.1:c.4179C>G NP_001394618.1:p.Asp1393Glu missense NM_001407690.1:c.4176C>G NP_001394619.1:p.Asp1392Glu missense NM_001407691.1:c.4176C>G NP_001394620.1:p.Asp1392Glu missense NM_001407692.1:c.4164C>G NP_001394621.1:p.Asp1388Glu missense NM_001407694.1:c.4164C>G NP_001394623.1:p.Asp1388Glu missense NM_001407695.1:c.4164C>G NP_001394624.1:p.Asp1388Glu missense NM_001407696.1:c.4164C>G NP_001394625.1:p.Asp1388Glu missense NM_001407697.1:c.4164C>G NP_001394626.1:p.Asp1388Glu missense NM_001407698.1:c.4164C>G NP_001394627.1:p.Asp1388Glu missense NM_001407724.1:c.4164C>G NP_001394653.1:p.Asp1388Glu missense NM_001407725.1:c.4164C>G NP_001394654.1:p.Asp1388Glu missense NM_001407726.1:c.4164C>G NP_001394655.1:p.Asp1388Glu missense NM_001407727.1:c.4164C>G NP_001394656.1:p.Asp1388Glu missense NM_001407728.1:c.4164C>G NP_001394657.1:p.Asp1388Glu missense NM_001407729.1:c.4164C>G NP_001394658.1:p.Asp1388Glu missense NM_001407730.1:c.4164C>G NP_001394659.1:p.Asp1388Glu missense NM_001407731.1:c.4164C>G NP_001394660.1:p.Asp1388Glu missense NM_001407732.1:c.4164C>G NP_001394661.1:p.Asp1388Glu missense NM_001407733.1:c.4164C>G NP_001394662.1:p.Asp1388Glu missense NM_001407734.1:c.4164C>G NP_001394663.1:p.Asp1388Glu missense NM_001407735.1:c.4164C>G NP_001394664.1:p.Asp1388Glu missense NM_001407736.1:c.4164C>G NP_001394665.1:p.Asp1388Glu missense NM_001407737.1:c.4164C>G NP_001394666.1:p.Asp1388Glu missense NM_001407738.1:c.4164C>G NP_001394667.1:p.Asp1388Glu missense NM_001407739.1:c.4164C>G NP_001394668.1:p.Asp1388Glu missense NM_001407740.1:c.4161C>G NP_001394669.1:p.Asp1387Glu missense NM_001407741.1:c.4161C>G NP_001394670.1:p.Asp1387Glu missense NM_001407742.1:c.4161C>G NP_001394671.1:p.Asp1387Glu missense NM_001407743.1:c.4161C>G NP_001394672.1:p.Asp1387Glu missense NM_001407744.1:c.4161C>G NP_001394673.1:p.Asp1387Glu missense NM_001407745.1:c.4161C>G NP_001394674.1:p.Asp1387Glu missense NM_001407746.1:c.4161C>G NP_001394675.1:p.Asp1387Glu missense NM_001407747.1:c.4161C>G NP_001394676.1:p.Asp1387Glu missense NM_001407748.1:c.4161C>G NP_001394677.1:p.Asp1387Glu missense NM_001407749.1:c.4161C>G NP_001394678.1:p.Asp1387Glu missense NM_001407750.1:c.4161C>G NP_001394679.1:p.Asp1387Glu missense NM_001407751.1:c.4161C>G NP_001394680.1:p.Asp1387Glu missense NM_001407752.1:c.4161C>G NP_001394681.1:p.Asp1387Glu missense NM_001407838.1:c.4161C>G NP_001394767.1:p.Asp1387Glu missense NM_001407839.1:c.4161C>G NP_001394768.1:p.Asp1387Glu missense NM_001407841.1:c.4161C>G NP_001394770.1:p.Asp1387Glu missense NM_001407842.1:c.4161C>G NP_001394771.1:p.Asp1387Glu missense NM_001407843.1:c.4161C>G NP_001394772.1:p.Asp1387Glu missense NM_001407844.1:c.4161C>G NP_001394773.1:p.Asp1387Glu missense NM_001407845.1:c.4161C>G NP_001394774.1:p.Asp1387Glu missense NM_001407846.1:c.4161C>G NP_001394775.1:p.Asp1387Glu missense NM_001407847.1:c.4158C>G NP_001394776.1:p.Asp1386Glu missense NM_001407848.1:c.4158C>G NP_001394777.1:p.Asp1386Glu missense NM_001407849.1:c.4158C>G NP_001394778.1:p.Asp1386Glu missense NM_001407850.1:c.4161C>G NP_001394779.1:p.Asp1387Glu missense NM_001407851.1:c.4161C>G NP_001394780.1:p.Asp1387Glu missense NM_001407852.1:c.4161C>G NP_001394781.1:p.Asp1387Glu missense NM_001407853.1:c.4092C>G NP_001394782.1:p.Asp1364Glu missense NM_001407854.1:c.4305C>G NP_001394783.1:p.Asp1435Glu missense NM_001407858.1:c.4305C>G NP_001394787.1:p.Asp1435Glu missense NM_001407859.1:c.4305C>G NP_001394788.1:p.Asp1435Glu missense NM_001407860.1:c.4302C>G NP_001394789.1:p.Asp1434Glu missense NM_001407861.1:c.4302C>G NP_001394790.1:p.Asp1434Glu missense NM_001407862.1:c.4104C>G NP_001394791.1:p.Asp1368Glu missense NM_001407863.1:c.4182C>G NP_001394792.1:p.Asp1394Glu missense NM_001407874.1:c.4101C>G NP_001394803.1:p.Asp1367Glu missense NM_001407875.1:c.4101C>G NP_001394804.1:p.Asp1367Glu missense NM_001407879.1:c.4095C>G NP_001394808.1:p.Asp1365Glu missense NM_001407881.1:c.4095C>G NP_001394810.1:p.Asp1365Glu missense NM_001407882.1:c.4095C>G NP_001394811.1:p.Asp1365Glu missense NM_001407884.1:c.4095C>G NP_001394813.1:p.Asp1365Glu missense NM_001407885.1:c.4095C>G NP_001394814.1:p.Asp1365Glu missense NM_001407886.1:c.4095C>G NP_001394815.1:p.Asp1365Glu missense NM_001407887.1:c.4095C>G NP_001394816.1:p.Asp1365Glu missense NM_001407889.1:c.4095C>G NP_001394818.1:p.Asp1365Glu missense NM_001407894.1:c.4092C>G NP_001394823.1:p.Asp1364Glu missense NM_001407895.1:c.4092C>G NP_001394824.1:p.Asp1364Glu missense NM_001407896.1:c.4092C>G NP_001394825.1:p.Asp1364Glu missense NM_001407897.1:c.4092C>G NP_001394826.1:p.Asp1364Glu missense NM_001407898.1:c.4092C>G NP_001394827.1:p.Asp1364Glu missense NM_001407899.1:c.4092C>G NP_001394828.1:p.Asp1364Glu missense NM_001407900.1:c.4095C>G NP_001394829.1:p.Asp1365Glu missense NM_001407902.1:c.4095C>G NP_001394831.1:p.Asp1365Glu missense NM_001407904.1:c.4095C>G NP_001394833.1:p.Asp1365Glu missense NM_001407906.1:c.4095C>G NP_001394835.1:p.Asp1365Glu missense NM_001407907.1:c.4092C>G NP_001394836.1:p.Asp1364Glu missense NM_001407908.1:c.4092C>G NP_001394837.1:p.Asp1364Glu missense NM_001407909.1:c.4092C>G NP_001394838.1:p.Asp1364Glu missense NM_001407910.1:c.4092C>G NP_001394839.1:p.Asp1364Glu missense NM_001407915.1:c.4089C>G NP_001394844.1:p.Asp1363Glu missense NM_001407916.1:c.4092C>G NP_001394845.1:p.Asp1364Glu missense NM_001407917.1:c.4092C>G NP_001394846.1:p.Asp1364Glu missense NM_001407918.1:c.4092C>G NP_001394847.1:p.Asp1364Glu missense NM_001407919.1:c.4182C>G NP_001394848.1:p.Asp1394Glu missense NM_001407920.1:c.4041C>G NP_001394849.1:p.Asp1347Glu missense NM_001407921.1:c.4041C>G NP_001394850.1:p.Asp1347Glu missense NM_001407922.1:c.4041C>G NP_001394851.1:p.Asp1347Glu missense NM_001407923.1:c.4041C>G NP_001394852.1:p.Asp1347Glu missense NM_001407924.1:c.4041C>G NP_001394853.1:p.Asp1347Glu missense NM_001407925.1:c.4041C>G NP_001394854.1:p.Asp1347Glu missense NM_001407926.1:c.4041C>G NP_001394855.1:p.Asp1347Glu missense NM_001407927.1:c.4041C>G NP_001394856.1:p.Asp1347Glu missense NM_001407928.1:c.4041C>G NP_001394857.1:p.Asp1347Glu missense NM_001407929.1:c.4041C>G NP_001394858.1:p.Asp1347Glu missense NM_001407930.1:c.4038C>G NP_001394859.1:p.Asp1346Glu missense NM_001407931.1:c.4038C>G NP_001394860.1:p.Asp1346Glu missense NM_001407932.1:c.4038C>G NP_001394861.1:p.Asp1346Glu missense NM_001407933.1:c.4038C>G NP_001394862.1:p.Asp1346Glu missense NM_001407934.1:c.4035C>G NP_001394863.1:p.Asp1345Glu missense NM_001407935.1:c.4038C>G NP_001394864.1:p.Asp1346Glu missense NM_001407936.1:c.4038C>G NP_001394865.1:p.Asp1346Glu missense NM_001407937.1:c.4182C>G NP_001394866.1:p.Asp1394Glu missense NM_001407938.1:c.4182C>G NP_001394867.1:p.Asp1394Glu missense NM_001407939.1:c.4182C>G NP_001394868.1:p.Asp1394Glu missense NM_001407940.1:c.4179C>G NP_001394869.1:p.Asp1393Glu missense NM_001407941.1:c.4179C>G NP_001394870.1:p.Asp1393Glu missense NM_001407942.1:c.4164C>G NP_001394871.1:p.Asp1388Glu missense NM_001407943.1:c.4161C>G NP_001394872.1:p.Asp1387Glu missense NM_001407944.1:c.4164C>G NP_001394873.1:p.Asp1388Glu missense NM_001407945.1:c.4164C>G NP_001394874.1:p.Asp1388Glu missense NM_001407946.1:c.3972C>G NP_001394875.1:p.Asp1324Glu missense NM_001407947.1:c.3972C>G NP_001394876.1:p.Asp1324Glu missense NM_001407948.1:c.3972C>G NP_001394877.1:p.Asp1324Glu missense NM_001407949.1:c.3972C>G NP_001394878.1:p.Asp1324Glu missense NM_001407950.1:c.3972C>G NP_001394879.1:p.Asp1324Glu missense NM_001407951.1:c.3972C>G NP_001394880.1:p.Asp1324Glu missense NM_001407952.1:c.3969C>G NP_001394881.1:p.Asp1323Glu missense NM_001407953.1:c.3969C>G NP_001394882.1:p.Asp1323Glu missense NM_001407954.1:c.3969C>G NP_001394883.1:p.Asp1323Glu missense NM_001407955.1:c.3969C>G NP_001394884.1:p.Asp1323Glu missense NM_001407956.1:c.3966C>G NP_001394885.1:p.Asp1322Glu missense NM_001407957.1:c.3969C>G NP_001394886.1:p.Asp1323Glu missense NM_001407958.1:c.3969C>G NP_001394887.1:p.Asp1323Glu missense NM_001407959.1:c.3924C>G NP_001394888.1:p.Asp1308Glu missense NM_001407960.1:c.3924C>G NP_001394889.1:p.Asp1308Glu missense NM_001407962.1:c.3921C>G NP_001394891.1:p.Asp1307Glu missense NM_001407963.1:c.3921C>G NP_001394892.1:p.Asp1307Glu missense NM_001407964.1:c.4161C>G NP_001394893.1:p.Asp1387Glu missense NM_001407965.1:c.3798C>G NP_001394894.1:p.Asp1266Glu missense NM_001407966.1:c.3417C>G NP_001394895.1:p.Asp1139Glu missense NM_001407967.1:c.3417C>G NP_001394896.1:p.Asp1139Glu missense NM_001407968.1:c.1701C>G NP_001394897.1:p.Asp567Glu missense NM_001407969.1:c.1698C>G NP_001394898.1:p.Asp566Glu missense NM_001407970.1:c.996C>G NP_001394899.1:p.Asp332Glu missense NM_001407971.1:c.996C>G NP_001394900.1:p.Asp332Glu missense NM_001407972.1:c.993C>G NP_001394901.1:p.Asp331Glu missense NM_001407973.1:c.996C>G NP_001394902.1:p.Asp332Glu missense NM_001407974.1:c.996C>G NP_001394903.1:p.Asp332Glu missense NM_001407975.1:c.996C>G NP_001394904.1:p.Asp332Glu missense NM_001407976.1:c.996C>G NP_001394905.1:p.Asp332Glu missense NM_001407977.1:c.996C>G NP_001394906.1:p.Asp332Glu missense NM_001407978.1:c.996C>G NP_001394907.1:p.Asp332Glu missense NM_001407979.1:c.993C>G NP_001394908.1:p.Asp331Glu missense NM_001407980.1:c.993C>G NP_001394909.1:p.Asp331Glu missense NM_001407981.1:c.993C>G NP_001394910.1:p.Asp331Glu missense NM_001407982.1:c.993C>G NP_001394911.1:p.Asp331Glu missense NM_001407983.1:c.993C>G NP_001394912.1:p.Asp331Glu missense NM_001407984.1:c.993C>G NP_001394913.1:p.Asp331Glu missense NM_001407985.1:c.993C>G NP_001394914.1:p.Asp331Glu missense NM_001407986.1:c.993C>G NP_001394915.1:p.Asp331Glu missense NM_001407990.1:c.993C>G NP_001394919.1:p.Asp331Glu missense NM_001407991.1:c.993C>G NP_001394920.1:p.Asp331Glu missense NM_001407992.1:c.993C>G NP_001394921.1:p.Asp331Glu missense NM_001407993.1:c.996C>G NP_001394922.1:p.Asp332Glu missense NM_001408392.1:c.993C>G NP_001395321.1:p.Asp331Glu missense NM_001408396.1:c.993C>G NP_001395325.1:p.Asp331Glu missense NM_001408397.1:c.993C>G NP_001395326.1:p.Asp331Glu missense NM_001408398.1:c.993C>G NP_001395327.1:p.Asp331Glu missense NM_001408399.1:c.993C>G NP_001395328.1:p.Asp331Glu missense NM_001408400.1:c.990C>G NP_001395329.1:p.Asp330Glu missense NM_001408401.1:c.990C>G NP_001395330.1:p.Asp330Glu missense NM_001408402.1:c.990C>G NP_001395331.1:p.Asp330Glu missense NM_001408403.1:c.993C>G NP_001395332.1:p.Asp331Glu missense NM_001408404.1:c.993C>G NP_001395333.1:p.Asp331Glu missense NM_001408406.1:c.987C>G NP_001395335.1:p.Asp329Glu missense NM_001408407.1:c.990C>G NP_001395336.1:p.Asp330Glu missense NM_001408408.1:c.987C>G NP_001395337.1:p.Asp329Glu missense NM_001408409.1:c.918C>G NP_001395338.1:p.Asp306Glu missense NM_001408410.1:c.855C>G NP_001395339.1:p.Asp285Glu missense NM_001408411.1:c.918C>G NP_001395340.1:p.Asp306Glu missense NM_001408412.1:c.918C>G NP_001395341.1:p.Asp306Glu missense NM_001408413.1:c.915C>G NP_001395342.1:p.Asp305Glu missense NM_001408414.1:c.918C>G NP_001395343.1:p.Asp306Glu missense NM_001408415.1:c.918C>G NP_001395344.1:p.Asp306Glu missense NM_001408416.1:c.915C>G NP_001395345.1:p.Asp305Glu missense NM_001408418.1:c.879C>G NP_001395347.1:p.Asp293Glu missense NM_001408419.1:c.879C>G NP_001395348.1:p.Asp293Glu missense NM_001408420.1:c.879C>G NP_001395349.1:p.Asp293Glu missense NM_001408421.1:c.876C>G NP_001395350.1:p.Asp292Glu missense NM_001408422.1:c.879C>G NP_001395351.1:p.Asp293Glu missense NM_001408423.1:c.879C>G NP_001395352.1:p.Asp293Glu missense NM_001408424.1:c.876C>G NP_001395353.1:p.Asp292Glu missense NM_001408425.1:c.873C>G NP_001395354.1:p.Asp291Glu missense NM_001408426.1:c.873C>G NP_001395355.1:p.Asp291Glu missense NM_001408427.1:c.873C>G NP_001395356.1:p.Asp291Glu missense NM_001408428.1:c.873C>G NP_001395357.1:p.Asp291Glu missense NM_001408429.1:c.873C>G NP_001395358.1:p.Asp291Glu missense NM_001408430.1:c.873C>G NP_001395359.1:p.Asp291Glu missense NM_001408431.1:c.876C>G NP_001395360.1:p.Asp292Glu missense NM_001408432.1:c.870C>G NP_001395361.1:p.Asp290Glu missense NM_001408433.1:c.870C>G NP_001395362.1:p.Asp290Glu missense NM_001408434.1:c.870C>G NP_001395363.1:p.Asp290Glu missense NM_001408435.1:c.870C>G NP_001395364.1:p.Asp290Glu missense NM_001408436.1:c.873C>G NP_001395365.1:p.Asp291Glu missense NM_001408437.1:c.873C>G NP_001395366.1:p.Asp291Glu missense NM_001408438.1:c.873C>G NP_001395367.1:p.Asp291Glu missense NM_001408439.1:c.873C>G NP_001395368.1:p.Asp291Glu missense NM_001408440.1:c.873C>G NP_001395369.1:p.Asp291Glu missense NM_001408441.1:c.870C>G NP_001395370.1:p.Asp290Glu missense NM_001408442.1:c.870C>G NP_001395371.1:p.Asp290Glu missense NM_001408443.1:c.870C>G NP_001395372.1:p.Asp290Glu missense NM_001408444.1:c.870C>G NP_001395373.1:p.Asp290Glu missense NM_001408445.1:c.870C>G NP_001395374.1:p.Asp290Glu missense NM_001408446.1:c.870C>G NP_001395375.1:p.Asp290Glu missense NM_001408447.1:c.870C>G NP_001395376.1:p.Asp290Glu missense NM_001408448.1:c.870C>G NP_001395377.1:p.Asp290Glu missense NM_001408450.1:c.870C>G NP_001395379.1:p.Asp290Glu missense NM_001408451.1:c.861C>G NP_001395380.1:p.Asp287Glu missense NM_001408452.1:c.855C>G NP_001395381.1:p.Asp285Glu missense NM_001408453.1:c.855C>G NP_001395382.1:p.Asp285Glu missense NM_001408454.1:c.855C>G NP_001395383.1:p.Asp285Glu missense NM_001408455.1:c.855C>G NP_001395384.1:p.Asp285Glu missense NM_001408456.1:c.855C>G NP_001395385.1:p.Asp285Glu missense NM_001408457.1:c.855C>G NP_001395386.1:p.Asp285Glu missense NM_001408458.1:c.855C>G NP_001395387.1:p.Asp285Glu missense NM_001408459.1:c.855C>G NP_001395388.1:p.Asp285Glu missense NM_001408460.1:c.855C>G NP_001395389.1:p.Asp285Glu missense NM_001408461.1:c.855C>G NP_001395390.1:p.Asp285Glu missense NM_001408462.1:c.852C>G NP_001395391.1:p.Asp284Glu missense NM_001408463.1:c.852C>G NP_001395392.1:p.Asp284Glu missense NM_001408464.1:c.852C>G NP_001395393.1:p.Asp284Glu missense NM_001408465.1:c.852C>G NP_001395394.1:p.Asp284Glu missense NM_001408466.1:c.852C>G NP_001395395.1:p.Asp284Glu missense NM_001408467.1:c.852C>G NP_001395396.1:p.Asp284Glu missense NM_001408468.1:c.852C>G NP_001395397.1:p.Asp284Glu missense NM_001408469.1:c.852C>G NP_001395398.1:p.Asp284Glu missense NM_001408470.1:c.849C>G NP_001395399.1:p.Asp283Glu missense NM_001408472.1:c.993C>G NP_001395401.1:p.Asp331Glu missense NM_001408473.1:c.993C>G NP_001395402.1:p.Asp331Glu missense NM_001408474.1:c.795C>G NP_001395403.1:p.Asp265Glu missense NM_001408475.1:c.792C>G NP_001395404.1:p.Asp264Glu missense NM_001408476.1:c.795C>G NP_001395405.1:p.Asp265Glu missense NM_001408478.1:c.786C>G NP_001395407.1:p.Asp262Glu missense NM_001408479.1:c.786C>G NP_001395408.1:p.Asp262Glu missense NM_001408480.1:c.786C>G NP_001395409.1:p.Asp262Glu missense NM_001408481.1:c.786C>G NP_001395410.1:p.Asp262Glu missense NM_001408482.1:c.786C>G NP_001395411.1:p.Asp262Glu missense NM_001408483.1:c.786C>G NP_001395412.1:p.Asp262Glu missense NM_001408484.1:c.786C>G NP_001395413.1:p.Asp262Glu missense NM_001408485.1:c.786C>G NP_001395414.1:p.Asp262Glu missense NM_001408489.1:c.783C>G NP_001395418.1:p.Asp261Glu missense NM_001408490.1:c.783C>G NP_001395419.1:p.Asp261Glu missense NM_001408491.1:c.783C>G NP_001395420.1:p.Asp261Glu missense NM_001408492.1:c.783C>G NP_001395421.1:p.Asp261Glu missense NM_001408493.1:c.783C>G NP_001395422.1:p.Asp261Glu missense NM_001408494.1:c.756C>G NP_001395423.1:p.Asp252Glu missense NM_001408495.1:c.753C>G NP_001395424.1:p.Asp251Glu missense NM_001408496.1:c.732C>G NP_001395425.1:p.Asp244Glu missense NM_001408497.1:c.732C>G NP_001395426.1:p.Asp244Glu missense NM_001408498.1:c.732C>G NP_001395427.1:p.Asp244Glu missense NM_001408499.1:c.732C>G NP_001395428.1:p.Asp244Glu missense NM_001408500.1:c.732C>G NP_001395429.1:p.Asp244Glu missense NM_001408501.1:c.732C>G NP_001395430.1:p.Asp244Glu missense NM_001408502.1:c.663C>G NP_001395431.1:p.Asp221Glu missense NM_001408503.1:c.729C>G NP_001395432.1:p.Asp243Glu missense NM_001408504.1:c.729C>G NP_001395433.1:p.Asp243Glu missense NM_001408505.1:c.729C>G NP_001395434.1:p.Asp243Glu missense NM_001408506.1:c.669C>G NP_001395435.1:p.Asp223Glu missense NM_001408507.1:c.666C>G NP_001395436.1:p.Asp222Glu missense NM_001408508.1:c.657C>G NP_001395437.1:p.Asp219Glu missense NM_001408509.1:c.657C>G NP_001395438.1:p.Asp219Glu missense NM_001408510.1:c.615C>G NP_001395439.1:p.Asp205Glu missense NM_001408511.1:c.612C>G NP_001395440.1:p.Asp204Glu missense NM_001408512.1:c.492C>G NP_001395441.1:p.Asp164Glu missense NM_001408513.1:c.783C>G NP_001395442.1:p.Asp261Glu missense NM_001408514.1:c.786C>G NP_001395443.1:p.Asp262Glu missense NM_007297.4:c.4164C>G NP_009228.2:p.Asp1388Glu missense NM_007298.4:c.996C>G NP_009229.2:p.Asp332Glu missense NM_007299.4:c.996C>G NP_009230.2:p.Asp332Glu missense NM_007300.4:c.4305C>G NP_009231.2:p.Asp1435Glu missense NM_007304.2:c.996C>G NP_009235.2:p.Asp332Glu missense NR_027676.2:n.4482C>G non-coding transcript variant NC_000017.11:g.43082456G>C NC_000017.10:g.41234473G>C NG_005905.2:g.135528C>G LRG_292:g.135528C>G LRG_292t1:c.4305C>G LRG_292p1:p.Asp1435Glu - Protein change
- D1435E, D1388E, D332E, D1139E, D1266E, D1307E, D1346E, D1347E, D1368E, D1407E, D221E, D265E, D287E, D290E, D330E, D566E, D1308E, D1324E, D1365E, D1387E, D1392E, D1393E, D164E, D204E, D243E, D252E, D264E, D283E, D284E, D305E, D1323E, D1345E, D1363E, D1364E, D1408E, D1409E, D1431E, D1433E, D244E, D293E, D329E, D1322E, D1367E, D1386E, D1394E, D1434E, D205E, D219E, D222E, D223E, D251E, D261E, D262E, D285E, D291E, D292E, D306E, D331E, D567E
- Other names
- p.D1435E:GAC>GAG
- Canonical SPDI
- NC_000017.11:43082455:G:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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-
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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12894 | 14680 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (1) |
criteria provided, single submitter
|
Oct 3, 2014 | RCV000159851.2 |
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. |
|
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Uncertain significance
(Oct 03, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000209895.9
First in ClinVar: Feb 24, 2015 Last updated: Feb 24, 2015 |
Comment:
This variant is denoted BRCA1 c.4305C>G at the cDNA level, p.Asp1435Glu (D1435E) at the protein level, and results in the change of an Aspartic Acid … (more)
This variant is denoted BRCA1 c.4305C>G at the cDNA level, p.Asp1435Glu (D1435E) at the protein level, and results in the change of an Aspartic Acid to a Glutamic Acid (GAC>GAG). This variant, also known as 4424C>G using alternate nomenclature, has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Asp1435Glu was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Aspartic Acid and Glutamic Acid share similar properties, this is considered a conservative amino acid substitution. BRCA1 Asp1435Glu occurs at a position that is poorly conserved across species and is located in the SCD domain (Roy 2012). In silico analyses predict that this variant is unlikely to alter protein structure or function; however, splicing models predict that this variant may result in a cryptic splice donor site upstream of the natural splice donor site that may impact splicing. Based on currently available information, it is unclear whether BRCA1 Asp1435Glu is pathogenic or benign. We consider it to be 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 rs730881445 ...
HelpRecord last updated Mar 26, 2023
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.