The c.4744G>A (p.D1582N) alteration is located in exon 15 (coding exon 14) of the BRCA1 gene. This alteration results from a G to A substitution at nucleotide position 4744, causing the aspartic acid (D) at amino acid position 1582 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4744G>A (p.Asp1582Asn)
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
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NM_007294.4(BRCA1):c.4744G>A (p.Asp1582Asn)
Variation ID: 1742791 Accession: VCV001742791.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43071170 (GRCh38) [ NCBI UCSC ] 17: 41223187 (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 Nov 29, 2022 May 1, 2024 Mar 1, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4744G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp1582Asn missense NM_001407571.1:c.4531G>A NP_001394500.1:p.Asp1511Asn missense NM_001407581.1:c.4810G>A NP_001394510.1:p.Asp1604Asn missense NM_001407582.1:c.4810G>A NP_001394511.1:p.Asp1604Asn missense NM_001407583.1:c.4807G>A NP_001394512.1:p.Asp1603Asn missense NM_001407585.1:c.4807G>A NP_001394514.1:p.Asp1603Asn missense NM_001407587.1:c.4807G>A NP_001394516.1:p.Asp1603Asn missense NM_001407590.1:c.4804G>A NP_001394519.1:p.Asp1602Asn missense NM_001407591.1:c.4804G>A NP_001394520.1:p.Asp1602Asn missense NM_001407593.1:c.4744G>A NP_001394522.1:p.Asp1582Asn missense NM_001407594.1:c.4744G>A NP_001394523.1:p.Asp1582Asn missense NM_001407596.1:c.4744G>A NP_001394525.1:p.Asp1582Asn missense NM_001407597.1:c.4744G>A NP_001394526.1:p.Asp1582Asn missense NM_001407598.1:c.4744G>A NP_001394527.1:p.Asp1582Asn missense NM_001407602.1:c.4744G>A NP_001394531.1:p.Asp1582Asn missense NM_001407603.1:c.4744G>A NP_001394532.1:p.Asp1582Asn missense NM_001407605.1:c.4744G>A NP_001394534.1:p.Asp1582Asn missense NM_001407610.1:c.4741G>A NP_001394539.1:p.Asp1581Asn missense NM_001407611.1:c.4741G>A NP_001394540.1:p.Asp1581Asn missense NM_001407612.1:c.4741G>A NP_001394541.1:p.Asp1581Asn missense NM_001407613.1:c.4741G>A NP_001394542.1:p.Asp1581Asn missense NM_001407614.1:c.4741G>A NP_001394543.1:p.Asp1581Asn missense NM_001407615.1:c.4741G>A NP_001394544.1:p.Asp1581Asn missense NM_001407616.1:c.4741G>A NP_001394545.1:p.Asp1581Asn missense NM_001407617.1:c.4741G>A NP_001394546.1:p.Asp1581Asn missense NM_001407618.1:c.4741G>A NP_001394547.1:p.Asp1581Asn missense NM_001407619.1:c.4741G>A NP_001394548.1:p.Asp1581Asn missense NM_001407620.1:c.4741G>A NP_001394549.1:p.Asp1581Asn missense NM_001407621.1:c.4741G>A NP_001394550.1:p.Asp1581Asn missense NM_001407622.1:c.4741G>A NP_001394551.1:p.Asp1581Asn missense NM_001407623.1:c.4741G>A NP_001394552.1:p.Asp1581Asn missense NM_001407624.1:c.4741G>A NP_001394553.1:p.Asp1581Asn missense NM_001407625.1:c.4741G>A NP_001394554.1:p.Asp1581Asn missense NM_001407626.1:c.4741G>A NP_001394555.1:p.Asp1581Asn missense NM_001407627.1:c.4738G>A NP_001394556.1:p.Asp1580Asn missense NM_001407628.1:c.4738G>A NP_001394557.1:p.Asp1580Asn missense NM_001407629.1:c.4738G>A NP_001394558.1:p.Asp1580Asn missense NM_001407630.1:c.4738G>A NP_001394559.1:p.Asp1580Asn missense NM_001407631.1:c.4738G>A NP_001394560.1:p.Asp1580Asn missense NM_001407632.1:c.4738G>A NP_001394561.1:p.Asp1580Asn missense NM_001407633.1:c.4738G>A NP_001394562.1:p.Asp1580Asn missense NM_001407634.1:c.4738G>A NP_001394563.1:p.Asp1580Asn missense NM_001407635.1:c.4738G>A NP_001394564.1:p.Asp1580Asn missense NM_001407636.1:c.4738G>A NP_001394565.1:p.Asp1580Asn missense NM_001407637.1:c.4738G>A NP_001394566.1:p.Asp1580Asn missense NM_001407638.1:c.4738G>A NP_001394567.1:p.Asp1580Asn missense NM_001407639.1:c.4738G>A NP_001394568.1:p.Asp1580Asn missense NM_001407640.1:c.4738G>A NP_001394569.1:p.Asp1580Asn missense NM_001407641.1:c.4738G>A NP_001394570.1:p.Asp1580Asn missense NM_001407642.1:c.4738G>A NP_001394571.1:p.Asp1580Asn missense NM_001407644.1:c.4735G>A NP_001394573.1:p.Asp1579Asn missense NM_001407645.1:c.4735G>A NP_001394574.1:p.Asp1579Asn missense NM_001407646.1:c.4732G>A NP_001394575.1:p.Asp1578Asn missense NM_001407647.1:c.4729G>A NP_001394576.1:p.Asp1577Asn missense NM_001407648.1:c.4687G>A NP_001394577.1:p.Asp1563Asn missense NM_001407649.1:c.4684G>A NP_001394578.1:p.Asp1562Asn missense NM_001407652.1:c.4744G>A NP_001394581.1:p.Asp1582Asn missense NM_001407653.1:c.4666G>A NP_001394582.1:p.Asp1556Asn missense NM_001407654.1:c.4666G>A NP_001394583.1:p.Asp1556Asn missense NM_001407655.1:c.4666G>A NP_001394584.1:p.Asp1556Asn missense NM_001407656.1:c.4663G>A NP_001394585.1:p.Asp1555Asn missense NM_001407657.1:c.4663G>A NP_001394586.1:p.Asp1555Asn missense NM_001407658.1:c.4663G>A NP_001394587.1:p.Asp1555Asn missense NM_001407659.1:c.4660G>A NP_001394588.1:p.Asp1554Asn missense NM_001407660.1:c.4660G>A NP_001394589.1:p.Asp1554Asn missense NM_001407661.1:c.4660G>A NP_001394590.1:p.Asp1554Asn missense NM_001407662.1:c.4660G>A NP_001394591.1:p.Asp1554Asn missense NM_001407663.1:c.4660G>A NP_001394592.1:p.Asp1554Asn missense NM_001407664.1:c.4621G>A NP_001394593.1:p.Asp1541Asn missense NM_001407665.1:c.4621G>A NP_001394594.1:p.Asp1541Asn missense NM_001407666.1:c.4621G>A NP_001394595.1:p.Asp1541Asn missense NM_001407667.1:c.4621G>A NP_001394596.1:p.Asp1541Asn missense NM_001407668.1:c.4621G>A NP_001394597.1:p.Asp1541Asn missense NM_001407669.1:c.4621G>A NP_001394598.1:p.Asp1541Asn missense NM_001407670.1:c.4618G>A NP_001394599.1:p.Asp1540Asn missense NM_001407671.1:c.4618G>A NP_001394600.1:p.Asp1540Asn missense NM_001407672.1:c.4618G>A NP_001394601.1:p.Asp1540Asn missense NM_001407673.1:c.4618G>A NP_001394602.1:p.Asp1540Asn missense NM_001407674.1:c.4618G>A NP_001394603.1:p.Asp1540Asn missense NM_001407675.1:c.4618G>A NP_001394604.1:p.Asp1540Asn missense NM_001407676.1:c.4618G>A NP_001394605.1:p.Asp1540Asn missense NM_001407677.1:c.4618G>A NP_001394606.1:p.Asp1540Asn missense NM_001407678.1:c.4618G>A NP_001394607.1:p.Asp1540Asn missense NM_001407679.1:c.4618G>A NP_001394608.1:p.Asp1540Asn missense NM_001407680.1:c.4618G>A NP_001394609.1:p.Asp1540Asn missense NM_001407681.1:c.4615G>A NP_001394610.1:p.Asp1539Asn missense NM_001407682.1:c.4615G>A NP_001394611.1:p.Asp1539Asn missense NM_001407683.1:c.4615G>A NP_001394612.1:p.Asp1539Asn missense NM_001407684.1:c.4744G>A NP_001394613.1:p.Asp1582Asn missense NM_001407685.1:c.4615G>A NP_001394614.1:p.Asp1539Asn missense NM_001407686.1:c.4615G>A NP_001394615.1:p.Asp1539Asn missense NM_001407687.1:c.4615G>A NP_001394616.1:p.Asp1539Asn missense NM_001407688.1:c.4615G>A NP_001394617.1:p.Asp1539Asn missense NM_001407689.1:c.4615G>A NP_001394618.1:p.Asp1539Asn missense NM_001407690.1:c.4612G>A NP_001394619.1:p.Asp1538Asn missense NM_001407691.1:c.4612G>A NP_001394620.1:p.Asp1538Asn missense NM_001407692.1:c.4603G>A NP_001394621.1:p.Asp1535Asn missense NM_001407694.1:c.4603G>A NP_001394623.1:p.Asp1535Asn missense NM_001407695.1:c.4603G>A NP_001394624.1:p.Asp1535Asn missense NM_001407696.1:c.4603G>A NP_001394625.1:p.Asp1535Asn missense NM_001407697.1:c.4603G>A NP_001394626.1:p.Asp1535Asn missense NM_001407698.1:c.4603G>A NP_001394627.1:p.Asp1535Asn missense NM_001407724.1:c.4603G>A NP_001394653.1:p.Asp1535Asn missense NM_001407725.1:c.4603G>A NP_001394654.1:p.Asp1535Asn missense NM_001407726.1:c.4603G>A NP_001394655.1:p.Asp1535Asn missense NM_001407727.1:c.4603G>A NP_001394656.1:p.Asp1535Asn missense NM_001407728.1:c.4603G>A NP_001394657.1:p.Asp1535Asn missense NM_001407729.1:c.4603G>A NP_001394658.1:p.Asp1535Asn missense NM_001407730.1:c.4603G>A NP_001394659.1:p.Asp1535Asn missense NM_001407731.1:c.4603G>A NP_001394660.1:p.Asp1535Asn missense NM_001407732.1:c.4600G>A NP_001394661.1:p.Asp1534Asn missense NM_001407733.1:c.4600G>A NP_001394662.1:p.Asp1534Asn missense NM_001407734.1:c.4600G>A NP_001394663.1:p.Asp1534Asn missense NM_001407735.1:c.4600G>A NP_001394664.1:p.Asp1534Asn missense NM_001407736.1:c.4600G>A NP_001394665.1:p.Asp1534Asn missense NM_001407737.1:c.4600G>A NP_001394666.1:p.Asp1534Asn missense NM_001407738.1:c.4600G>A NP_001394667.1:p.Asp1534Asn missense NM_001407739.1:c.4600G>A NP_001394668.1:p.Asp1534Asn missense NM_001407740.1:c.4600G>A NP_001394669.1:p.Asp1534Asn missense NM_001407741.1:c.4600G>A NP_001394670.1:p.Asp1534Asn missense NM_001407742.1:c.4600G>A NP_001394671.1:p.Asp1534Asn missense NM_001407743.1:c.4600G>A NP_001394672.1:p.Asp1534Asn missense NM_001407744.1:c.4600G>A NP_001394673.1:p.Asp1534Asn missense NM_001407745.1:c.4600G>A NP_001394674.1:p.Asp1534Asn missense NM_001407746.1:c.4600G>A NP_001394675.1:p.Asp1534Asn missense NM_001407747.1:c.4600G>A NP_001394676.1:p.Asp1534Asn missense NM_001407748.1:c.4600G>A NP_001394677.1:p.Asp1534Asn missense NM_001407749.1:c.4600G>A NP_001394678.1:p.Asp1534Asn missense NM_001407750.1:c.4600G>A NP_001394679.1:p.Asp1534Asn missense NM_001407751.1:c.4600G>A NP_001394680.1:p.Asp1534Asn missense NM_001407752.1:c.4600G>A NP_001394681.1:p.Asp1534Asn missense NM_001407838.1:c.4597G>A NP_001394767.1:p.Asp1533Asn missense NM_001407839.1:c.4597G>A NP_001394768.1:p.Asp1533Asn missense NM_001407841.1:c.4597G>A NP_001394770.1:p.Asp1533Asn missense NM_001407842.1:c.4597G>A NP_001394771.1:p.Asp1533Asn missense NM_001407843.1:c.4597G>A NP_001394772.1:p.Asp1533Asn missense NM_001407844.1:c.4597G>A NP_001394773.1:p.Asp1533Asn missense NM_001407845.1:c.4597G>A NP_001394774.1:p.Asp1533Asn missense NM_001407846.1:c.4597G>A NP_001394775.1:p.Asp1533Asn missense NM_001407847.1:c.4597G>A NP_001394776.1:p.Asp1533Asn missense NM_001407848.1:c.4597G>A NP_001394777.1:p.Asp1533Asn missense NM_001407849.1:c.4597G>A NP_001394778.1:p.Asp1533Asn missense NM_001407850.1:c.4597G>A NP_001394779.1:p.Asp1533Asn missense NM_001407851.1:c.4597G>A NP_001394780.1:p.Asp1533Asn missense NM_001407852.1:c.4597G>A NP_001394781.1:p.Asp1533Asn missense NM_001407853.1:c.4597G>A NP_001394782.1:p.Asp1533Asn missense NM_001407854.1:c.4744G>A NP_001394783.1:p.Asp1582Asn missense NM_001407858.1:c.4741G>A NP_001394787.1:p.Asp1581Asn missense NM_001407859.1:c.4741G>A NP_001394788.1:p.Asp1581Asn missense NM_001407860.1:c.4741G>A NP_001394789.1:p.Asp1581Asn missense NM_001407861.1:c.4738G>A NP_001394790.1:p.Asp1580Asn missense NM_001407862.1:c.4543G>A NP_001394791.1:p.Asp1515Asn missense NM_001407863.1:c.4618G>A NP_001394792.1:p.Asp1540Asn missense NM_001407874.1:c.4537G>A NP_001394803.1:p.Asp1513Asn missense NM_001407875.1:c.4537G>A NP_001394804.1:p.Asp1513Asn missense NM_001407879.1:c.4534G>A NP_001394808.1:p.Asp1512Asn missense NM_001407881.1:c.4534G>A NP_001394810.1:p.Asp1512Asn missense NM_001407882.1:c.4534G>A NP_001394811.1:p.Asp1512Asn missense NM_001407884.1:c.4534G>A NP_001394813.1:p.Asp1512Asn missense NM_001407885.1:c.4534G>A NP_001394814.1:p.Asp1512Asn missense NM_001407886.1:c.4534G>A NP_001394815.1:p.Asp1512Asn missense NM_001407887.1:c.4534G>A NP_001394816.1:p.Asp1512Asn missense NM_001407889.1:c.4534G>A NP_001394818.1:p.Asp1512Asn missense NM_001407894.1:c.4531G>A NP_001394823.1:p.Asp1511Asn missense NM_001407895.1:c.4531G>A NP_001394824.1:p.Asp1511Asn missense NM_001407896.1:c.4531G>A NP_001394825.1:p.Asp1511Asn missense NM_001407897.1:c.4531G>A NP_001394826.1:p.Asp1511Asn missense NM_001407898.1:c.4531G>A NP_001394827.1:p.Asp1511Asn missense NM_001407899.1:c.4531G>A NP_001394828.1:p.Asp1511Asn missense NM_001407900.1:c.4531G>A NP_001394829.1:p.Asp1511Asn missense NM_001407902.1:c.4531G>A NP_001394831.1:p.Asp1511Asn missense NM_001407904.1:c.4531G>A NP_001394833.1:p.Asp1511Asn missense NM_001407906.1:c.4531G>A NP_001394835.1:p.Asp1511Asn missense NM_001407907.1:c.4531G>A NP_001394836.1:p.Asp1511Asn missense NM_001407908.1:c.4531G>A NP_001394837.1:p.Asp1511Asn missense NM_001407909.1:c.4531G>A NP_001394838.1:p.Asp1511Asn missense NM_001407910.1:c.4531G>A NP_001394839.1:p.Asp1511Asn missense NM_001407915.1:c.4528G>A NP_001394844.1:p.Asp1510Asn missense NM_001407916.1:c.4528G>A NP_001394845.1:p.Asp1510Asn missense NM_001407917.1:c.4528G>A NP_001394846.1:p.Asp1510Asn missense NM_001407918.1:c.4528G>A NP_001394847.1:p.Asp1510Asn missense NM_001407919.1:c.4621G>A NP_001394848.1:p.Asp1541Asn missense NM_001407920.1:c.4480G>A NP_001394849.1:p.Asp1494Asn missense NM_001407921.1:c.4480G>A NP_001394850.1:p.Asp1494Asn missense NM_001407922.1:c.4480G>A NP_001394851.1:p.Asp1494Asn missense NM_001407923.1:c.4480G>A NP_001394852.1:p.Asp1494Asn missense NM_001407924.1:c.4480G>A NP_001394853.1:p.Asp1494Asn missense NM_001407925.1:c.4480G>A NP_001394854.1:p.Asp1494Asn missense NM_001407926.1:c.4480G>A NP_001394855.1:p.Asp1494Asn missense NM_001407927.1:c.4477G>A NP_001394856.1:p.Asp1493Asn missense NM_001407928.1:c.4477G>A NP_001394857.1:p.Asp1493Asn missense NM_001407929.1:c.4477G>A NP_001394858.1:p.Asp1493Asn missense NM_001407930.1:c.4477G>A NP_001394859.1:p.Asp1493Asn missense NM_001407931.1:c.4477G>A NP_001394860.1:p.Asp1493Asn missense NM_001407932.1:c.4477G>A NP_001394861.1:p.Asp1493Asn missense NM_001407933.1:c.4477G>A NP_001394862.1:p.Asp1493Asn missense NM_001407934.1:c.4474G>A NP_001394863.1:p.Asp1492Asn missense NM_001407935.1:c.4474G>A NP_001394864.1:p.Asp1492Asn missense NM_001407936.1:c.4474G>A NP_001394865.1:p.Asp1492Asn missense NM_001407937.1:c.4621G>A NP_001394866.1:p.Asp1541Asn missense NM_001407938.1:c.4621G>A NP_001394867.1:p.Asp1541Asn missense NM_001407939.1:c.4618G>A NP_001394868.1:p.Asp1540Asn missense NM_001407940.1:c.4618G>A NP_001394869.1:p.Asp1540Asn missense NM_001407941.1:c.4615G>A NP_001394870.1:p.Asp1539Asn missense NM_001407942.1:c.4603G>A NP_001394871.1:p.Asp1535Asn missense NM_001407943.1:c.4600G>A NP_001394872.1:p.Asp1534Asn missense NM_001407944.1:c.4600G>A NP_001394873.1:p.Asp1534Asn missense NM_001407945.1:c.4600G>A NP_001394874.1:p.Asp1534Asn missense NM_001407946.1:c.4411G>A NP_001394875.1:p.Asp1471Asn missense NM_001407947.1:c.4411G>A NP_001394876.1:p.Asp1471Asn missense NM_001407948.1:c.4411G>A NP_001394877.1:p.Asp1471Asn missense NM_001407949.1:c.4411G>A NP_001394878.1:p.Asp1471Asn missense NM_001407950.1:c.4408G>A NP_001394879.1:p.Asp1470Asn missense NM_001407951.1:c.4408G>A NP_001394880.1:p.Asp1470Asn missense NM_001407952.1:c.4408G>A NP_001394881.1:p.Asp1470Asn missense NM_001407953.1:c.4408G>A NP_001394882.1:p.Asp1470Asn missense NM_001407954.1:c.4408G>A NP_001394883.1:p.Asp1470Asn missense NM_001407955.1:c.4408G>A NP_001394884.1:p.Asp1470Asn missense NM_001407956.1:c.4405G>A NP_001394885.1:p.Asp1469Asn missense NM_001407957.1:c.4405G>A NP_001394886.1:p.Asp1469Asn missense NM_001407958.1:c.4405G>A NP_001394887.1:p.Asp1469Asn missense NM_001407959.1:c.4363G>A NP_001394888.1:p.Asp1455Asn missense NM_001407960.1:c.4360G>A NP_001394889.1:p.Asp1454Asn missense NM_001407962.1:c.4360G>A NP_001394891.1:p.Asp1454Asn missense NM_001407963.1:c.4357G>A NP_001394892.1:p.Asp1453Asn missense NM_001407964.1:c.4282G>A NP_001394893.1:p.Asp1428Asn missense NM_001407965.1:c.4237G>A NP_001394894.1:p.Asp1413Asn missense NM_001407966.1:c.3856G>A NP_001394895.1:p.Asp1286Asn missense NM_001407967.1:c.3853G>A NP_001394896.1:p.Asp1285Asn missense NM_001407968.1:c.2140G>A NP_001394897.1:p.Asp714Asn missense NM_001407969.1:c.2137G>A NP_001394898.1:p.Asp713Asn missense NM_001407970.1:c.1501G>A NP_001394899.1:p.Asp501Asn missense NM_001407971.1:c.1501G>A NP_001394900.1:p.Asp501Asn missense NM_001407972.1:c.1498G>A NP_001394901.1:p.Asp500Asn missense NM_001407973.1:c.1435G>A NP_001394902.1:p.Asp479Asn missense NM_001407974.1:c.1435G>A NP_001394903.1:p.Asp479Asn missense NM_001407975.1:c.1435G>A NP_001394904.1:p.Asp479Asn missense NM_001407976.1:c.1435G>A NP_001394905.1:p.Asp479Asn missense NM_001407977.1:c.1435G>A NP_001394906.1:p.Asp479Asn missense NM_001407978.1:c.1435G>A NP_001394907.1:p.Asp479Asn missense NM_001407979.1:c.1432G>A NP_001394908.1:p.Asp478Asn missense NM_001407980.1:c.1432G>A NP_001394909.1:p.Asp478Asn missense NM_001407981.1:c.1432G>A NP_001394910.1:p.Asp478Asn missense NM_001407982.1:c.1432G>A NP_001394911.1:p.Asp478Asn missense NM_001407983.1:c.1432G>A NP_001394912.1:p.Asp478Asn missense NM_001407984.1:c.1432G>A NP_001394913.1:p.Asp478Asn missense NM_001407985.1:c.1432G>A NP_001394914.1:p.Asp478Asn missense NM_001407986.1:c.1432G>A NP_001394915.1:p.Asp478Asn missense NM_001407990.1:c.1432G>A NP_001394919.1:p.Asp478Asn missense NM_001407991.1:c.1432G>A NP_001394920.1:p.Asp478Asn missense NM_001407992.1:c.1432G>A NP_001394921.1:p.Asp478Asn missense NM_001407993.1:c.1432G>A NP_001394922.1:p.Asp478Asn missense NM_001408392.1:c.1429G>A NP_001395321.1:p.Asp477Asn missense NM_001408396.1:c.1429G>A NP_001395325.1:p.Asp477Asn missense NM_001408397.1:c.1429G>A NP_001395326.1:p.Asp477Asn missense NM_001408398.1:c.1429G>A NP_001395327.1:p.Asp477Asn missense NM_001408399.1:c.1429G>A NP_001395328.1:p.Asp477Asn missense NM_001408400.1:c.1429G>A NP_001395329.1:p.Asp477Asn missense NM_001408401.1:c.1429G>A NP_001395330.1:p.Asp477Asn missense NM_001408402.1:c.1429G>A NP_001395331.1:p.Asp477Asn missense NM_001408403.1:c.1429G>A NP_001395332.1:p.Asp477Asn missense NM_001408404.1:c.1429G>A NP_001395333.1:p.Asp477Asn missense NM_001408406.1:c.1426G>A NP_001395335.1:p.Asp476Asn missense NM_001408407.1:c.1426G>A NP_001395336.1:p.Asp476Asn missense NM_001408408.1:c.1426G>A NP_001395337.1:p.Asp476Asn missense NM_001408409.1:c.1423G>A NP_001395338.1:p.Asp475Asn missense NM_001408410.1:c.1360G>A NP_001395339.1:p.Asp454Asn missense NM_001408411.1:c.1357G>A NP_001395340.1:p.Asp453Asn missense NM_001408412.1:c.1354G>A NP_001395341.1:p.Asp452Asn missense NM_001408413.1:c.1354G>A NP_001395342.1:p.Asp452Asn missense NM_001408414.1:c.1354G>A NP_001395343.1:p.Asp452Asn missense NM_001408415.1:c.1354G>A NP_001395344.1:p.Asp452Asn missense NM_001408416.1:c.1354G>A NP_001395345.1:p.Asp452Asn missense NM_001408418.1:c.1318G>A NP_001395347.1:p.Asp440Asn missense NM_001408419.1:c.1318G>A NP_001395348.1:p.Asp440Asn missense NM_001408420.1:c.1318G>A NP_001395349.1:p.Asp440Asn missense NM_001408421.1:c.1315G>A NP_001395350.1:p.Asp439Asn missense NM_001408422.1:c.1315G>A NP_001395351.1:p.Asp439Asn missense NM_001408423.1:c.1315G>A NP_001395352.1:p.Asp439Asn missense NM_001408424.1:c.1315G>A NP_001395353.1:p.Asp439Asn missense NM_001408425.1:c.1312G>A NP_001395354.1:p.Asp438Asn missense NM_001408426.1:c.1312G>A NP_001395355.1:p.Asp438Asn missense NM_001408427.1:c.1312G>A NP_001395356.1:p.Asp438Asn missense NM_001408428.1:c.1312G>A NP_001395357.1:p.Asp438Asn missense NM_001408429.1:c.1312G>A NP_001395358.1:p.Asp438Asn missense NM_001408430.1:c.1312G>A NP_001395359.1:p.Asp438Asn missense NM_001408431.1:c.1312G>A NP_001395360.1:p.Asp438Asn missense NM_001408432.1:c.1309G>A NP_001395361.1:p.Asp437Asn missense NM_001408433.1:c.1309G>A NP_001395362.1:p.Asp437Asn missense NM_001408434.1:c.1309G>A NP_001395363.1:p.Asp437Asn missense NM_001408435.1:c.1309G>A NP_001395364.1:p.Asp437Asn missense NM_001408436.1:c.1309G>A NP_001395365.1:p.Asp437Asn missense NM_001408437.1:c.1309G>A NP_001395366.1:p.Asp437Asn missense NM_001408438.1:c.1309G>A NP_001395367.1:p.Asp437Asn missense NM_001408439.1:c.1309G>A NP_001395368.1:p.Asp437Asn missense NM_001408440.1:c.1309G>A NP_001395369.1:p.Asp437Asn missense NM_001408441.1:c.1309G>A NP_001395370.1:p.Asp437Asn missense NM_001408442.1:c.1309G>A NP_001395371.1:p.Asp437Asn missense NM_001408443.1:c.1309G>A NP_001395372.1:p.Asp437Asn missense NM_001408444.1:c.1309G>A NP_001395373.1:p.Asp437Asn missense NM_001408445.1:c.1306G>A NP_001395374.1:p.Asp436Asn missense NM_001408446.1:c.1306G>A NP_001395375.1:p.Asp436Asn missense NM_001408447.1:c.1306G>A NP_001395376.1:p.Asp436Asn missense NM_001408448.1:c.1306G>A NP_001395377.1:p.Asp436Asn missense NM_001408450.1:c.1306G>A NP_001395379.1:p.Asp436Asn missense NM_001408451.1:c.1300G>A NP_001395380.1:p.Asp434Asn missense NM_001408452.1:c.1294G>A NP_001395381.1:p.Asp432Asn missense NM_001408453.1:c.1294G>A NP_001395382.1:p.Asp432Asn missense NM_001408454.1:c.1294G>A NP_001395383.1:p.Asp432Asn missense NM_001408455.1:c.1294G>A NP_001395384.1:p.Asp432Asn missense NM_001408456.1:c.1294G>A NP_001395385.1:p.Asp432Asn missense NM_001408457.1:c.1294G>A NP_001395386.1:p.Asp432Asn missense NM_001408458.1:c.1291G>A NP_001395387.1:p.Asp431Asn missense NM_001408459.1:c.1291G>A NP_001395388.1:p.Asp431Asn missense NM_001408460.1:c.1291G>A NP_001395389.1:p.Asp431Asn missense NM_001408461.1:c.1291G>A NP_001395390.1:p.Asp431Asn missense NM_001408462.1:c.1291G>A NP_001395391.1:p.Asp431Asn missense NM_001408463.1:c.1291G>A NP_001395392.1:p.Asp431Asn missense NM_001408464.1:c.1291G>A NP_001395393.1:p.Asp431Asn missense NM_001408465.1:c.1291G>A NP_001395394.1:p.Asp431Asn missense NM_001408466.1:c.1291G>A NP_001395395.1:p.Asp431Asn missense NM_001408467.1:c.1291G>A NP_001395396.1:p.Asp431Asn missense NM_001408468.1:c.1288G>A NP_001395397.1:p.Asp430Asn missense NM_001408469.1:c.1288G>A NP_001395398.1:p.Asp430Asn missense NM_001408470.1:c.1288G>A NP_001395399.1:p.Asp430Asn missense NM_001408472.1:c.1432G>A NP_001395401.1:p.Asp478Asn missense NM_001408473.1:c.1429G>A NP_001395402.1:p.Asp477Asn missense NM_001408474.1:c.1234G>A NP_001395403.1:p.Asp412Asn missense NM_001408475.1:c.1231G>A NP_001395404.1:p.Asp411Asn missense NM_001408476.1:c.1231G>A NP_001395405.1:p.Asp411Asn missense NM_001408478.1:c.1225G>A NP_001395407.1:p.Asp409Asn missense NM_001408479.1:c.1225G>A NP_001395408.1:p.Asp409Asn missense NM_001408480.1:c.1225G>A NP_001395409.1:p.Asp409Asn missense NM_001408481.1:c.1222G>A NP_001395410.1:p.Asp408Asn missense NM_001408482.1:c.1222G>A NP_001395411.1:p.Asp408Asn missense NM_001408483.1:c.1222G>A NP_001395412.1:p.Asp408Asn missense NM_001408484.1:c.1222G>A NP_001395413.1:p.Asp408Asn missense NM_001408485.1:c.1222G>A NP_001395414.1:p.Asp408Asn missense NM_001408489.1:c.1222G>A NP_001395418.1:p.Asp408Asn missense NM_001408490.1:c.1222G>A NP_001395419.1:p.Asp408Asn missense NM_001408491.1:c.1222G>A NP_001395420.1:p.Asp408Asn missense NM_001408492.1:c.1219G>A NP_001395421.1:p.Asp407Asn missense NM_001408493.1:c.1219G>A NP_001395422.1:p.Asp407Asn missense NM_001408494.1:c.1195G>A NP_001395423.1:p.Asp399Asn missense NM_001408495.1:c.1189G>A NP_001395424.1:p.Asp397Asn missense NM_001408496.1:c.1171G>A NP_001395425.1:p.Asp391Asn missense NM_001408497.1:c.1171G>A NP_001395426.1:p.Asp391Asn missense NM_001408498.1:c.1171G>A NP_001395427.1:p.Asp391Asn missense NM_001408499.1:c.1171G>A NP_001395428.1:p.Asp391Asn missense NM_001408500.1:c.1171G>A NP_001395429.1:p.Asp391Asn missense NM_001408501.1:c.1171G>A NP_001395430.1:p.Asp391Asn missense NM_001408502.1:c.1168G>A NP_001395431.1:p.Asp390Asn missense NM_001408503.1:c.1168G>A NP_001395432.1:p.Asp390Asn missense NM_001408504.1:c.1168G>A NP_001395433.1:p.Asp390Asn missense NM_001408505.1:c.1165G>A NP_001395434.1:p.Asp389Asn missense NM_001408506.1:c.1108G>A NP_001395435.1:p.Asp370Asn missense NM_001408507.1:c.1105G>A NP_001395436.1:p.Asp369Asn missense NM_001408508.1:c.1096G>A NP_001395437.1:p.Asp366Asn missense NM_001408509.1:c.1093G>A NP_001395438.1:p.Asp365Asn missense NM_001408510.1:c.1054G>A NP_001395439.1:p.Asp352Asn missense NM_001408511.1:c.1051G>A NP_001395440.1:p.Asp351Asn missense NM_001408512.1:c.931G>A NP_001395441.1:p.Asp311Asn missense NM_001408513.1:c.904G>A NP_001395442.1:p.Asp302Asn missense NM_007297.4:c.4603G>A NP_009228.2:p.Asp1535Asn missense NM_007298.4:c.1432G>A NP_009229.2:p.Asp478Asn missense NM_007299.4:c.1432G>A NP_009230.2:p.Asp478Asn missense NM_007300.4:c.4807G>A NP_009231.2:p.Asp1603Asn missense NM_007304.2:c.1432G>A NP_009235.2:p.Asp478Asn missense NR_027676.2:n.4921G>A non-coding transcript variant NC_000017.11:g.43071170C>T NC_000017.10:g.41223187C>T NG_005905.2:g.146814G>A LRG_292:g.146814G>A LRG_292t1:c.4744G>A LRG_292p1:p.Asp1582Asn - Protein change
- D1453N, D1469N, D1470N, D1494N, D1513N, D1535N, D1538N, D1541N, D1554N, D1555N, D1581N, D302N, D370N, D390N, D409N, D412N, D432N, D438N, D440N, D452N, D475N, D476N, D477N, D714N, D1285N, D1454N, D1455N, D1471N, D1515N, D1533N, D1539N, D1540N, D1556N, D1578N, D1579N, D311N, D351N, D352N, D501N, D1428N, D1493N, D1510N, D1511N, D1512N, D1562N, D1563N, D1582N, D1603N, D365N, D366N, D369N, D391N, D399N, D408N, D411N, D430N, D434N, D437N, D439N, D713N, D1286N, D1413N, D1492N, D1534N, D1577N, D1580N, D1602N, D1604N, D389N, D397N, D407N, D431N, D436N, D453N, D454N, D478N, D479N, D500N
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071169:C:T
-
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
|
Nov 5, 2020 | RCV002335530.2 | |
| Uncertain significance (1) |
criteria provided, single submitter
|
Mar 1, 2023 | RCV003645279.2 |
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
(Nov 05, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002639357.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.4744G>A (p.D1582N) alteration is located in exon 15 (coding exon 14) of the BRCA1 gene. This alteration results from a G to A substitution … (more)
The c.4744G>A (p.D1582N) alteration is located in exon 15 (coding exon 14) of the BRCA1 gene. This alteration results from a G to A substitution at nucleotide position 4744, causing the aspartic acid (D) at amino acid position 1582 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
|
|
Uncertain significance
(Mar 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV004503901.1
First in ClinVar: Feb 20, 2024 Last updated: Feb 20, 2024 |
Comment:
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 … (more)
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. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1582 of the BRCA1 protein (p.Asp1582Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1742791). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. (less)
|
Comment:
Comment:
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. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1582 of the BRCA1 protein (p.Asp1582Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1742791). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function.
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 c.4744G>A (p.D1582N) alteration is located in exon 15 (coding exon 14) of the BRCA1 gene. This alteration results from a G to A substitution at nucleotide position 4744, causing the aspartic acid (D) at amino acid position 1582 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Comment:
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. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1582 of the BRCA1 protein (p.Asp1582Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1742791). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function.
Citations for germline classification of this variant
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Text-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.