The p.E1576G variant (also known as c.4727A>G), located in coding exon 14 of the BRCA1 gene, results from an A to G substitution at nucleotide position 4727. The glutamic acid at codon 1576 is replaced by glycine, an amino acid with similar 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.4727A>G (p.Glu1576Gly)
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)
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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.4727A>G (p.Glu1576Gly)
Variation ID: 231185 Accession: VCV000231185.7
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43071187 (GRCh38) [ NCBI UCSC ] 17: 41223204 (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 May 29, 2016 May 1, 2024 Mar 24, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4727A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1576Gly missense NM_001407571.1:c.4514A>G NP_001394500.1:p.Glu1505Gly missense NM_001407581.1:c.4793A>G NP_001394510.1:p.Glu1598Gly missense NM_001407582.1:c.4793A>G NP_001394511.1:p.Glu1598Gly missense NM_001407583.1:c.4790A>G NP_001394512.1:p.Glu1597Gly missense NM_001407585.1:c.4790A>G NP_001394514.1:p.Glu1597Gly missense NM_001407587.1:c.4790A>G NP_001394516.1:p.Glu1597Gly missense NM_001407590.1:c.4787A>G NP_001394519.1:p.Glu1596Gly missense NM_001407591.1:c.4787A>G NP_001394520.1:p.Glu1596Gly missense NM_001407593.1:c.4727A>G NP_001394522.1:p.Glu1576Gly missense NM_001407594.1:c.4727A>G NP_001394523.1:p.Glu1576Gly missense NM_001407596.1:c.4727A>G NP_001394525.1:p.Glu1576Gly missense NM_001407597.1:c.4727A>G NP_001394526.1:p.Glu1576Gly missense NM_001407598.1:c.4727A>G NP_001394527.1:p.Glu1576Gly missense NM_001407602.1:c.4727A>G NP_001394531.1:p.Glu1576Gly missense NM_001407603.1:c.4727A>G NP_001394532.1:p.Glu1576Gly missense NM_001407605.1:c.4727A>G NP_001394534.1:p.Glu1576Gly missense NM_001407610.1:c.4724A>G NP_001394539.1:p.Glu1575Gly missense NM_001407611.1:c.4724A>G NP_001394540.1:p.Glu1575Gly missense NM_001407612.1:c.4724A>G NP_001394541.1:p.Glu1575Gly missense NM_001407613.1:c.4724A>G NP_001394542.1:p.Glu1575Gly missense NM_001407614.1:c.4724A>G NP_001394543.1:p.Glu1575Gly missense NM_001407615.1:c.4724A>G NP_001394544.1:p.Glu1575Gly missense NM_001407616.1:c.4724A>G NP_001394545.1:p.Glu1575Gly missense NM_001407617.1:c.4724A>G NP_001394546.1:p.Glu1575Gly missense NM_001407618.1:c.4724A>G NP_001394547.1:p.Glu1575Gly missense NM_001407619.1:c.4724A>G NP_001394548.1:p.Glu1575Gly missense NM_001407620.1:c.4724A>G NP_001394549.1:p.Glu1575Gly missense NM_001407621.1:c.4724A>G NP_001394550.1:p.Glu1575Gly missense NM_001407622.1:c.4724A>G NP_001394551.1:p.Glu1575Gly missense NM_001407623.1:c.4724A>G NP_001394552.1:p.Glu1575Gly missense NM_001407624.1:c.4724A>G NP_001394553.1:p.Glu1575Gly missense NM_001407625.1:c.4724A>G NP_001394554.1:p.Glu1575Gly missense NM_001407626.1:c.4724A>G NP_001394555.1:p.Glu1575Gly missense NM_001407627.1:c.4721A>G NP_001394556.1:p.Glu1574Gly missense NM_001407628.1:c.4721A>G NP_001394557.1:p.Glu1574Gly missense NM_001407629.1:c.4721A>G NP_001394558.1:p.Glu1574Gly missense NM_001407630.1:c.4721A>G NP_001394559.1:p.Glu1574Gly missense NM_001407631.1:c.4721A>G NP_001394560.1:p.Glu1574Gly missense NM_001407632.1:c.4721A>G NP_001394561.1:p.Glu1574Gly missense NM_001407633.1:c.4721A>G NP_001394562.1:p.Glu1574Gly missense NM_001407634.1:c.4721A>G NP_001394563.1:p.Glu1574Gly missense NM_001407635.1:c.4721A>G NP_001394564.1:p.Glu1574Gly missense NM_001407636.1:c.4721A>G NP_001394565.1:p.Glu1574Gly missense NM_001407637.1:c.4721A>G NP_001394566.1:p.Glu1574Gly missense NM_001407638.1:c.4721A>G NP_001394567.1:p.Glu1574Gly missense NM_001407639.1:c.4721A>G NP_001394568.1:p.Glu1574Gly missense NM_001407640.1:c.4721A>G NP_001394569.1:p.Glu1574Gly missense NM_001407641.1:c.4721A>G NP_001394570.1:p.Glu1574Gly missense NM_001407642.1:c.4721A>G NP_001394571.1:p.Glu1574Gly missense NM_001407644.1:c.4718A>G NP_001394573.1:p.Glu1573Gly missense NM_001407645.1:c.4718A>G NP_001394574.1:p.Glu1573Gly missense NM_001407646.1:c.4715A>G NP_001394575.1:p.Glu1572Gly missense NM_001407647.1:c.4712A>G NP_001394576.1:p.Glu1571Gly missense NM_001407648.1:c.4670A>G NP_001394577.1:p.Glu1557Gly missense NM_001407649.1:c.4667A>G NP_001394578.1:p.Glu1556Gly missense NM_001407652.1:c.4727A>G NP_001394581.1:p.Glu1576Gly missense NM_001407653.1:c.4649A>G NP_001394582.1:p.Glu1550Gly missense NM_001407654.1:c.4649A>G NP_001394583.1:p.Glu1550Gly missense NM_001407655.1:c.4649A>G NP_001394584.1:p.Glu1550Gly missense NM_001407656.1:c.4646A>G NP_001394585.1:p.Glu1549Gly missense NM_001407657.1:c.4646A>G NP_001394586.1:p.Glu1549Gly missense NM_001407658.1:c.4646A>G NP_001394587.1:p.Glu1549Gly missense NM_001407659.1:c.4643A>G NP_001394588.1:p.Glu1548Gly missense NM_001407660.1:c.4643A>G NP_001394589.1:p.Glu1548Gly missense NM_001407661.1:c.4643A>G NP_001394590.1:p.Glu1548Gly missense NM_001407662.1:c.4643A>G NP_001394591.1:p.Glu1548Gly missense NM_001407663.1:c.4643A>G NP_001394592.1:p.Glu1548Gly missense NM_001407664.1:c.4604A>G NP_001394593.1:p.Glu1535Gly missense NM_001407665.1:c.4604A>G NP_001394594.1:p.Glu1535Gly missense NM_001407666.1:c.4604A>G NP_001394595.1:p.Glu1535Gly missense NM_001407667.1:c.4604A>G NP_001394596.1:p.Glu1535Gly missense NM_001407668.1:c.4604A>G NP_001394597.1:p.Glu1535Gly missense NM_001407669.1:c.4604A>G NP_001394598.1:p.Glu1535Gly missense NM_001407670.1:c.4601A>G NP_001394599.1:p.Glu1534Gly missense NM_001407671.1:c.4601A>G NP_001394600.1:p.Glu1534Gly missense NM_001407672.1:c.4601A>G NP_001394601.1:p.Glu1534Gly missense NM_001407673.1:c.4601A>G NP_001394602.1:p.Glu1534Gly missense NM_001407674.1:c.4601A>G NP_001394603.1:p.Glu1534Gly missense NM_001407675.1:c.4601A>G NP_001394604.1:p.Glu1534Gly missense NM_001407676.1:c.4601A>G NP_001394605.1:p.Glu1534Gly missense NM_001407677.1:c.4601A>G NP_001394606.1:p.Glu1534Gly missense NM_001407678.1:c.4601A>G NP_001394607.1:p.Glu1534Gly missense NM_001407679.1:c.4601A>G NP_001394608.1:p.Glu1534Gly missense NM_001407680.1:c.4601A>G NP_001394609.1:p.Glu1534Gly missense NM_001407681.1:c.4598A>G NP_001394610.1:p.Glu1533Gly missense NM_001407682.1:c.4598A>G NP_001394611.1:p.Glu1533Gly missense NM_001407683.1:c.4598A>G NP_001394612.1:p.Glu1533Gly missense NM_001407684.1:c.4727A>G NP_001394613.1:p.Glu1576Gly missense NM_001407685.1:c.4598A>G NP_001394614.1:p.Glu1533Gly missense NM_001407686.1:c.4598A>G NP_001394615.1:p.Glu1533Gly missense NM_001407687.1:c.4598A>G NP_001394616.1:p.Glu1533Gly missense NM_001407688.1:c.4598A>G NP_001394617.1:p.Glu1533Gly missense NM_001407689.1:c.4598A>G NP_001394618.1:p.Glu1533Gly missense NM_001407690.1:c.4595A>G NP_001394619.1:p.Glu1532Gly missense NM_001407691.1:c.4595A>G NP_001394620.1:p.Glu1532Gly missense NM_001407692.1:c.4586A>G NP_001394621.1:p.Glu1529Gly missense NM_001407694.1:c.4586A>G NP_001394623.1:p.Glu1529Gly missense NM_001407695.1:c.4586A>G NP_001394624.1:p.Glu1529Gly missense NM_001407696.1:c.4586A>G NP_001394625.1:p.Glu1529Gly missense NM_001407697.1:c.4586A>G NP_001394626.1:p.Glu1529Gly missense NM_001407698.1:c.4586A>G NP_001394627.1:p.Glu1529Gly missense NM_001407724.1:c.4586A>G NP_001394653.1:p.Glu1529Gly missense NM_001407725.1:c.4586A>G NP_001394654.1:p.Glu1529Gly missense NM_001407726.1:c.4586A>G NP_001394655.1:p.Glu1529Gly missense NM_001407727.1:c.4586A>G NP_001394656.1:p.Glu1529Gly missense NM_001407728.1:c.4586A>G NP_001394657.1:p.Glu1529Gly missense NM_001407729.1:c.4586A>G NP_001394658.1:p.Glu1529Gly missense NM_001407730.1:c.4586A>G NP_001394659.1:p.Glu1529Gly missense NM_001407731.1:c.4586A>G NP_001394660.1:p.Glu1529Gly missense NM_001407732.1:c.4583A>G NP_001394661.1:p.Glu1528Gly missense NM_001407733.1:c.4583A>G NP_001394662.1:p.Glu1528Gly missense NM_001407734.1:c.4583A>G NP_001394663.1:p.Glu1528Gly missense NM_001407735.1:c.4583A>G NP_001394664.1:p.Glu1528Gly missense NM_001407736.1:c.4583A>G NP_001394665.1:p.Glu1528Gly missense NM_001407737.1:c.4583A>G NP_001394666.1:p.Glu1528Gly missense NM_001407738.1:c.4583A>G NP_001394667.1:p.Glu1528Gly missense NM_001407739.1:c.4583A>G NP_001394668.1:p.Glu1528Gly missense NM_001407740.1:c.4583A>G NP_001394669.1:p.Glu1528Gly missense NM_001407741.1:c.4583A>G NP_001394670.1:p.Glu1528Gly missense NM_001407742.1:c.4583A>G NP_001394671.1:p.Glu1528Gly missense NM_001407743.1:c.4583A>G NP_001394672.1:p.Glu1528Gly missense NM_001407744.1:c.4583A>G NP_001394673.1:p.Glu1528Gly missense NM_001407745.1:c.4583A>G NP_001394674.1:p.Glu1528Gly missense NM_001407746.1:c.4583A>G NP_001394675.1:p.Glu1528Gly missense NM_001407747.1:c.4583A>G NP_001394676.1:p.Glu1528Gly missense NM_001407748.1:c.4583A>G NP_001394677.1:p.Glu1528Gly missense NM_001407749.1:c.4583A>G NP_001394678.1:p.Glu1528Gly missense NM_001407750.1:c.4583A>G NP_001394679.1:p.Glu1528Gly missense NM_001407751.1:c.4583A>G NP_001394680.1:p.Glu1528Gly missense NM_001407752.1:c.4583A>G NP_001394681.1:p.Glu1528Gly missense NM_001407838.1:c.4580A>G NP_001394767.1:p.Glu1527Gly missense NM_001407839.1:c.4580A>G NP_001394768.1:p.Glu1527Gly missense NM_001407841.1:c.4580A>G NP_001394770.1:p.Glu1527Gly missense NM_001407842.1:c.4580A>G NP_001394771.1:p.Glu1527Gly missense NM_001407843.1:c.4580A>G NP_001394772.1:p.Glu1527Gly missense NM_001407844.1:c.4580A>G NP_001394773.1:p.Glu1527Gly missense NM_001407845.1:c.4580A>G NP_001394774.1:p.Glu1527Gly missense NM_001407846.1:c.4580A>G NP_001394775.1:p.Glu1527Gly missense NM_001407847.1:c.4580A>G NP_001394776.1:p.Glu1527Gly missense NM_001407848.1:c.4580A>G NP_001394777.1:p.Glu1527Gly missense NM_001407849.1:c.4580A>G NP_001394778.1:p.Glu1527Gly missense NM_001407850.1:c.4580A>G NP_001394779.1:p.Glu1527Gly missense NM_001407851.1:c.4580A>G NP_001394780.1:p.Glu1527Gly missense NM_001407852.1:c.4580A>G NP_001394781.1:p.Glu1527Gly missense NM_001407853.1:c.4580A>G NP_001394782.1:p.Glu1527Gly missense NM_001407854.1:c.4727A>G NP_001394783.1:p.Glu1576Gly missense NM_001407858.1:c.4724A>G NP_001394787.1:p.Glu1575Gly missense NM_001407859.1:c.4724A>G NP_001394788.1:p.Glu1575Gly missense NM_001407860.1:c.4724A>G NP_001394789.1:p.Glu1575Gly missense NM_001407861.1:c.4721A>G NP_001394790.1:p.Glu1574Gly missense NM_001407862.1:c.4526A>G NP_001394791.1:p.Glu1509Gly missense NM_001407863.1:c.4601A>G NP_001394792.1:p.Glu1534Gly missense NM_001407874.1:c.4520A>G NP_001394803.1:p.Glu1507Gly missense NM_001407875.1:c.4520A>G NP_001394804.1:p.Glu1507Gly missense NM_001407879.1:c.4517A>G NP_001394808.1:p.Glu1506Gly missense NM_001407881.1:c.4517A>G NP_001394810.1:p.Glu1506Gly missense NM_001407882.1:c.4517A>G NP_001394811.1:p.Glu1506Gly missense NM_001407884.1:c.4517A>G NP_001394813.1:p.Glu1506Gly missense NM_001407885.1:c.4517A>G NP_001394814.1:p.Glu1506Gly missense NM_001407886.1:c.4517A>G NP_001394815.1:p.Glu1506Gly missense NM_001407887.1:c.4517A>G NP_001394816.1:p.Glu1506Gly missense NM_001407889.1:c.4517A>G NP_001394818.1:p.Glu1506Gly missense NM_001407894.1:c.4514A>G NP_001394823.1:p.Glu1505Gly missense NM_001407895.1:c.4514A>G NP_001394824.1:p.Glu1505Gly missense NM_001407896.1:c.4514A>G NP_001394825.1:p.Glu1505Gly missense NM_001407897.1:c.4514A>G NP_001394826.1:p.Glu1505Gly missense NM_001407898.1:c.4514A>G NP_001394827.1:p.Glu1505Gly missense NM_001407899.1:c.4514A>G NP_001394828.1:p.Glu1505Gly missense NM_001407900.1:c.4514A>G NP_001394829.1:p.Glu1505Gly missense NM_001407902.1:c.4514A>G NP_001394831.1:p.Glu1505Gly missense NM_001407904.1:c.4514A>G NP_001394833.1:p.Glu1505Gly missense NM_001407906.1:c.4514A>G NP_001394835.1:p.Glu1505Gly missense NM_001407907.1:c.4514A>G NP_001394836.1:p.Glu1505Gly missense NM_001407908.1:c.4514A>G NP_001394837.1:p.Glu1505Gly missense NM_001407909.1:c.4514A>G NP_001394838.1:p.Glu1505Gly missense NM_001407910.1:c.4514A>G NP_001394839.1:p.Glu1505Gly missense NM_001407915.1:c.4511A>G NP_001394844.1:p.Glu1504Gly missense NM_001407916.1:c.4511A>G NP_001394845.1:p.Glu1504Gly missense NM_001407917.1:c.4511A>G NP_001394846.1:p.Glu1504Gly missense NM_001407918.1:c.4511A>G NP_001394847.1:p.Glu1504Gly missense NM_001407919.1:c.4604A>G NP_001394848.1:p.Glu1535Gly missense NM_001407920.1:c.4463A>G NP_001394849.1:p.Glu1488Gly missense NM_001407921.1:c.4463A>G NP_001394850.1:p.Glu1488Gly missense NM_001407922.1:c.4463A>G NP_001394851.1:p.Glu1488Gly missense NM_001407923.1:c.4463A>G NP_001394852.1:p.Glu1488Gly missense NM_001407924.1:c.4463A>G NP_001394853.1:p.Glu1488Gly missense NM_001407925.1:c.4463A>G NP_001394854.1:p.Glu1488Gly missense NM_001407926.1:c.4463A>G NP_001394855.1:p.Glu1488Gly missense NM_001407927.1:c.4460A>G NP_001394856.1:p.Glu1487Gly missense NM_001407928.1:c.4460A>G NP_001394857.1:p.Glu1487Gly missense NM_001407929.1:c.4460A>G NP_001394858.1:p.Glu1487Gly missense NM_001407930.1:c.4460A>G NP_001394859.1:p.Glu1487Gly missense NM_001407931.1:c.4460A>G NP_001394860.1:p.Glu1487Gly missense NM_001407932.1:c.4460A>G NP_001394861.1:p.Glu1487Gly missense NM_001407933.1:c.4460A>G NP_001394862.1:p.Glu1487Gly missense NM_001407934.1:c.4457A>G NP_001394863.1:p.Glu1486Gly missense NM_001407935.1:c.4457A>G NP_001394864.1:p.Glu1486Gly missense NM_001407936.1:c.4457A>G NP_001394865.1:p.Glu1486Gly missense NM_001407937.1:c.4604A>G NP_001394866.1:p.Glu1535Gly missense NM_001407938.1:c.4604A>G NP_001394867.1:p.Glu1535Gly missense NM_001407939.1:c.4601A>G NP_001394868.1:p.Glu1534Gly missense NM_001407940.1:c.4601A>G NP_001394869.1:p.Glu1534Gly missense NM_001407941.1:c.4598A>G NP_001394870.1:p.Glu1533Gly missense NM_001407942.1:c.4586A>G NP_001394871.1:p.Glu1529Gly missense NM_001407943.1:c.4583A>G NP_001394872.1:p.Glu1528Gly missense NM_001407944.1:c.4583A>G NP_001394873.1:p.Glu1528Gly missense NM_001407945.1:c.4583A>G NP_001394874.1:p.Glu1528Gly missense NM_001407946.1:c.4394A>G NP_001394875.1:p.Glu1465Gly missense NM_001407947.1:c.4394A>G NP_001394876.1:p.Glu1465Gly missense NM_001407948.1:c.4394A>G NP_001394877.1:p.Glu1465Gly missense NM_001407949.1:c.4394A>G NP_001394878.1:p.Glu1465Gly missense NM_001407950.1:c.4391A>G NP_001394879.1:p.Glu1464Gly missense NM_001407951.1:c.4391A>G NP_001394880.1:p.Glu1464Gly missense NM_001407952.1:c.4391A>G NP_001394881.1:p.Glu1464Gly missense NM_001407953.1:c.4391A>G NP_001394882.1:p.Glu1464Gly missense NM_001407954.1:c.4391A>G NP_001394883.1:p.Glu1464Gly missense NM_001407955.1:c.4391A>G NP_001394884.1:p.Glu1464Gly missense NM_001407956.1:c.4388A>G NP_001394885.1:p.Glu1463Gly missense NM_001407957.1:c.4388A>G NP_001394886.1:p.Glu1463Gly missense NM_001407958.1:c.4388A>G NP_001394887.1:p.Glu1463Gly missense NM_001407959.1:c.4346A>G NP_001394888.1:p.Glu1449Gly missense NM_001407960.1:c.4343A>G NP_001394889.1:p.Glu1448Gly missense NM_001407962.1:c.4343A>G NP_001394891.1:p.Glu1448Gly missense NM_001407963.1:c.4340A>G NP_001394892.1:p.Glu1447Gly missense NM_001407964.1:c.4265A>G NP_001394893.1:p.Glu1422Gly missense NM_001407965.1:c.4220A>G NP_001394894.1:p.Glu1407Gly missense NM_001407966.1:c.3839A>G NP_001394895.1:p.Glu1280Gly missense NM_001407967.1:c.3836A>G NP_001394896.1:p.Glu1279Gly missense NM_001407968.1:c.2123A>G NP_001394897.1:p.Glu708Gly missense NM_001407969.1:c.2120A>G NP_001394898.1:p.Glu707Gly missense NM_001407970.1:c.1484A>G NP_001394899.1:p.Glu495Gly missense NM_001407971.1:c.1484A>G NP_001394900.1:p.Glu495Gly missense NM_001407972.1:c.1481A>G NP_001394901.1:p.Glu494Gly missense NM_001407973.1:c.1418A>G NP_001394902.1:p.Glu473Gly missense NM_001407974.1:c.1418A>G NP_001394903.1:p.Glu473Gly missense NM_001407975.1:c.1418A>G NP_001394904.1:p.Glu473Gly missense NM_001407976.1:c.1418A>G NP_001394905.1:p.Glu473Gly missense NM_001407977.1:c.1418A>G NP_001394906.1:p.Glu473Gly missense NM_001407978.1:c.1418A>G NP_001394907.1:p.Glu473Gly missense NM_001407979.1:c.1415A>G NP_001394908.1:p.Glu472Gly missense NM_001407980.1:c.1415A>G NP_001394909.1:p.Glu472Gly missense NM_001407981.1:c.1415A>G NP_001394910.1:p.Glu472Gly missense NM_001407982.1:c.1415A>G NP_001394911.1:p.Glu472Gly missense NM_001407983.1:c.1415A>G NP_001394912.1:p.Glu472Gly missense NM_001407984.1:c.1415A>G NP_001394913.1:p.Glu472Gly missense NM_001407985.1:c.1415A>G NP_001394914.1:p.Glu472Gly missense NM_001407986.1:c.1415A>G NP_001394915.1:p.Glu472Gly missense NM_001407990.1:c.1415A>G NP_001394919.1:p.Glu472Gly missense NM_001407991.1:c.1415A>G NP_001394920.1:p.Glu472Gly missense NM_001407992.1:c.1415A>G NP_001394921.1:p.Glu472Gly missense NM_001407993.1:c.1415A>G NP_001394922.1:p.Glu472Gly missense NM_001408392.1:c.1412A>G NP_001395321.1:p.Glu471Gly missense NM_001408396.1:c.1412A>G NP_001395325.1:p.Glu471Gly missense NM_001408397.1:c.1412A>G NP_001395326.1:p.Glu471Gly missense NM_001408398.1:c.1412A>G NP_001395327.1:p.Glu471Gly missense NM_001408399.1:c.1412A>G NP_001395328.1:p.Glu471Gly missense NM_001408400.1:c.1412A>G NP_001395329.1:p.Glu471Gly missense NM_001408401.1:c.1412A>G NP_001395330.1:p.Glu471Gly missense NM_001408402.1:c.1412A>G NP_001395331.1:p.Glu471Gly missense NM_001408403.1:c.1412A>G NP_001395332.1:p.Glu471Gly missense NM_001408404.1:c.1412A>G NP_001395333.1:p.Glu471Gly missense NM_001408406.1:c.1409A>G NP_001395335.1:p.Glu470Gly missense NM_001408407.1:c.1409A>G NP_001395336.1:p.Glu470Gly missense NM_001408408.1:c.1409A>G NP_001395337.1:p.Glu470Gly missense NM_001408409.1:c.1406A>G NP_001395338.1:p.Glu469Gly missense NM_001408410.1:c.1343A>G NP_001395339.1:p.Glu448Gly missense NM_001408411.1:c.1340A>G NP_001395340.1:p.Glu447Gly missense NM_001408412.1:c.1337A>G NP_001395341.1:p.Glu446Gly missense NM_001408413.1:c.1337A>G NP_001395342.1:p.Glu446Gly missense NM_001408414.1:c.1337A>G NP_001395343.1:p.Glu446Gly missense NM_001408415.1:c.1337A>G NP_001395344.1:p.Glu446Gly missense NM_001408416.1:c.1337A>G NP_001395345.1:p.Glu446Gly missense NM_001408418.1:c.1301A>G NP_001395347.1:p.Glu434Gly missense NM_001408419.1:c.1301A>G NP_001395348.1:p.Glu434Gly missense NM_001408420.1:c.1301A>G NP_001395349.1:p.Glu434Gly missense NM_001408421.1:c.1298A>G NP_001395350.1:p.Glu433Gly missense NM_001408422.1:c.1298A>G NP_001395351.1:p.Glu433Gly missense NM_001408423.1:c.1298A>G NP_001395352.1:p.Glu433Gly missense NM_001408424.1:c.1298A>G NP_001395353.1:p.Glu433Gly missense NM_001408425.1:c.1295A>G NP_001395354.1:p.Glu432Gly missense NM_001408426.1:c.1295A>G NP_001395355.1:p.Glu432Gly missense NM_001408427.1:c.1295A>G NP_001395356.1:p.Glu432Gly missense NM_001408428.1:c.1295A>G NP_001395357.1:p.Glu432Gly missense NM_001408429.1:c.1295A>G NP_001395358.1:p.Glu432Gly missense NM_001408430.1:c.1295A>G NP_001395359.1:p.Glu432Gly missense NM_001408431.1:c.1295A>G NP_001395360.1:p.Glu432Gly missense NM_001408432.1:c.1292A>G NP_001395361.1:p.Glu431Gly missense NM_001408433.1:c.1292A>G NP_001395362.1:p.Glu431Gly missense NM_001408434.1:c.1292A>G NP_001395363.1:p.Glu431Gly missense NM_001408435.1:c.1292A>G NP_001395364.1:p.Glu431Gly missense NM_001408436.1:c.1292A>G NP_001395365.1:p.Glu431Gly missense NM_001408437.1:c.1292A>G NP_001395366.1:p.Glu431Gly missense NM_001408438.1:c.1292A>G NP_001395367.1:p.Glu431Gly missense NM_001408439.1:c.1292A>G NP_001395368.1:p.Glu431Gly missense NM_001408440.1:c.1292A>G NP_001395369.1:p.Glu431Gly missense NM_001408441.1:c.1292A>G NP_001395370.1:p.Glu431Gly missense NM_001408442.1:c.1292A>G NP_001395371.1:p.Glu431Gly missense NM_001408443.1:c.1292A>G NP_001395372.1:p.Glu431Gly missense NM_001408444.1:c.1292A>G NP_001395373.1:p.Glu431Gly missense NM_001408445.1:c.1289A>G NP_001395374.1:p.Glu430Gly missense NM_001408446.1:c.1289A>G NP_001395375.1:p.Glu430Gly missense NM_001408447.1:c.1289A>G NP_001395376.1:p.Glu430Gly missense NM_001408448.1:c.1289A>G NP_001395377.1:p.Glu430Gly missense NM_001408450.1:c.1289A>G NP_001395379.1:p.Glu430Gly missense NM_001408451.1:c.1283A>G NP_001395380.1:p.Glu428Gly missense NM_001408452.1:c.1277A>G NP_001395381.1:p.Glu426Gly missense NM_001408453.1:c.1277A>G NP_001395382.1:p.Glu426Gly missense NM_001408454.1:c.1277A>G NP_001395383.1:p.Glu426Gly missense NM_001408455.1:c.1277A>G NP_001395384.1:p.Glu426Gly missense NM_001408456.1:c.1277A>G NP_001395385.1:p.Glu426Gly missense NM_001408457.1:c.1277A>G NP_001395386.1:p.Glu426Gly missense NM_001408458.1:c.1274A>G NP_001395387.1:p.Glu425Gly missense NM_001408459.1:c.1274A>G NP_001395388.1:p.Glu425Gly missense NM_001408460.1:c.1274A>G NP_001395389.1:p.Glu425Gly missense NM_001408461.1:c.1274A>G NP_001395390.1:p.Glu425Gly missense NM_001408462.1:c.1274A>G NP_001395391.1:p.Glu425Gly missense NM_001408463.1:c.1274A>G NP_001395392.1:p.Glu425Gly missense NM_001408464.1:c.1274A>G NP_001395393.1:p.Glu425Gly missense NM_001408465.1:c.1274A>G NP_001395394.1:p.Glu425Gly missense NM_001408466.1:c.1274A>G NP_001395395.1:p.Glu425Gly missense NM_001408467.1:c.1274A>G NP_001395396.1:p.Glu425Gly missense NM_001408468.1:c.1271A>G NP_001395397.1:p.Glu424Gly missense NM_001408469.1:c.1271A>G NP_001395398.1:p.Glu424Gly missense NM_001408470.1:c.1271A>G NP_001395399.1:p.Glu424Gly missense NM_001408472.1:c.1415A>G NP_001395401.1:p.Glu472Gly missense NM_001408473.1:c.1412A>G NP_001395402.1:p.Glu471Gly missense NM_001408474.1:c.1217A>G NP_001395403.1:p.Glu406Gly missense NM_001408475.1:c.1214A>G NP_001395404.1:p.Glu405Gly missense NM_001408476.1:c.1214A>G NP_001395405.1:p.Glu405Gly missense NM_001408478.1:c.1208A>G NP_001395407.1:p.Glu403Gly missense NM_001408479.1:c.1208A>G NP_001395408.1:p.Glu403Gly missense NM_001408480.1:c.1208A>G NP_001395409.1:p.Glu403Gly missense NM_001408481.1:c.1205A>G NP_001395410.1:p.Glu402Gly missense NM_001408482.1:c.1205A>G NP_001395411.1:p.Glu402Gly missense NM_001408483.1:c.1205A>G NP_001395412.1:p.Glu402Gly missense NM_001408484.1:c.1205A>G NP_001395413.1:p.Glu402Gly missense NM_001408485.1:c.1205A>G NP_001395414.1:p.Glu402Gly missense NM_001408489.1:c.1205A>G NP_001395418.1:p.Glu402Gly missense NM_001408490.1:c.1205A>G NP_001395419.1:p.Glu402Gly missense NM_001408491.1:c.1205A>G NP_001395420.1:p.Glu402Gly missense NM_001408492.1:c.1202A>G NP_001395421.1:p.Glu401Gly missense NM_001408493.1:c.1202A>G NP_001395422.1:p.Glu401Gly missense NM_001408494.1:c.1178A>G NP_001395423.1:p.Glu393Gly missense NM_001408495.1:c.1172A>G NP_001395424.1:p.Glu391Gly missense NM_001408496.1:c.1154A>G NP_001395425.1:p.Glu385Gly missense NM_001408497.1:c.1154A>G NP_001395426.1:p.Glu385Gly missense NM_001408498.1:c.1154A>G NP_001395427.1:p.Glu385Gly missense NM_001408499.1:c.1154A>G NP_001395428.1:p.Glu385Gly missense NM_001408500.1:c.1154A>G NP_001395429.1:p.Glu385Gly missense NM_001408501.1:c.1154A>G NP_001395430.1:p.Glu385Gly missense NM_001408502.1:c.1151A>G NP_001395431.1:p.Glu384Gly missense NM_001408503.1:c.1151A>G NP_001395432.1:p.Glu384Gly missense NM_001408504.1:c.1151A>G NP_001395433.1:p.Glu384Gly missense NM_001408505.1:c.1148A>G NP_001395434.1:p.Glu383Gly missense NM_001408506.1:c.1091A>G NP_001395435.1:p.Glu364Gly missense NM_001408507.1:c.1088A>G NP_001395436.1:p.Glu363Gly missense NM_001408508.1:c.1079A>G NP_001395437.1:p.Glu360Gly missense NM_001408509.1:c.1076A>G NP_001395438.1:p.Glu359Gly missense NM_001408510.1:c.1037A>G NP_001395439.1:p.Glu346Gly missense NM_001408511.1:c.1034A>G NP_001395440.1:p.Glu345Gly missense NM_001408512.1:c.914A>G NP_001395441.1:p.Glu305Gly missense NM_001408513.1:c.887A>G NP_001395442.1:p.Glu296Gly missense NM_007297.4:c.4586A>G NP_009228.2:p.Glu1529Gly missense NM_007298.4:c.1415A>G NP_009229.2:p.Glu472Gly missense NM_007299.4:c.1415A>G NP_009230.2:p.Glu472Gly missense NM_007300.4:c.4790A>G NP_009231.2:p.Glu1597Gly missense NM_007304.2:c.1415A>G NP_009235.2:p.Glu472Gly missense NR_027676.2:n.4904A>G non-coding transcript variant NC_000017.11:g.43071187T>C NC_000017.10:g.41223204T>C NG_005905.2:g.146797A>G LRG_292:g.146797A>G LRG_292t1:c.4727A>G LRG_292p1:p.Glu1576Gly - Protein change
- E1576G, E472G, E1597G, E1529G, E1422G, E1447G, E1464G, E1533G, E1571G, E1573G, E1596G, E305G, E346G, E360G, E393G, E401G, E403G, E424G, E425G, E432G, E433G, E471G, E473G, E494G, E1279G, E1449G, E1487G, E1488G, E1505G, E1532G, E1550G, E1574G, E359G, E364G, E428G, E430G, E446G, E495G, E1407G, E1448G, E1280G, E1463G, E1486G, E1504G, E1506G, E1527G, E1549G, E296G, E345G, E363G, E385G, E405G, E431G, E434G, E447G, E470G, E707G, E1465G, E1507G, E1509G, E1528G, E1534G, E1535G, E1548G, E1556G, E1557G, E1572G, E1575G, E1598G, E383G, E384G, E391G, E402G, E406G, E426G, E448G, E469G, E708G
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071186:T:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13041 | 14847 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
|
Jul 17, 2020 | RCV000213317.5 | |
| Uncertain significance (1) |
criteria provided, single submitter
|
Mar 24, 2023 | RCV003765415.2 |
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
(Jul 17, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000274952.5
First in ClinVar: May 29, 2016 Last updated: May 01, 2024 |
Comment:
The p.E1576G variant (also known as c.4727A>G), located in coding exon 14 of the BRCA1 gene, results from an A to G substitution at nucleotide … (more)
The p.E1576G variant (also known as c.4727A>G), located in coding exon 14 of the BRCA1 gene, results from an A to G substitution at nucleotide position 4727. The glutamic acid at codon 1576 is replaced by glycine, an amino acid with similar 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)
|
|
|
Uncertain significance
(Mar 24, 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: SCV004676839.1
First in ClinVar: Feb 28, 2024 Last updated: Feb 28, 2024 |
Comment:
This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this … (more)
This variant is not present in population databases (gnomAD no frequency). 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. 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. ClinVar contains an entry for this variant (Variation ID: 231185). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1576 of the BRCA1 protein (p.Glu1576Gly). (less)
|
Comment:
Comment:
This variant is not present in population databases (gnomAD no frequency). 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. 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. ClinVar contains an entry for this variant (Variation ID: 231185). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1576 of the BRCA1 protein (p.Glu1576Gly).
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.E1576G variant (also known as c.4727A>G), located in coding exon 14 of the BRCA1 gene, results from an A to G substitution at nucleotide position 4727. The glutamic acid at codon 1576 is replaced by glycine, an amino acid with similar 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.
Comment:
This variant is not present in population databases (gnomAD no frequency). 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. 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. ClinVar contains an entry for this variant (Variation ID: 231185). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1576 of the BRCA1 protein (p.Glu1576Gly).
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 rs876659007 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated 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.