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. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 1560 of the BRCA1 protein (p.Gly1560Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4679G>A (p.Gly1560Glu)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(1)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4679G>A (p.Gly1560Glu)
Variation ID: 1518880 Accession: VCV001518880.7
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43071235 (GRCh38) [ NCBI UCSC ] 17: 41223252 (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 Mar 28, 2022 Feb 28, 2024 Mar 24, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4679G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gly1560Glu missense NM_001407571.1:c.4466G>A NP_001394500.1:p.Gly1489Glu missense NM_001407581.1:c.4745G>A NP_001394510.1:p.Gly1582Glu missense NM_001407582.1:c.4745G>A NP_001394511.1:p.Gly1582Glu missense NM_001407583.1:c.4742G>A NP_001394512.1:p.Gly1581Glu missense NM_001407585.1:c.4742G>A NP_001394514.1:p.Gly1581Glu missense NM_001407587.1:c.4742G>A NP_001394516.1:p.Gly1581Glu missense NM_001407590.1:c.4739G>A NP_001394519.1:p.Gly1580Glu missense NM_001407591.1:c.4739G>A NP_001394520.1:p.Gly1580Glu missense NM_001407593.1:c.4679G>A NP_001394522.1:p.Gly1560Glu missense NM_001407594.1:c.4679G>A NP_001394523.1:p.Gly1560Glu missense NM_001407596.1:c.4679G>A NP_001394525.1:p.Gly1560Glu missense NM_001407597.1:c.4679G>A NP_001394526.1:p.Gly1560Glu missense NM_001407598.1:c.4679G>A NP_001394527.1:p.Gly1560Glu missense NM_001407602.1:c.4679G>A NP_001394531.1:p.Gly1560Glu missense NM_001407603.1:c.4679G>A NP_001394532.1:p.Gly1560Glu missense NM_001407605.1:c.4679G>A NP_001394534.1:p.Gly1560Glu missense NM_001407610.1:c.4676G>A NP_001394539.1:p.Gly1559Glu missense NM_001407611.1:c.4676G>A NP_001394540.1:p.Gly1559Glu missense NM_001407612.1:c.4676G>A NP_001394541.1:p.Gly1559Glu missense NM_001407613.1:c.4676G>A NP_001394542.1:p.Gly1559Glu missense NM_001407614.1:c.4676G>A NP_001394543.1:p.Gly1559Glu missense NM_001407615.1:c.4676G>A NP_001394544.1:p.Gly1559Glu missense NM_001407616.1:c.4676G>A NP_001394545.1:p.Gly1559Glu missense NM_001407617.1:c.4676G>A NP_001394546.1:p.Gly1559Glu missense NM_001407618.1:c.4676G>A NP_001394547.1:p.Gly1559Glu missense NM_001407619.1:c.4676G>A NP_001394548.1:p.Gly1559Glu missense NM_001407620.1:c.4676G>A NP_001394549.1:p.Gly1559Glu missense NM_001407621.1:c.4676G>A NP_001394550.1:p.Gly1559Glu missense NM_001407622.1:c.4676G>A NP_001394551.1:p.Gly1559Glu missense NM_001407623.1:c.4676G>A NP_001394552.1:p.Gly1559Glu missense NM_001407624.1:c.4676G>A NP_001394553.1:p.Gly1559Glu missense NM_001407625.1:c.4676G>A NP_001394554.1:p.Gly1559Glu missense NM_001407626.1:c.4676G>A NP_001394555.1:p.Gly1559Glu missense NM_001407627.1:c.4673G>A NP_001394556.1:p.Gly1558Glu missense NM_001407628.1:c.4673G>A NP_001394557.1:p.Gly1558Glu missense NM_001407629.1:c.4673G>A NP_001394558.1:p.Gly1558Glu missense NM_001407630.1:c.4673G>A NP_001394559.1:p.Gly1558Glu missense NM_001407631.1:c.4673G>A NP_001394560.1:p.Gly1558Glu missense NM_001407632.1:c.4673G>A NP_001394561.1:p.Gly1558Glu missense NM_001407633.1:c.4673G>A NP_001394562.1:p.Gly1558Glu missense NM_001407634.1:c.4673G>A NP_001394563.1:p.Gly1558Glu missense NM_001407635.1:c.4673G>A NP_001394564.1:p.Gly1558Glu missense NM_001407636.1:c.4673G>A NP_001394565.1:p.Gly1558Glu missense NM_001407637.1:c.4673G>A NP_001394566.1:p.Gly1558Glu missense NM_001407638.1:c.4673G>A NP_001394567.1:p.Gly1558Glu missense NM_001407639.1:c.4673G>A NP_001394568.1:p.Gly1558Glu missense NM_001407640.1:c.4673G>A NP_001394569.1:p.Gly1558Glu missense NM_001407641.1:c.4673G>A NP_001394570.1:p.Gly1558Glu missense NM_001407642.1:c.4673G>A NP_001394571.1:p.Gly1558Glu missense NM_001407644.1:c.4670G>A NP_001394573.1:p.Gly1557Glu missense NM_001407645.1:c.4670G>A NP_001394574.1:p.Gly1557Glu missense NM_001407646.1:c.4667G>A NP_001394575.1:p.Gly1556Glu missense NM_001407647.1:c.4664G>A NP_001394576.1:p.Gly1555Glu missense NM_001407648.1:c.4622G>A NP_001394577.1:p.Gly1541Glu missense NM_001407649.1:c.4619G>A NP_001394578.1:p.Gly1540Glu missense NM_001407652.1:c.4679G>A NP_001394581.1:p.Gly1560Glu missense NM_001407653.1:c.4601G>A NP_001394582.1:p.Gly1534Glu missense NM_001407654.1:c.4601G>A NP_001394583.1:p.Gly1534Glu missense NM_001407655.1:c.4601G>A NP_001394584.1:p.Gly1534Glu missense NM_001407656.1:c.4598G>A NP_001394585.1:p.Gly1533Glu missense NM_001407657.1:c.4598G>A NP_001394586.1:p.Gly1533Glu missense NM_001407658.1:c.4598G>A NP_001394587.1:p.Gly1533Glu missense NM_001407659.1:c.4595G>A NP_001394588.1:p.Gly1532Glu missense NM_001407660.1:c.4595G>A NP_001394589.1:p.Gly1532Glu missense NM_001407661.1:c.4595G>A NP_001394590.1:p.Gly1532Glu missense NM_001407662.1:c.4595G>A NP_001394591.1:p.Gly1532Glu missense NM_001407663.1:c.4595G>A NP_001394592.1:p.Gly1532Glu missense NM_001407664.1:c.4556G>A NP_001394593.1:p.Gly1519Glu missense NM_001407665.1:c.4556G>A NP_001394594.1:p.Gly1519Glu missense NM_001407666.1:c.4556G>A NP_001394595.1:p.Gly1519Glu missense NM_001407667.1:c.4556G>A NP_001394596.1:p.Gly1519Glu missense NM_001407668.1:c.4556G>A NP_001394597.1:p.Gly1519Glu missense NM_001407669.1:c.4556G>A NP_001394598.1:p.Gly1519Glu missense NM_001407670.1:c.4553G>A NP_001394599.1:p.Gly1518Glu missense NM_001407671.1:c.4553G>A NP_001394600.1:p.Gly1518Glu missense NM_001407672.1:c.4553G>A NP_001394601.1:p.Gly1518Glu missense NM_001407673.1:c.4553G>A NP_001394602.1:p.Gly1518Glu missense NM_001407674.1:c.4553G>A NP_001394603.1:p.Gly1518Glu missense NM_001407675.1:c.4553G>A NP_001394604.1:p.Gly1518Glu missense NM_001407676.1:c.4553G>A NP_001394605.1:p.Gly1518Glu missense NM_001407677.1:c.4553G>A NP_001394606.1:p.Gly1518Glu missense NM_001407678.1:c.4553G>A NP_001394607.1:p.Gly1518Glu missense NM_001407679.1:c.4553G>A NP_001394608.1:p.Gly1518Glu missense NM_001407680.1:c.4553G>A NP_001394609.1:p.Gly1518Glu missense NM_001407681.1:c.4550G>A NP_001394610.1:p.Gly1517Glu missense NM_001407682.1:c.4550G>A NP_001394611.1:p.Gly1517Glu missense NM_001407683.1:c.4550G>A NP_001394612.1:p.Gly1517Glu missense NM_001407684.1:c.4679G>A NP_001394613.1:p.Gly1560Glu missense NM_001407685.1:c.4550G>A NP_001394614.1:p.Gly1517Glu missense NM_001407686.1:c.4550G>A NP_001394615.1:p.Gly1517Glu missense NM_001407687.1:c.4550G>A NP_001394616.1:p.Gly1517Glu missense NM_001407688.1:c.4550G>A NP_001394617.1:p.Gly1517Glu missense NM_001407689.1:c.4550G>A NP_001394618.1:p.Gly1517Glu missense NM_001407690.1:c.4547G>A NP_001394619.1:p.Gly1516Glu missense NM_001407691.1:c.4547G>A NP_001394620.1:p.Gly1516Glu missense NM_001407692.1:c.4538G>A NP_001394621.1:p.Gly1513Glu missense NM_001407694.1:c.4538G>A NP_001394623.1:p.Gly1513Glu missense NM_001407695.1:c.4538G>A NP_001394624.1:p.Gly1513Glu missense NM_001407696.1:c.4538G>A NP_001394625.1:p.Gly1513Glu missense NM_001407697.1:c.4538G>A NP_001394626.1:p.Gly1513Glu missense NM_001407698.1:c.4538G>A NP_001394627.1:p.Gly1513Glu missense NM_001407724.1:c.4538G>A NP_001394653.1:p.Gly1513Glu missense NM_001407725.1:c.4538G>A NP_001394654.1:p.Gly1513Glu missense NM_001407726.1:c.4538G>A NP_001394655.1:p.Gly1513Glu missense NM_001407727.1:c.4538G>A NP_001394656.1:p.Gly1513Glu missense NM_001407728.1:c.4538G>A NP_001394657.1:p.Gly1513Glu missense NM_001407729.1:c.4538G>A NP_001394658.1:p.Gly1513Glu missense NM_001407730.1:c.4538G>A NP_001394659.1:p.Gly1513Glu missense NM_001407731.1:c.4538G>A NP_001394660.1:p.Gly1513Glu missense NM_001407732.1:c.4535G>A NP_001394661.1:p.Gly1512Glu missense NM_001407733.1:c.4535G>A NP_001394662.1:p.Gly1512Glu missense NM_001407734.1:c.4535G>A NP_001394663.1:p.Gly1512Glu missense NM_001407735.1:c.4535G>A NP_001394664.1:p.Gly1512Glu missense NM_001407736.1:c.4535G>A NP_001394665.1:p.Gly1512Glu missense NM_001407737.1:c.4535G>A NP_001394666.1:p.Gly1512Glu missense NM_001407738.1:c.4535G>A NP_001394667.1:p.Gly1512Glu missense NM_001407739.1:c.4535G>A NP_001394668.1:p.Gly1512Glu missense NM_001407740.1:c.4535G>A NP_001394669.1:p.Gly1512Glu missense NM_001407741.1:c.4535G>A NP_001394670.1:p.Gly1512Glu missense NM_001407742.1:c.4535G>A NP_001394671.1:p.Gly1512Glu missense NM_001407743.1:c.4535G>A NP_001394672.1:p.Gly1512Glu missense NM_001407744.1:c.4535G>A NP_001394673.1:p.Gly1512Glu missense NM_001407745.1:c.4535G>A NP_001394674.1:p.Gly1512Glu missense NM_001407746.1:c.4535G>A NP_001394675.1:p.Gly1512Glu missense NM_001407747.1:c.4535G>A NP_001394676.1:p.Gly1512Glu missense NM_001407748.1:c.4535G>A NP_001394677.1:p.Gly1512Glu missense NM_001407749.1:c.4535G>A NP_001394678.1:p.Gly1512Glu missense NM_001407750.1:c.4535G>A NP_001394679.1:p.Gly1512Glu missense NM_001407751.1:c.4535G>A NP_001394680.1:p.Gly1512Glu missense NM_001407752.1:c.4535G>A NP_001394681.1:p.Gly1512Glu missense NM_001407838.1:c.4532G>A NP_001394767.1:p.Gly1511Glu missense NM_001407839.1:c.4532G>A NP_001394768.1:p.Gly1511Glu missense NM_001407841.1:c.4532G>A NP_001394770.1:p.Gly1511Glu missense NM_001407842.1:c.4532G>A NP_001394771.1:p.Gly1511Glu missense NM_001407843.1:c.4532G>A NP_001394772.1:p.Gly1511Glu missense NM_001407844.1:c.4532G>A NP_001394773.1:p.Gly1511Glu missense NM_001407845.1:c.4532G>A NP_001394774.1:p.Gly1511Glu missense NM_001407846.1:c.4532G>A NP_001394775.1:p.Gly1511Glu missense NM_001407847.1:c.4532G>A NP_001394776.1:p.Gly1511Glu missense NM_001407848.1:c.4532G>A NP_001394777.1:p.Gly1511Glu missense NM_001407849.1:c.4532G>A NP_001394778.1:p.Gly1511Glu missense NM_001407850.1:c.4532G>A NP_001394779.1:p.Gly1511Glu missense NM_001407851.1:c.4532G>A NP_001394780.1:p.Gly1511Glu missense NM_001407852.1:c.4532G>A NP_001394781.1:p.Gly1511Glu missense NM_001407853.1:c.4532G>A NP_001394782.1:p.Gly1511Glu missense NM_001407854.1:c.4679G>A NP_001394783.1:p.Gly1560Glu missense NM_001407858.1:c.4676G>A NP_001394787.1:p.Gly1559Glu missense NM_001407859.1:c.4676G>A NP_001394788.1:p.Gly1559Glu missense NM_001407860.1:c.4676G>A NP_001394789.1:p.Gly1559Glu missense NM_001407861.1:c.4673G>A NP_001394790.1:p.Gly1558Glu missense NM_001407862.1:c.4478G>A NP_001394791.1:p.Gly1493Glu missense NM_001407863.1:c.4553G>A NP_001394792.1:p.Gly1518Glu missense NM_001407874.1:c.4472G>A NP_001394803.1:p.Gly1491Glu missense NM_001407875.1:c.4472G>A NP_001394804.1:p.Gly1491Glu missense NM_001407879.1:c.4469G>A NP_001394808.1:p.Gly1490Glu missense NM_001407881.1:c.4469G>A NP_001394810.1:p.Gly1490Glu missense NM_001407882.1:c.4469G>A NP_001394811.1:p.Gly1490Glu missense NM_001407884.1:c.4469G>A NP_001394813.1:p.Gly1490Glu missense NM_001407885.1:c.4469G>A NP_001394814.1:p.Gly1490Glu missense NM_001407886.1:c.4469G>A NP_001394815.1:p.Gly1490Glu missense NM_001407887.1:c.4469G>A NP_001394816.1:p.Gly1490Glu missense NM_001407889.1:c.4469G>A NP_001394818.1:p.Gly1490Glu missense NM_001407894.1:c.4466G>A NP_001394823.1:p.Gly1489Glu missense NM_001407895.1:c.4466G>A NP_001394824.1:p.Gly1489Glu missense NM_001407896.1:c.4466G>A NP_001394825.1:p.Gly1489Glu missense NM_001407897.1:c.4466G>A NP_001394826.1:p.Gly1489Glu missense NM_001407898.1:c.4466G>A NP_001394827.1:p.Gly1489Glu missense NM_001407899.1:c.4466G>A NP_001394828.1:p.Gly1489Glu missense NM_001407900.1:c.4466G>A NP_001394829.1:p.Gly1489Glu missense NM_001407902.1:c.4466G>A NP_001394831.1:p.Gly1489Glu missense NM_001407904.1:c.4466G>A NP_001394833.1:p.Gly1489Glu missense NM_001407906.1:c.4466G>A NP_001394835.1:p.Gly1489Glu missense NM_001407907.1:c.4466G>A NP_001394836.1:p.Gly1489Glu missense NM_001407908.1:c.4466G>A NP_001394837.1:p.Gly1489Glu missense NM_001407909.1:c.4466G>A NP_001394838.1:p.Gly1489Glu missense NM_001407910.1:c.4466G>A NP_001394839.1:p.Gly1489Glu missense NM_001407915.1:c.4463G>A NP_001394844.1:p.Gly1488Glu missense NM_001407916.1:c.4463G>A NP_001394845.1:p.Gly1488Glu missense NM_001407917.1:c.4463G>A NP_001394846.1:p.Gly1488Glu missense NM_001407918.1:c.4463G>A NP_001394847.1:p.Gly1488Glu missense NM_001407919.1:c.4556G>A NP_001394848.1:p.Gly1519Glu missense NM_001407920.1:c.4415G>A NP_001394849.1:p.Gly1472Glu missense NM_001407921.1:c.4415G>A NP_001394850.1:p.Gly1472Glu missense NM_001407922.1:c.4415G>A NP_001394851.1:p.Gly1472Glu missense NM_001407923.1:c.4415G>A NP_001394852.1:p.Gly1472Glu missense NM_001407924.1:c.4415G>A NP_001394853.1:p.Gly1472Glu missense NM_001407925.1:c.4415G>A NP_001394854.1:p.Gly1472Glu missense NM_001407926.1:c.4415G>A NP_001394855.1:p.Gly1472Glu missense NM_001407927.1:c.4412G>A NP_001394856.1:p.Gly1471Glu missense NM_001407928.1:c.4412G>A NP_001394857.1:p.Gly1471Glu missense NM_001407929.1:c.4412G>A NP_001394858.1:p.Gly1471Glu missense NM_001407930.1:c.4412G>A NP_001394859.1:p.Gly1471Glu missense NM_001407931.1:c.4412G>A NP_001394860.1:p.Gly1471Glu missense NM_001407932.1:c.4412G>A NP_001394861.1:p.Gly1471Glu missense NM_001407933.1:c.4412G>A NP_001394862.1:p.Gly1471Glu missense NM_001407934.1:c.4409G>A NP_001394863.1:p.Gly1470Glu missense NM_001407935.1:c.4409G>A NP_001394864.1:p.Gly1470Glu missense NM_001407936.1:c.4409G>A NP_001394865.1:p.Gly1470Glu missense NM_001407937.1:c.4556G>A NP_001394866.1:p.Gly1519Glu missense NM_001407938.1:c.4556G>A NP_001394867.1:p.Gly1519Glu missense NM_001407939.1:c.4553G>A NP_001394868.1:p.Gly1518Glu missense NM_001407940.1:c.4553G>A NP_001394869.1:p.Gly1518Glu missense NM_001407941.1:c.4550G>A NP_001394870.1:p.Gly1517Glu missense NM_001407942.1:c.4538G>A NP_001394871.1:p.Gly1513Glu missense NM_001407943.1:c.4535G>A NP_001394872.1:p.Gly1512Glu missense NM_001407944.1:c.4535G>A NP_001394873.1:p.Gly1512Glu missense NM_001407945.1:c.4535G>A NP_001394874.1:p.Gly1512Glu missense NM_001407946.1:c.4346G>A NP_001394875.1:p.Gly1449Glu missense NM_001407947.1:c.4346G>A NP_001394876.1:p.Gly1449Glu missense NM_001407948.1:c.4346G>A NP_001394877.1:p.Gly1449Glu missense NM_001407949.1:c.4346G>A NP_001394878.1:p.Gly1449Glu missense NM_001407950.1:c.4343G>A NP_001394879.1:p.Gly1448Glu missense NM_001407951.1:c.4343G>A NP_001394880.1:p.Gly1448Glu missense NM_001407952.1:c.4343G>A NP_001394881.1:p.Gly1448Glu missense NM_001407953.1:c.4343G>A NP_001394882.1:p.Gly1448Glu missense NM_001407954.1:c.4343G>A NP_001394883.1:p.Gly1448Glu missense NM_001407955.1:c.4343G>A NP_001394884.1:p.Gly1448Glu missense NM_001407956.1:c.4340G>A NP_001394885.1:p.Gly1447Glu missense NM_001407957.1:c.4340G>A NP_001394886.1:p.Gly1447Glu missense NM_001407958.1:c.4340G>A NP_001394887.1:p.Gly1447Glu missense NM_001407959.1:c.4298G>A NP_001394888.1:p.Gly1433Glu missense NM_001407960.1:c.4295G>A NP_001394889.1:p.Gly1432Glu missense NM_001407962.1:c.4295G>A NP_001394891.1:p.Gly1432Glu missense NM_001407963.1:c.4292G>A NP_001394892.1:p.Gly1431Glu missense NM_001407964.1:c.4217G>A NP_001394893.1:p.Gly1406Glu missense NM_001407965.1:c.4172G>A NP_001394894.1:p.Gly1391Glu missense NM_001407966.1:c.3791G>A NP_001394895.1:p.Gly1264Glu missense NM_001407967.1:c.3788G>A NP_001394896.1:p.Gly1263Glu missense NM_001407968.1:c.2075G>A NP_001394897.1:p.Gly692Glu missense NM_001407969.1:c.2072G>A NP_001394898.1:p.Gly691Glu missense NM_001407970.1:c.1436G>A NP_001394899.1:p.Gly479Glu missense NM_001407971.1:c.1436G>A NP_001394900.1:p.Gly479Glu missense NM_001407972.1:c.1433G>A NP_001394901.1:p.Gly478Glu missense NM_001407973.1:c.1370G>A NP_001394902.1:p.Gly457Glu missense NM_001407974.1:c.1370G>A NP_001394903.1:p.Gly457Glu missense NM_001407975.1:c.1370G>A NP_001394904.1:p.Gly457Glu missense NM_001407976.1:c.1370G>A NP_001394905.1:p.Gly457Glu missense NM_001407977.1:c.1370G>A NP_001394906.1:p.Gly457Glu missense NM_001407978.1:c.1370G>A NP_001394907.1:p.Gly457Glu missense NM_001407979.1:c.1367G>A NP_001394908.1:p.Gly456Glu missense NM_001407980.1:c.1367G>A NP_001394909.1:p.Gly456Glu missense NM_001407981.1:c.1367G>A NP_001394910.1:p.Gly456Glu missense NM_001407982.1:c.1367G>A NP_001394911.1:p.Gly456Glu missense NM_001407983.1:c.1367G>A NP_001394912.1:p.Gly456Glu missense NM_001407984.1:c.1367G>A NP_001394913.1:p.Gly456Glu missense NM_001407985.1:c.1367G>A NP_001394914.1:p.Gly456Glu missense NM_001407986.1:c.1367G>A NP_001394915.1:p.Gly456Glu missense NM_001407990.1:c.1367G>A NP_001394919.1:p.Gly456Glu missense NM_001407991.1:c.1367G>A NP_001394920.1:p.Gly456Glu missense NM_001407992.1:c.1367G>A NP_001394921.1:p.Gly456Glu missense NM_001407993.1:c.1367G>A NP_001394922.1:p.Gly456Glu missense NM_001408392.1:c.1364G>A NP_001395321.1:p.Gly455Glu missense NM_001408396.1:c.1364G>A NP_001395325.1:p.Gly455Glu missense NM_001408397.1:c.1364G>A NP_001395326.1:p.Gly455Glu missense NM_001408398.1:c.1364G>A NP_001395327.1:p.Gly455Glu missense NM_001408399.1:c.1364G>A NP_001395328.1:p.Gly455Glu missense NM_001408400.1:c.1364G>A NP_001395329.1:p.Gly455Glu missense NM_001408401.1:c.1364G>A NP_001395330.1:p.Gly455Glu missense NM_001408402.1:c.1364G>A NP_001395331.1:p.Gly455Glu missense NM_001408403.1:c.1364G>A NP_001395332.1:p.Gly455Glu missense NM_001408404.1:c.1364G>A NP_001395333.1:p.Gly455Glu missense NM_001408406.1:c.1361G>A NP_001395335.1:p.Gly454Glu missense NM_001408407.1:c.1361G>A NP_001395336.1:p.Gly454Glu missense NM_001408408.1:c.1361G>A NP_001395337.1:p.Gly454Glu missense NM_001408409.1:c.1358G>A NP_001395338.1:p.Gly453Glu missense NM_001408410.1:c.1295G>A NP_001395339.1:p.Gly432Glu missense NM_001408411.1:c.1292G>A NP_001395340.1:p.Gly431Glu missense NM_001408412.1:c.1289G>A NP_001395341.1:p.Gly430Glu missense NM_001408413.1:c.1289G>A NP_001395342.1:p.Gly430Glu missense NM_001408414.1:c.1289G>A NP_001395343.1:p.Gly430Glu missense NM_001408415.1:c.1289G>A NP_001395344.1:p.Gly430Glu missense NM_001408416.1:c.1289G>A NP_001395345.1:p.Gly430Glu missense NM_001408418.1:c.1253G>A NP_001395347.1:p.Gly418Glu missense NM_001408419.1:c.1253G>A NP_001395348.1:p.Gly418Glu missense NM_001408420.1:c.1253G>A NP_001395349.1:p.Gly418Glu missense NM_001408421.1:c.1250G>A NP_001395350.1:p.Gly417Glu missense NM_001408422.1:c.1250G>A NP_001395351.1:p.Gly417Glu missense NM_001408423.1:c.1250G>A NP_001395352.1:p.Gly417Glu missense NM_001408424.1:c.1250G>A NP_001395353.1:p.Gly417Glu missense NM_001408425.1:c.1247G>A NP_001395354.1:p.Gly416Glu missense NM_001408426.1:c.1247G>A NP_001395355.1:p.Gly416Glu missense NM_001408427.1:c.1247G>A NP_001395356.1:p.Gly416Glu missense NM_001408428.1:c.1247G>A NP_001395357.1:p.Gly416Glu missense NM_001408429.1:c.1247G>A NP_001395358.1:p.Gly416Glu missense NM_001408430.1:c.1247G>A NP_001395359.1:p.Gly416Glu missense NM_001408431.1:c.1247G>A NP_001395360.1:p.Gly416Glu missense NM_001408432.1:c.1244G>A NP_001395361.1:p.Gly415Glu missense NM_001408433.1:c.1244G>A NP_001395362.1:p.Gly415Glu missense NM_001408434.1:c.1244G>A NP_001395363.1:p.Gly415Glu missense NM_001408435.1:c.1244G>A NP_001395364.1:p.Gly415Glu missense NM_001408436.1:c.1244G>A NP_001395365.1:p.Gly415Glu missense NM_001408437.1:c.1244G>A NP_001395366.1:p.Gly415Glu missense NM_001408438.1:c.1244G>A NP_001395367.1:p.Gly415Glu missense NM_001408439.1:c.1244G>A NP_001395368.1:p.Gly415Glu missense NM_001408440.1:c.1244G>A NP_001395369.1:p.Gly415Glu missense NM_001408441.1:c.1244G>A NP_001395370.1:p.Gly415Glu missense NM_001408442.1:c.1244G>A NP_001395371.1:p.Gly415Glu missense NM_001408443.1:c.1244G>A NP_001395372.1:p.Gly415Glu missense NM_001408444.1:c.1244G>A NP_001395373.1:p.Gly415Glu missense NM_001408445.1:c.1241G>A NP_001395374.1:p.Gly414Glu missense NM_001408446.1:c.1241G>A NP_001395375.1:p.Gly414Glu missense NM_001408447.1:c.1241G>A NP_001395376.1:p.Gly414Glu missense NM_001408448.1:c.1241G>A NP_001395377.1:p.Gly414Glu missense NM_001408450.1:c.1241G>A NP_001395379.1:p.Gly414Glu missense NM_001408451.1:c.1235G>A NP_001395380.1:p.Gly412Glu missense NM_001408452.1:c.1229G>A NP_001395381.1:p.Gly410Glu missense NM_001408453.1:c.1229G>A NP_001395382.1:p.Gly410Glu missense NM_001408454.1:c.1229G>A NP_001395383.1:p.Gly410Glu missense NM_001408455.1:c.1229G>A NP_001395384.1:p.Gly410Glu missense NM_001408456.1:c.1229G>A NP_001395385.1:p.Gly410Glu missense NM_001408457.1:c.1229G>A NP_001395386.1:p.Gly410Glu missense NM_001408458.1:c.1226G>A NP_001395387.1:p.Gly409Glu missense NM_001408459.1:c.1226G>A NP_001395388.1:p.Gly409Glu missense NM_001408460.1:c.1226G>A NP_001395389.1:p.Gly409Glu missense NM_001408461.1:c.1226G>A NP_001395390.1:p.Gly409Glu missense NM_001408462.1:c.1226G>A NP_001395391.1:p.Gly409Glu missense NM_001408463.1:c.1226G>A NP_001395392.1:p.Gly409Glu missense NM_001408464.1:c.1226G>A NP_001395393.1:p.Gly409Glu missense NM_001408465.1:c.1226G>A NP_001395394.1:p.Gly409Glu missense NM_001408466.1:c.1226G>A NP_001395395.1:p.Gly409Glu missense NM_001408467.1:c.1226G>A NP_001395396.1:p.Gly409Glu missense NM_001408468.1:c.1223G>A NP_001395397.1:p.Gly408Glu missense NM_001408469.1:c.1223G>A NP_001395398.1:p.Gly408Glu missense NM_001408470.1:c.1223G>A NP_001395399.1:p.Gly408Glu missense NM_001408472.1:c.1367G>A NP_001395401.1:p.Gly456Glu missense NM_001408473.1:c.1364G>A NP_001395402.1:p.Gly455Glu missense NM_001408474.1:c.1169G>A NP_001395403.1:p.Gly390Glu missense NM_001408475.1:c.1166G>A NP_001395404.1:p.Gly389Glu missense NM_001408476.1:c.1166G>A NP_001395405.1:p.Gly389Glu missense NM_001408478.1:c.1160G>A NP_001395407.1:p.Gly387Glu missense NM_001408479.1:c.1160G>A NP_001395408.1:p.Gly387Glu missense NM_001408480.1:c.1160G>A NP_001395409.1:p.Gly387Glu missense NM_001408481.1:c.1157G>A NP_001395410.1:p.Gly386Glu missense NM_001408482.1:c.1157G>A NP_001395411.1:p.Gly386Glu missense NM_001408483.1:c.1157G>A NP_001395412.1:p.Gly386Glu missense NM_001408484.1:c.1157G>A NP_001395413.1:p.Gly386Glu missense NM_001408485.1:c.1157G>A NP_001395414.1:p.Gly386Glu missense NM_001408489.1:c.1157G>A NP_001395418.1:p.Gly386Glu missense NM_001408490.1:c.1157G>A NP_001395419.1:p.Gly386Glu missense NM_001408491.1:c.1157G>A NP_001395420.1:p.Gly386Glu missense NM_001408492.1:c.1154G>A NP_001395421.1:p.Gly385Glu missense NM_001408493.1:c.1154G>A NP_001395422.1:p.Gly385Glu missense NM_001408494.1:c.1130G>A NP_001395423.1:p.Gly377Glu missense NM_001408495.1:c.1124G>A NP_001395424.1:p.Gly375Glu missense NM_001408496.1:c.1106G>A NP_001395425.1:p.Gly369Glu missense NM_001408497.1:c.1106G>A NP_001395426.1:p.Gly369Glu missense NM_001408498.1:c.1106G>A NP_001395427.1:p.Gly369Glu missense NM_001408499.1:c.1106G>A NP_001395428.1:p.Gly369Glu missense NM_001408500.1:c.1106G>A NP_001395429.1:p.Gly369Glu missense NM_001408501.1:c.1106G>A NP_001395430.1:p.Gly369Glu missense NM_001408502.1:c.1103G>A NP_001395431.1:p.Gly368Glu missense NM_001408503.1:c.1103G>A NP_001395432.1:p.Gly368Glu missense NM_001408504.1:c.1103G>A NP_001395433.1:p.Gly368Glu missense NM_001408505.1:c.1100G>A NP_001395434.1:p.Gly367Glu missense NM_001408506.1:c.1043G>A NP_001395435.1:p.Gly348Glu missense NM_001408507.1:c.1040G>A NP_001395436.1:p.Gly347Glu missense NM_001408508.1:c.1031G>A NP_001395437.1:p.Gly344Glu missense NM_001408509.1:c.1028G>A NP_001395438.1:p.Gly343Glu missense NM_001408510.1:c.989G>A NP_001395439.1:p.Gly330Glu missense NM_001408511.1:c.986G>A NP_001395440.1:p.Gly329Glu missense NM_001408512.1:c.866G>A NP_001395441.1:p.Gly289Glu missense NM_001408513.1:c.839G>A NP_001395442.1:p.Gly280Glu missense NM_007297.4:c.4538G>A NP_009228.2:p.Gly1513Glu missense NM_007298.4:c.1367G>A NP_009229.2:p.Gly456Glu missense NM_007299.4:c.1367G>A NP_009230.2:p.Gly456Glu missense NM_007300.4:c.4742G>A NP_009231.2:p.Gly1581Glu missense NM_007304.2:c.1367G>A NP_009235.2:p.Gly456Glu missense NR_027676.2:n.4856G>A non-coding transcript variant NC_000017.11:g.43071235C>T NC_000017.10:g.41223252C>T NG_005905.2:g.146749G>A LRG_292:g.146749G>A LRG_292t1:c.4679G>A LRG_292p1:p.Gly1560Glu - Protein change
- G1581E, G1513E, G1560E, G456E, G1447E, G1448E, G1493E, G1517E, G1534E, G1540E, G1558E, G1559E, G348E, G367E, G375E, G390E, G410E, G416E, G453E, G1263E, G1391E, G1431E, G1432E, G1488E, G1511E, G1512E, G1532E, G1533E, G1555E, G1556E, G1582E, G329E, G330E, G347E, G368E, G387E, G389E, G414E, G418E, G430E, G431E, G454E, G479E, G1433E, G1470E, G1491E, G1518E, G1519E, G1541E, G1580E, G280E, G289E, G344E, G369E, G408E, G409E, G412E, G415E, G432E, G478E, G692E, G1264E, G1406E, G1449E, G1471E, G1472E, G1489E, G1490E, G1516E, G1557E, G343E, G377E, G385E, G386E, G417E, G455E, G457E, G691E
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071234: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
|
Mar 24, 2021 | RCV002043580.7 |
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
(Mar 24, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV002316917.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 28, 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. 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. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 1560 of the BRCA1 protein (p.Gly1560Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. (less)
|
Comment:
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
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. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 1560 of the BRCA1 protein (p.Gly1560Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid.
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 rs564757581 ...
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.