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 affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 656 of the BRCA1 protein (p.Asn656Lys).
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1968C>G (p.Asn656Lys)
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.1968C>G (p.Asn656Lys)
Variation ID: 2760114 Accession: VCV002760114.1
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093563 (GRCh38) [ NCBI UCSC ] 17: 41245580 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Feb 14, 2024 Feb 14, 2024 Sep 11, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.1968C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asn656Lys missense NM_001407571.1:c.1755C>G NP_001394500.1:p.Asn585Lys missense NM_001407581.1:c.1968C>G NP_001394510.1:p.Asn656Lys missense NM_001407582.1:c.1968C>G NP_001394511.1:p.Asn656Lys missense NM_001407583.1:c.1968C>G NP_001394512.1:p.Asn656Lys missense NM_001407585.1:c.1968C>G NP_001394514.1:p.Asn656Lys missense NM_001407587.1:c.1965C>G NP_001394516.1:p.Asn655Lys missense NM_001407590.1:c.1965C>G NP_001394519.1:p.Asn655Lys missense NM_001407591.1:c.1965C>G NP_001394520.1:p.Asn655Lys missense NM_001407593.1:c.1968C>G NP_001394522.1:p.Asn656Lys missense NM_001407594.1:c.1968C>G NP_001394523.1:p.Asn656Lys missense NM_001407596.1:c.1968C>G NP_001394525.1:p.Asn656Lys missense NM_001407597.1:c.1968C>G NP_001394526.1:p.Asn656Lys missense NM_001407598.1:c.1968C>G NP_001394527.1:p.Asn656Lys missense NM_001407602.1:c.1968C>G NP_001394531.1:p.Asn656Lys missense NM_001407603.1:c.1968C>G NP_001394532.1:p.Asn656Lys missense NM_001407605.1:c.1968C>G NP_001394534.1:p.Asn656Lys missense NM_001407610.1:c.1965C>G NP_001394539.1:p.Asn655Lys missense NM_001407611.1:c.1965C>G NP_001394540.1:p.Asn655Lys missense NM_001407612.1:c.1965C>G NP_001394541.1:p.Asn655Lys missense NM_001407613.1:c.1965C>G NP_001394542.1:p.Asn655Lys missense NM_001407614.1:c.1965C>G NP_001394543.1:p.Asn655Lys missense NM_001407615.1:c.1965C>G NP_001394544.1:p.Asn655Lys missense NM_001407616.1:c.1968C>G NP_001394545.1:p.Asn656Lys missense NM_001407617.1:c.1968C>G NP_001394546.1:p.Asn656Lys missense NM_001407618.1:c.1968C>G NP_001394547.1:p.Asn656Lys missense NM_001407619.1:c.1968C>G NP_001394548.1:p.Asn656Lys missense NM_001407620.1:c.1968C>G NP_001394549.1:p.Asn656Lys missense NM_001407621.1:c.1968C>G NP_001394550.1:p.Asn656Lys missense NM_001407622.1:c.1968C>G NP_001394551.1:p.Asn656Lys missense NM_001407623.1:c.1968C>G NP_001394552.1:p.Asn656Lys missense NM_001407624.1:c.1968C>G NP_001394553.1:p.Asn656Lys missense NM_001407625.1:c.1968C>G NP_001394554.1:p.Asn656Lys missense NM_001407626.1:c.1968C>G NP_001394555.1:p.Asn656Lys missense NM_001407627.1:c.1965C>G NP_001394556.1:p.Asn655Lys missense NM_001407628.1:c.1965C>G NP_001394557.1:p.Asn655Lys missense NM_001407629.1:c.1965C>G NP_001394558.1:p.Asn655Lys missense NM_001407630.1:c.1965C>G NP_001394559.1:p.Asn655Lys missense NM_001407631.1:c.1965C>G NP_001394560.1:p.Asn655Lys missense NM_001407632.1:c.1965C>G NP_001394561.1:p.Asn655Lys missense NM_001407633.1:c.1965C>G NP_001394562.1:p.Asn655Lys missense NM_001407634.1:c.1965C>G NP_001394563.1:p.Asn655Lys missense NM_001407635.1:c.1965C>G NP_001394564.1:p.Asn655Lys missense NM_001407636.1:c.1965C>G NP_001394565.1:p.Asn655Lys missense NM_001407637.1:c.1965C>G NP_001394566.1:p.Asn655Lys missense NM_001407638.1:c.1965C>G NP_001394567.1:p.Asn655Lys missense NM_001407639.1:c.1968C>G NP_001394568.1:p.Asn656Lys missense NM_001407640.1:c.1968C>G NP_001394569.1:p.Asn656Lys missense NM_001407641.1:c.1968C>G NP_001394570.1:p.Asn656Lys missense NM_001407642.1:c.1968C>G NP_001394571.1:p.Asn656Lys missense NM_001407644.1:c.1965C>G NP_001394573.1:p.Asn655Lys missense NM_001407645.1:c.1965C>G NP_001394574.1:p.Asn655Lys missense NM_001407646.1:c.1959C>G NP_001394575.1:p.Asn653Lys missense NM_001407647.1:c.1959C>G NP_001394576.1:p.Asn653Lys missense NM_001407648.1:c.1845C>G NP_001394577.1:p.Asn615Lys missense NM_001407649.1:c.1842C>G NP_001394578.1:p.Asn614Lys missense NM_001407652.1:c.1968C>G NP_001394581.1:p.Asn656Lys missense NM_001407653.1:c.1890C>G NP_001394582.1:p.Asn630Lys missense NM_001407654.1:c.1890C>G NP_001394583.1:p.Asn630Lys missense NM_001407655.1:c.1890C>G NP_001394584.1:p.Asn630Lys missense NM_001407656.1:c.1890C>G NP_001394585.1:p.Asn630Lys missense NM_001407657.1:c.1890C>G NP_001394586.1:p.Asn630Lys missense NM_001407658.1:c.1890C>G NP_001394587.1:p.Asn630Lys missense NM_001407659.1:c.1887C>G NP_001394588.1:p.Asn629Lys missense NM_001407660.1:c.1887C>G NP_001394589.1:p.Asn629Lys missense NM_001407661.1:c.1887C>G NP_001394590.1:p.Asn629Lys missense NM_001407662.1:c.1887C>G NP_001394591.1:p.Asn629Lys missense NM_001407663.1:c.1890C>G NP_001394592.1:p.Asn630Lys missense NM_001407664.1:c.1845C>G NP_001394593.1:p.Asn615Lys missense NM_001407665.1:c.1845C>G NP_001394594.1:p.Asn615Lys missense NM_001407666.1:c.1845C>G NP_001394595.1:p.Asn615Lys missense NM_001407667.1:c.1845C>G NP_001394596.1:p.Asn615Lys missense NM_001407668.1:c.1845C>G NP_001394597.1:p.Asn615Lys missense NM_001407669.1:c.1845C>G NP_001394598.1:p.Asn615Lys missense NM_001407670.1:c.1842C>G NP_001394599.1:p.Asn614Lys missense NM_001407671.1:c.1842C>G NP_001394600.1:p.Asn614Lys missense NM_001407672.1:c.1842C>G NP_001394601.1:p.Asn614Lys missense NM_001407673.1:c.1842C>G NP_001394602.1:p.Asn614Lys missense NM_001407674.1:c.1845C>G NP_001394603.1:p.Asn615Lys missense NM_001407675.1:c.1845C>G NP_001394604.1:p.Asn615Lys missense NM_001407676.1:c.1845C>G NP_001394605.1:p.Asn615Lys missense NM_001407677.1:c.1845C>G NP_001394606.1:p.Asn615Lys missense NM_001407678.1:c.1845C>G NP_001394607.1:p.Asn615Lys missense NM_001407679.1:c.1845C>G NP_001394608.1:p.Asn615Lys missense NM_001407680.1:c.1845C>G NP_001394609.1:p.Asn615Lys missense NM_001407681.1:c.1845C>G NP_001394610.1:p.Asn615Lys missense NM_001407682.1:c.1845C>G NP_001394611.1:p.Asn615Lys missense NM_001407683.1:c.1845C>G NP_001394612.1:p.Asn615Lys missense NM_001407684.1:c.1968C>G NP_001394613.1:p.Asn656Lys missense NM_001407685.1:c.1842C>G NP_001394614.1:p.Asn614Lys missense NM_001407686.1:c.1842C>G NP_001394615.1:p.Asn614Lys missense NM_001407687.1:c.1842C>G NP_001394616.1:p.Asn614Lys missense NM_001407688.1:c.1842C>G NP_001394617.1:p.Asn614Lys missense NM_001407689.1:c.1842C>G NP_001394618.1:p.Asn614Lys missense NM_001407690.1:c.1842C>G NP_001394619.1:p.Asn614Lys missense NM_001407691.1:c.1842C>G NP_001394620.1:p.Asn614Lys missense NM_001407692.1:c.1827C>G NP_001394621.1:p.Asn609Lys missense NM_001407694.1:c.1827C>G NP_001394623.1:p.Asn609Lys missense NM_001407695.1:c.1827C>G NP_001394624.1:p.Asn609Lys missense NM_001407696.1:c.1827C>G NP_001394625.1:p.Asn609Lys missense NM_001407697.1:c.1827C>G NP_001394626.1:p.Asn609Lys missense NM_001407698.1:c.1827C>G NP_001394627.1:p.Asn609Lys missense NM_001407724.1:c.1827C>G NP_001394653.1:p.Asn609Lys missense NM_001407725.1:c.1827C>G NP_001394654.1:p.Asn609Lys missense NM_001407726.1:c.1827C>G NP_001394655.1:p.Asn609Lys missense NM_001407727.1:c.1827C>G NP_001394656.1:p.Asn609Lys missense NM_001407728.1:c.1827C>G NP_001394657.1:p.Asn609Lys missense NM_001407729.1:c.1827C>G NP_001394658.1:p.Asn609Lys missense NM_001407730.1:c.1827C>G NP_001394659.1:p.Asn609Lys missense NM_001407731.1:c.1827C>G NP_001394660.1:p.Asn609Lys missense NM_001407732.1:c.1827C>G NP_001394661.1:p.Asn609Lys missense NM_001407733.1:c.1827C>G NP_001394662.1:p.Asn609Lys missense NM_001407734.1:c.1827C>G NP_001394663.1:p.Asn609Lys missense NM_001407735.1:c.1827C>G NP_001394664.1:p.Asn609Lys missense NM_001407736.1:c.1827C>G NP_001394665.1:p.Asn609Lys missense NM_001407737.1:c.1827C>G NP_001394666.1:p.Asn609Lys missense NM_001407738.1:c.1827C>G NP_001394667.1:p.Asn609Lys missense NM_001407739.1:c.1827C>G NP_001394668.1:p.Asn609Lys missense NM_001407740.1:c.1824C>G NP_001394669.1:p.Asn608Lys missense NM_001407741.1:c.1824C>G NP_001394670.1:p.Asn608Lys missense NM_001407742.1:c.1824C>G NP_001394671.1:p.Asn608Lys missense NM_001407743.1:c.1824C>G NP_001394672.1:p.Asn608Lys missense NM_001407744.1:c.1824C>G NP_001394673.1:p.Asn608Lys missense NM_001407745.1:c.1824C>G NP_001394674.1:p.Asn608Lys missense NM_001407746.1:c.1824C>G NP_001394675.1:p.Asn608Lys missense NM_001407747.1:c.1824C>G NP_001394676.1:p.Asn608Lys missense NM_001407748.1:c.1824C>G NP_001394677.1:p.Asn608Lys missense NM_001407749.1:c.1824C>G NP_001394678.1:p.Asn608Lys missense NM_001407750.1:c.1827C>G NP_001394679.1:p.Asn609Lys missense NM_001407751.1:c.1827C>G NP_001394680.1:p.Asn609Lys missense NM_001407752.1:c.1827C>G NP_001394681.1:p.Asn609Lys missense NM_001407838.1:c.1824C>G NP_001394767.1:p.Asn608Lys missense NM_001407839.1:c.1824C>G NP_001394768.1:p.Asn608Lys missense NM_001407841.1:c.1824C>G NP_001394770.1:p.Asn608Lys missense NM_001407842.1:c.1824C>G NP_001394771.1:p.Asn608Lys missense NM_001407843.1:c.1824C>G NP_001394772.1:p.Asn608Lys missense NM_001407844.1:c.1824C>G NP_001394773.1:p.Asn608Lys missense NM_001407845.1:c.1824C>G NP_001394774.1:p.Asn608Lys missense NM_001407846.1:c.1824C>G NP_001394775.1:p.Asn608Lys missense NM_001407847.1:c.1824C>G NP_001394776.1:p.Asn608Lys missense NM_001407848.1:c.1824C>G NP_001394777.1:p.Asn608Lys missense NM_001407849.1:c.1824C>G NP_001394778.1:p.Asn608Lys missense NM_001407850.1:c.1827C>G NP_001394779.1:p.Asn609Lys missense NM_001407851.1:c.1827C>G NP_001394780.1:p.Asn609Lys missense NM_001407852.1:c.1827C>G NP_001394781.1:p.Asn609Lys missense NM_001407853.1:c.1755C>G NP_001394782.1:p.Asn585Lys missense NM_001407854.1:c.1968C>G NP_001394783.1:p.Asn656Lys missense NM_001407858.1:c.1968C>G NP_001394787.1:p.Asn656Lys missense NM_001407859.1:c.1968C>G NP_001394788.1:p.Asn656Lys missense NM_001407860.1:c.1965C>G NP_001394789.1:p.Asn655Lys missense NM_001407861.1:c.1965C>G NP_001394790.1:p.Asn655Lys missense NM_001407862.1:c.1767C>G NP_001394791.1:p.Asn589Lys missense NM_001407863.1:c.1845C>G NP_001394792.1:p.Asn615Lys missense NM_001407874.1:c.1764C>G NP_001394803.1:p.Asn588Lys missense NM_001407875.1:c.1764C>G NP_001394804.1:p.Asn588Lys missense NM_001407879.1:c.1758C>G NP_001394808.1:p.Asn586Lys missense NM_001407881.1:c.1758C>G NP_001394810.1:p.Asn586Lys missense NM_001407882.1:c.1758C>G NP_001394811.1:p.Asn586Lys missense NM_001407884.1:c.1758C>G NP_001394813.1:p.Asn586Lys missense NM_001407885.1:c.1758C>G NP_001394814.1:p.Asn586Lys missense NM_001407886.1:c.1758C>G NP_001394815.1:p.Asn586Lys missense NM_001407887.1:c.1758C>G NP_001394816.1:p.Asn586Lys missense NM_001407889.1:c.1758C>G NP_001394818.1:p.Asn586Lys missense NM_001407894.1:c.1755C>G NP_001394823.1:p.Asn585Lys missense NM_001407895.1:c.1755C>G NP_001394824.1:p.Asn585Lys missense NM_001407896.1:c.1755C>G NP_001394825.1:p.Asn585Lys missense NM_001407897.1:c.1755C>G NP_001394826.1:p.Asn585Lys missense NM_001407898.1:c.1755C>G NP_001394827.1:p.Asn585Lys missense NM_001407899.1:c.1755C>G NP_001394828.1:p.Asn585Lys missense NM_001407900.1:c.1758C>G NP_001394829.1:p.Asn586Lys missense NM_001407902.1:c.1758C>G NP_001394831.1:p.Asn586Lys missense NM_001407904.1:c.1758C>G NP_001394833.1:p.Asn586Lys missense NM_001407906.1:c.1758C>G NP_001394835.1:p.Asn586Lys missense NM_001407907.1:c.1758C>G NP_001394836.1:p.Asn586Lys missense NM_001407908.1:c.1758C>G NP_001394837.1:p.Asn586Lys missense NM_001407909.1:c.1758C>G NP_001394838.1:p.Asn586Lys missense NM_001407910.1:c.1758C>G NP_001394839.1:p.Asn586Lys missense NM_001407915.1:c.1755C>G NP_001394844.1:p.Asn585Lys missense NM_001407916.1:c.1755C>G NP_001394845.1:p.Asn585Lys missense NM_001407917.1:c.1755C>G NP_001394846.1:p.Asn585Lys missense NM_001407918.1:c.1755C>G NP_001394847.1:p.Asn585Lys missense NM_001407919.1:c.1845C>G NP_001394848.1:p.Asn615Lys missense NM_001407920.1:c.1704C>G NP_001394849.1:p.Asn568Lys missense NM_001407921.1:c.1704C>G NP_001394850.1:p.Asn568Lys missense NM_001407922.1:c.1704C>G NP_001394851.1:p.Asn568Lys missense NM_001407923.1:c.1704C>G NP_001394852.1:p.Asn568Lys missense NM_001407924.1:c.1704C>G NP_001394853.1:p.Asn568Lys missense NM_001407925.1:c.1704C>G NP_001394854.1:p.Asn568Lys missense NM_001407926.1:c.1704C>G NP_001394855.1:p.Asn568Lys missense NM_001407927.1:c.1704C>G NP_001394856.1:p.Asn568Lys missense NM_001407928.1:c.1704C>G NP_001394857.1:p.Asn568Lys missense NM_001407929.1:c.1704C>G NP_001394858.1:p.Asn568Lys missense NM_001407930.1:c.1701C>G NP_001394859.1:p.Asn567Lys missense NM_001407931.1:c.1701C>G NP_001394860.1:p.Asn567Lys missense NM_001407932.1:c.1701C>G NP_001394861.1:p.Asn567Lys missense NM_001407933.1:c.1704C>G NP_001394862.1:p.Asn568Lys missense NM_001407934.1:c.1701C>G NP_001394863.1:p.Asn567Lys missense NM_001407935.1:c.1704C>G NP_001394864.1:p.Asn568Lys missense NM_001407936.1:c.1701C>G NP_001394865.1:p.Asn567Lys missense NM_001407937.1:c.1845C>G NP_001394866.1:p.Asn615Lys missense NM_001407938.1:c.1845C>G NP_001394867.1:p.Asn615Lys missense NM_001407939.1:c.1845C>G NP_001394868.1:p.Asn615Lys missense NM_001407940.1:c.1842C>G NP_001394869.1:p.Asn614Lys missense NM_001407941.1:c.1842C>G NP_001394870.1:p.Asn614Lys missense NM_001407942.1:c.1827C>G NP_001394871.1:p.Asn609Lys missense NM_001407943.1:c.1824C>G NP_001394872.1:p.Asn608Lys missense NM_001407944.1:c.1827C>G NP_001394873.1:p.Asn609Lys missense NM_001407945.1:c.1827C>G NP_001394874.1:p.Asn609Lys missense NM_001407946.1:c.1635C>G NP_001394875.1:p.Asn545Lys missense NM_001407947.1:c.1635C>G NP_001394876.1:p.Asn545Lys missense NM_001407948.1:c.1635C>G NP_001394877.1:p.Asn545Lys missense NM_001407949.1:c.1635C>G NP_001394878.1:p.Asn545Lys missense NM_001407950.1:c.1635C>G NP_001394879.1:p.Asn545Lys missense NM_001407951.1:c.1635C>G NP_001394880.1:p.Asn545Lys missense NM_001407952.1:c.1635C>G NP_001394881.1:p.Asn545Lys missense NM_001407953.1:c.1635C>G NP_001394882.1:p.Asn545Lys missense NM_001407954.1:c.1632C>G NP_001394883.1:p.Asn544Lys missense NM_001407955.1:c.1632C>G NP_001394884.1:p.Asn544Lys missense NM_001407956.1:c.1632C>G NP_001394885.1:p.Asn544Lys missense NM_001407957.1:c.1635C>G NP_001394886.1:p.Asn545Lys missense NM_001407958.1:c.1632C>G NP_001394887.1:p.Asn544Lys missense NM_001407959.1:c.1587C>G NP_001394888.1:p.Asn529Lys missense NM_001407960.1:c.1587C>G NP_001394889.1:p.Asn529Lys missense NM_001407962.1:c.1584C>G NP_001394891.1:p.Asn528Lys missense NM_001407963.1:c.1587C>G NP_001394892.1:p.Asn529Lys missense NM_001407964.1:c.1824C>G NP_001394893.1:p.Asn608Lys missense NM_001407965.1:c.1464C>G NP_001394894.1:p.Asn488Lys missense NM_001407966.1:c.1080C>G NP_001394895.1:p.Asn360Lys missense NM_001407967.1:c.1080C>G NP_001394896.1:p.Asn360Lys missense NM_001407968.1:c.787+1181C>G intron variant NM_001407969.1:c.787+1181C>G intron variant NM_001407970.1:c.787+1181C>G intron variant NM_001407971.1:c.787+1181C>G intron variant NM_001407972.1:c.784+1181C>G intron variant NM_001407973.1:c.787+1181C>G intron variant NM_001407974.1:c.787+1181C>G intron variant NM_001407975.1:c.787+1181C>G intron variant NM_001407976.1:c.787+1181C>G intron variant NM_001407977.1:c.787+1181C>G intron variant NM_001407978.1:c.787+1181C>G intron variant NM_001407979.1:c.787+1181C>G intron variant NM_001407980.1:c.787+1181C>G intron variant NM_001407981.1:c.787+1181C>G intron variant NM_001407982.1:c.787+1181C>G intron variant NM_001407983.1:c.787+1181C>G intron variant NM_001407984.1:c.784+1181C>G intron variant NM_001407985.1:c.784+1181C>G intron variant NM_001407986.1:c.784+1181C>G intron variant NM_001407990.1:c.787+1181C>G intron variant NM_001407991.1:c.784+1181C>G intron variant NM_001407992.1:c.784+1181C>G intron variant NM_001407993.1:c.787+1181C>G intron variant NM_001408392.1:c.784+1181C>G intron variant NM_001408396.1:c.784+1181C>G intron variant NM_001408397.1:c.784+1181C>G intron variant NM_001408398.1:c.784+1181C>G intron variant NM_001408399.1:c.784+1181C>G intron variant NM_001408400.1:c.784+1181C>G intron variant NM_001408401.1:c.784+1181C>G intron variant NM_001408402.1:c.784+1181C>G intron variant NM_001408403.1:c.787+1181C>G intron variant NM_001408404.1:c.787+1181C>G intron variant NM_001408406.1:c.790+1178C>G intron variant NM_001408407.1:c.784+1181C>G intron variant NM_001408408.1:c.778+1181C>G intron variant NM_001408409.1:c.709+1181C>G intron variant NM_001408410.1:c.646+1181C>G intron variant NM_001408411.1:c.709+1181C>G intron variant NM_001408412.1:c.709+1181C>G intron variant NM_001408413.1:c.706+1181C>G intron variant NM_001408414.1:c.709+1181C>G intron variant NM_001408415.1:c.709+1181C>G intron variant NM_001408416.1:c.706+1181C>G intron variant NM_001408418.1:c.670+2283C>G intron variant NM_001408419.1:c.670+2283C>G intron variant NM_001408420.1:c.670+2283C>G intron variant NM_001408421.1:c.667+2283C>G intron variant NM_001408422.1:c.670+2283C>G intron variant NM_001408423.1:c.670+2283C>G intron variant NM_001408424.1:c.667+2283C>G intron variant NM_001408425.1:c.664+1181C>G intron variant NM_001408426.1:c.664+1181C>G intron variant NM_001408427.1:c.664+1181C>G intron variant NM_001408428.1:c.664+1181C>G intron variant NM_001408429.1:c.664+1181C>G intron variant NM_001408430.1:c.664+1181C>G intron variant NM_001408431.1:c.667+2283C>G intron variant NM_001408432.1:c.661+1181C>G intron variant NM_001408433.1:c.661+1181C>G intron variant NM_001408434.1:c.661+1181C>G intron variant NM_001408435.1:c.661+1181C>G intron variant NM_001408436.1:c.664+1181C>G intron variant NM_001408437.1:c.664+1181C>G intron variant NM_001408438.1:c.664+1181C>G intron variant NM_001408439.1:c.664+1181C>G intron variant NM_001408440.1:c.664+1181C>G intron variant NM_001408441.1:c.664+1181C>G intron variant NM_001408442.1:c.664+1181C>G intron variant NM_001408443.1:c.664+1181C>G intron variant NM_001408444.1:c.664+1181C>G intron variant NM_001408445.1:c.661+1181C>G intron variant NM_001408446.1:c.661+1181C>G intron variant NM_001408447.1:c.661+1181C>G intron variant NM_001408448.1:c.661+1181C>G intron variant NM_001408450.1:c.661+1181C>G intron variant NM_001408451.1:c.652+1181C>G intron variant NM_001408452.1:c.646+1181C>G intron variant NM_001408453.1:c.646+1181C>G intron variant NM_001408454.1:c.646+1181C>G intron variant NM_001408455.1:c.646+1181C>G intron variant NM_001408456.1:c.646+1181C>G intron variant NM_001408457.1:c.646+1181C>G intron variant NM_001408458.1:c.646+1181C>G intron variant NM_001408459.1:c.646+1181C>G intron variant NM_001408460.1:c.646+1181C>G intron variant NM_001408461.1:c.646+1181C>G intron variant NM_001408462.1:c.643+1181C>G intron variant NM_001408463.1:c.643+1181C>G intron variant NM_001408464.1:c.643+1181C>G intron variant NM_001408465.1:c.643+1181C>G intron variant NM_001408466.1:c.646+1181C>G intron variant NM_001408467.1:c.646+1181C>G intron variant NM_001408468.1:c.643+1181C>G intron variant NM_001408469.1:c.646+1181C>G intron variant NM_001408470.1:c.643+1181C>G intron variant NM_001408472.1:c.787+1181C>G intron variant NM_001408473.1:c.784+1181C>G intron variant NM_001408474.1:c.586+1181C>G intron variant NM_001408475.1:c.583+1181C>G intron variant NM_001408476.1:c.586+1181C>G intron variant NM_001408478.1:c.577+1181C>G intron variant NM_001408479.1:c.577+1181C>G intron variant NM_001408480.1:c.577+1181C>G intron variant NM_001408481.1:c.577+1181C>G intron variant NM_001408482.1:c.577+1181C>G intron variant NM_001408483.1:c.577+1181C>G intron variant NM_001408484.1:c.577+1181C>G intron variant NM_001408485.1:c.577+1181C>G intron variant NM_001408489.1:c.577+1181C>G intron variant NM_001408490.1:c.574+1181C>G intron variant NM_001408491.1:c.574+1181C>G intron variant NM_001408492.1:c.577+1181C>G intron variant NM_001408493.1:c.574+1181C>G intron variant NM_001408494.1:c.548-2531C>G intron variant NM_001408495.1:c.545-2531C>G intron variant NM_001408496.1:c.523+1181C>G intron variant NM_001408497.1:c.523+1181C>G intron variant NM_001408498.1:c.523+1181C>G intron variant NM_001408499.1:c.523+1181C>G intron variant NM_001408500.1:c.523+1181C>G intron variant NM_001408501.1:c.523+1181C>G intron variant NM_001408502.1:c.454+1181C>G intron variant NM_001408503.1:c.520+1181C>G intron variant NM_001408504.1:c.520+1181C>G intron variant NM_001408505.1:c.520+1181C>G intron variant NM_001408506.1:c.460+2283C>G intron variant NM_001408507.1:c.460+2283C>G intron variant NM_001408508.1:c.451+1181C>G intron variant NM_001408509.1:c.451+1181C>G intron variant NM_001408510.1:c.406+1181C>G intron variant NM_001408511.1:c.404-2531C>G intron variant NM_001408512.1:c.283+1181C>G intron variant NM_001408513.1:c.577+1181C>G intron variant NM_001408514.1:c.577+1181C>G intron variant NM_007297.4:c.1827C>G NP_009228.2:p.Asn609Lys missense NM_007298.4:c.787+1181C>G intron variant NM_007299.4:c.787+1181C>G intron variant NM_007300.4:c.1968C>G NP_009231.2:p.Asn656Lys missense NR_027676.2:n.2145C>G NC_000017.11:g.43093563G>C NC_000017.10:g.41245580G>C NG_005905.2:g.124421C>G LRG_292:g.124421C>G LRG_292t1:c.1968C>G LRG_292p1:p.Asn656Lys - Protein change
- N528K, N568K, N609K, N615K, N529K, N545K, N589K, N653K, N360K, N567K, N585K, N588K, N614K, N630K, N656K, N488K, N544K, N586K, N608K, N629K, N655K
- Other names
- -
- Canonical SPDI
- NC_000017.11:43093562:G:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- 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. |
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| 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
|
Sep 11, 2023 | RCV003531319.2 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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|---|---|---|---|---|---|
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Uncertain significance
(Sep 11, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV004326965.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 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 affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 656 of the BRCA1 protein (p.Asn656Lys). (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 affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 656 of the BRCA1 protein (p.Asn656Lys).
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Sep 30, 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.