ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5104A>G (p.Lys1702Glu)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.5104A>G (p.Lys1702Glu)
Variation ID: 867650 Accession: VCV000867650.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43063922 (GRCh38) [ NCBI UCSC ] 17: 41215939 (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 Apr 18, 2020 Apr 18, 2020 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5104A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys1702Glu missense NM_001407571.1:c.4891A>G NP_001394500.1:p.Lys1631Glu missense NM_001407581.1:c.5170A>G NP_001394510.1:p.Lys1724Glu missense NM_001407582.1:c.5170A>G NP_001394511.1:p.Lys1724Glu missense NM_001407583.1:c.5167A>G NP_001394512.1:p.Lys1723Glu missense NM_001407585.1:c.5167A>G NP_001394514.1:p.Lys1723Glu missense NM_001407587.1:c.5167A>G NP_001394516.1:p.Lys1723Glu missense NM_001407590.1:c.5164A>G NP_001394519.1:p.Lys1722Glu missense NM_001407591.1:c.5164A>G NP_001394520.1:p.Lys1722Glu missense NM_001407593.1:c.5104A>G NP_001394522.1:p.Lys1702Glu missense NM_001407594.1:c.5104A>G NP_001394523.1:p.Lys1702Glu missense NM_001407596.1:c.5104A>G NP_001394525.1:p.Lys1702Glu missense NM_001407597.1:c.5104A>G NP_001394526.1:p.Lys1702Glu missense NM_001407598.1:c.5104A>G NP_001394527.1:p.Lys1702Glu missense NM_001407602.1:c.5104A>G NP_001394531.1:p.Lys1702Glu missense NM_001407603.1:c.5104A>G NP_001394532.1:p.Lys1702Glu missense NM_001407605.1:c.5104A>G NP_001394534.1:p.Lys1702Glu missense NM_001407610.1:c.5101A>G NP_001394539.1:p.Lys1701Glu missense NM_001407611.1:c.5101A>G NP_001394540.1:p.Lys1701Glu missense NM_001407612.1:c.5101A>G NP_001394541.1:p.Lys1701Glu missense NM_001407613.1:c.5101A>G NP_001394542.1:p.Lys1701Glu missense NM_001407614.1:c.5101A>G NP_001394543.1:p.Lys1701Glu missense NM_001407615.1:c.5101A>G NP_001394544.1:p.Lys1701Glu missense NM_001407616.1:c.5101A>G NP_001394545.1:p.Lys1701Glu missense NM_001407617.1:c.5101A>G NP_001394546.1:p.Lys1701Glu missense NM_001407618.1:c.5101A>G NP_001394547.1:p.Lys1701Glu missense NM_001407619.1:c.5101A>G NP_001394548.1:p.Lys1701Glu missense NM_001407620.1:c.5101A>G NP_001394549.1:p.Lys1701Glu missense NM_001407621.1:c.5101A>G NP_001394550.1:p.Lys1701Glu missense NM_001407622.1:c.5101A>G NP_001394551.1:p.Lys1701Glu missense NM_001407623.1:c.5101A>G NP_001394552.1:p.Lys1701Glu missense NM_001407624.1:c.5101A>G NP_001394553.1:p.Lys1701Glu missense NM_001407625.1:c.5101A>G NP_001394554.1:p.Lys1701Glu missense NM_001407626.1:c.5101A>G NP_001394555.1:p.Lys1701Glu missense NM_001407627.1:c.5098A>G NP_001394556.1:p.Lys1700Glu missense NM_001407628.1:c.5098A>G NP_001394557.1:p.Lys1700Glu missense NM_001407629.1:c.5098A>G NP_001394558.1:p.Lys1700Glu missense NM_001407630.1:c.5098A>G NP_001394559.1:p.Lys1700Glu missense NM_001407631.1:c.5098A>G NP_001394560.1:p.Lys1700Glu missense NM_001407632.1:c.5098A>G NP_001394561.1:p.Lys1700Glu missense NM_001407633.1:c.5098A>G NP_001394562.1:p.Lys1700Glu missense NM_001407634.1:c.5098A>G NP_001394563.1:p.Lys1700Glu missense NM_001407635.1:c.5098A>G NP_001394564.1:p.Lys1700Glu missense NM_001407636.1:c.5098A>G NP_001394565.1:p.Lys1700Glu missense NM_001407637.1:c.5098A>G NP_001394566.1:p.Lys1700Glu missense NM_001407638.1:c.5098A>G NP_001394567.1:p.Lys1700Glu missense NM_001407639.1:c.5098A>G NP_001394568.1:p.Lys1700Glu missense NM_001407640.1:c.5098A>G NP_001394569.1:p.Lys1700Glu missense NM_001407641.1:c.5098A>G NP_001394570.1:p.Lys1700Glu missense NM_001407642.1:c.5098A>G NP_001394571.1:p.Lys1700Glu missense NM_001407644.1:c.5095A>G NP_001394573.1:p.Lys1699Glu missense NM_001407645.1:c.5095A>G NP_001394574.1:p.Lys1699Glu missense NM_001407646.1:c.5092A>G NP_001394575.1:p.Lys1698Glu missense NM_001407647.1:c.5089A>G NP_001394576.1:p.Lys1697Glu missense NM_001407648.1:c.5047A>G NP_001394577.1:p.Lys1683Glu missense NM_001407649.1:c.5044A>G NP_001394578.1:p.Lys1682Glu missense NM_001407653.1:c.5026A>G NP_001394582.1:p.Lys1676Glu missense NM_001407654.1:c.5026A>G NP_001394583.1:p.Lys1676Glu missense NM_001407655.1:c.5026A>G NP_001394584.1:p.Lys1676Glu missense NM_001407656.1:c.5023A>G NP_001394585.1:p.Lys1675Glu missense NM_001407657.1:c.5023A>G NP_001394586.1:p.Lys1675Glu missense NM_001407658.1:c.5023A>G NP_001394587.1:p.Lys1675Glu missense NM_001407659.1:c.5020A>G NP_001394588.1:p.Lys1674Glu missense NM_001407660.1:c.5020A>G NP_001394589.1:p.Lys1674Glu missense NM_001407661.1:c.5020A>G NP_001394590.1:p.Lys1674Glu missense NM_001407662.1:c.5020A>G NP_001394591.1:p.Lys1674Glu missense NM_001407663.1:c.5020A>G NP_001394592.1:p.Lys1674Glu missense NM_001407664.1:c.4981A>G NP_001394593.1:p.Lys1661Glu missense NM_001407665.1:c.4981A>G NP_001394594.1:p.Lys1661Glu missense NM_001407666.1:c.4981A>G NP_001394595.1:p.Lys1661Glu missense NM_001407667.1:c.4981A>G NP_001394596.1:p.Lys1661Glu missense NM_001407668.1:c.4981A>G NP_001394597.1:p.Lys1661Glu missense NM_001407669.1:c.4981A>G NP_001394598.1:p.Lys1661Glu missense NM_001407670.1:c.4978A>G NP_001394599.1:p.Lys1660Glu missense NM_001407671.1:c.4978A>G NP_001394600.1:p.Lys1660Glu missense NM_001407672.1:c.4978A>G NP_001394601.1:p.Lys1660Glu missense NM_001407673.1:c.4978A>G NP_001394602.1:p.Lys1660Glu missense NM_001407674.1:c.4978A>G NP_001394603.1:p.Lys1660Glu missense NM_001407675.1:c.4978A>G NP_001394604.1:p.Lys1660Glu missense NM_001407676.1:c.4978A>G NP_001394605.1:p.Lys1660Glu missense NM_001407677.1:c.4978A>G NP_001394606.1:p.Lys1660Glu missense NM_001407678.1:c.4978A>G NP_001394607.1:p.Lys1660Glu missense NM_001407679.1:c.4978A>G NP_001394608.1:p.Lys1660Glu missense NM_001407680.1:c.4978A>G NP_001394609.1:p.Lys1660Glu missense NM_001407681.1:c.4975A>G NP_001394610.1:p.Lys1659Glu missense NM_001407682.1:c.4975A>G NP_001394611.1:p.Lys1659Glu missense NM_001407683.1:c.4975A>G NP_001394612.1:p.Lys1659Glu missense NM_001407684.1:c.5104A>G NP_001394613.1:p.Lys1702Glu missense NM_001407685.1:c.4975A>G NP_001394614.1:p.Lys1659Glu missense NM_001407686.1:c.4975A>G NP_001394615.1:p.Lys1659Glu missense NM_001407687.1:c.4975A>G NP_001394616.1:p.Lys1659Glu missense NM_001407688.1:c.4975A>G NP_001394617.1:p.Lys1659Glu missense NM_001407689.1:c.4975A>G NP_001394618.1:p.Lys1659Glu missense NM_001407690.1:c.4972A>G NP_001394619.1:p.Lys1658Glu missense NM_001407691.1:c.4972A>G NP_001394620.1:p.Lys1658Glu missense NM_001407692.1:c.4963A>G NP_001394621.1:p.Lys1655Glu missense NM_001407694.1:c.4963A>G NP_001394623.1:p.Lys1655Glu missense NM_001407695.1:c.4963A>G NP_001394624.1:p.Lys1655Glu missense NM_001407696.1:c.4963A>G NP_001394625.1:p.Lys1655Glu missense NM_001407697.1:c.4963A>G NP_001394626.1:p.Lys1655Glu missense NM_001407698.1:c.4963A>G NP_001394627.1:p.Lys1655Glu missense NM_001407724.1:c.4963A>G NP_001394653.1:p.Lys1655Glu missense NM_001407725.1:c.4963A>G NP_001394654.1:p.Lys1655Glu missense NM_001407726.1:c.4963A>G NP_001394655.1:p.Lys1655Glu missense NM_001407727.1:c.4963A>G NP_001394656.1:p.Lys1655Glu missense NM_001407728.1:c.4963A>G NP_001394657.1:p.Lys1655Glu missense NM_001407729.1:c.4963A>G NP_001394658.1:p.Lys1655Glu missense NM_001407730.1:c.4963A>G NP_001394659.1:p.Lys1655Glu missense NM_001407731.1:c.4963A>G NP_001394660.1:p.Lys1655Glu missense NM_001407732.1:c.4960A>G NP_001394661.1:p.Lys1654Glu missense NM_001407733.1:c.4960A>G NP_001394662.1:p.Lys1654Glu missense NM_001407734.1:c.4960A>G NP_001394663.1:p.Lys1654Glu missense NM_001407735.1:c.4960A>G NP_001394664.1:p.Lys1654Glu missense NM_001407736.1:c.4960A>G NP_001394665.1:p.Lys1654Glu missense NM_001407737.1:c.4960A>G NP_001394666.1:p.Lys1654Glu missense NM_001407738.1:c.4960A>G NP_001394667.1:p.Lys1654Glu missense NM_001407739.1:c.4960A>G NP_001394668.1:p.Lys1654Glu missense NM_001407740.1:c.4960A>G NP_001394669.1:p.Lys1654Glu missense NM_001407741.1:c.4960A>G NP_001394670.1:p.Lys1654Glu missense NM_001407742.1:c.4960A>G NP_001394671.1:p.Lys1654Glu missense NM_001407743.1:c.4960A>G NP_001394672.1:p.Lys1654Glu missense NM_001407744.1:c.4960A>G NP_001394673.1:p.Lys1654Glu missense NM_001407745.1:c.4960A>G NP_001394674.1:p.Lys1654Glu missense NM_001407746.1:c.4960A>G NP_001394675.1:p.Lys1654Glu missense NM_001407747.1:c.4960A>G NP_001394676.1:p.Lys1654Glu missense NM_001407748.1:c.4960A>G NP_001394677.1:p.Lys1654Glu missense NM_001407749.1:c.4960A>G NP_001394678.1:p.Lys1654Glu missense NM_001407750.1:c.4960A>G NP_001394679.1:p.Lys1654Glu missense NM_001407751.1:c.4960A>G NP_001394680.1:p.Lys1654Glu missense NM_001407752.1:c.4960A>G NP_001394681.1:p.Lys1654Glu missense NM_001407838.1:c.4957A>G NP_001394767.1:p.Lys1653Glu missense NM_001407839.1:c.4957A>G NP_001394768.1:p.Lys1653Glu missense NM_001407841.1:c.4957A>G NP_001394770.1:p.Lys1653Glu missense NM_001407842.1:c.4957A>G NP_001394771.1:p.Lys1653Glu missense NM_001407843.1:c.4957A>G NP_001394772.1:p.Lys1653Glu missense NM_001407844.1:c.4957A>G NP_001394773.1:p.Lys1653Glu missense NM_001407845.1:c.4957A>G NP_001394774.1:p.Lys1653Glu missense NM_001407846.1:c.4957A>G NP_001394775.1:p.Lys1653Glu missense NM_001407847.1:c.4957A>G NP_001394776.1:p.Lys1653Glu missense NM_001407848.1:c.4957A>G NP_001394777.1:p.Lys1653Glu missense NM_001407849.1:c.4957A>G NP_001394778.1:p.Lys1653Glu missense NM_001407850.1:c.4957A>G NP_001394779.1:p.Lys1653Glu missense NM_001407851.1:c.4957A>G NP_001394780.1:p.Lys1653Glu missense NM_001407852.1:c.4957A>G NP_001394781.1:p.Lys1653Glu missense NM_001407853.1:c.4957A>G NP_001394782.1:p.Lys1653Glu missense NM_001407854.1:c.5104A>G NP_001394783.1:p.Lys1702Glu missense NM_001407858.1:c.5101A>G NP_001394787.1:p.Lys1701Glu missense NM_001407859.1:c.5101A>G NP_001394788.1:p.Lys1701Glu missense NM_001407860.1:c.5101A>G NP_001394789.1:p.Lys1701Glu missense NM_001407861.1:c.5098A>G NP_001394790.1:p.Lys1700Glu missense NM_001407862.1:c.4903A>G NP_001394791.1:p.Lys1635Glu missense NM_001407874.1:c.4897A>G NP_001394803.1:p.Lys1633Glu missense NM_001407875.1:c.4897A>G NP_001394804.1:p.Lys1633Glu missense NM_001407879.1:c.4894A>G NP_001394808.1:p.Lys1632Glu missense NM_001407881.1:c.4894A>G NP_001394810.1:p.Lys1632Glu missense NM_001407882.1:c.4894A>G NP_001394811.1:p.Lys1632Glu missense NM_001407884.1:c.4894A>G NP_001394813.1:p.Lys1632Glu missense NM_001407885.1:c.4894A>G NP_001394814.1:p.Lys1632Glu missense NM_001407886.1:c.4894A>G NP_001394815.1:p.Lys1632Glu missense NM_001407887.1:c.4894A>G NP_001394816.1:p.Lys1632Glu missense NM_001407889.1:c.4894A>G NP_001394818.1:p.Lys1632Glu missense NM_001407894.1:c.4891A>G NP_001394823.1:p.Lys1631Glu missense NM_001407895.1:c.4891A>G NP_001394824.1:p.Lys1631Glu missense NM_001407896.1:c.4891A>G NP_001394825.1:p.Lys1631Glu missense NM_001407897.1:c.4891A>G NP_001394826.1:p.Lys1631Glu missense NM_001407898.1:c.4891A>G NP_001394827.1:p.Lys1631Glu missense NM_001407899.1:c.4891A>G NP_001394828.1:p.Lys1631Glu missense NM_001407900.1:c.4891A>G NP_001394829.1:p.Lys1631Glu missense NM_001407902.1:c.4891A>G NP_001394831.1:p.Lys1631Glu missense NM_001407904.1:c.4891A>G NP_001394833.1:p.Lys1631Glu missense NM_001407906.1:c.4891A>G NP_001394835.1:p.Lys1631Glu missense NM_001407907.1:c.4891A>G NP_001394836.1:p.Lys1631Glu missense NM_001407908.1:c.4891A>G NP_001394837.1:p.Lys1631Glu missense NM_001407909.1:c.4891A>G NP_001394838.1:p.Lys1631Glu missense NM_001407910.1:c.4891A>G NP_001394839.1:p.Lys1631Glu missense NM_001407915.1:c.4888A>G NP_001394844.1:p.Lys1630Glu missense NM_001407916.1:c.4888A>G NP_001394845.1:p.Lys1630Glu missense NM_001407917.1:c.4888A>G NP_001394846.1:p.Lys1630Glu missense NM_001407918.1:c.4888A>G NP_001394847.1:p.Lys1630Glu missense NM_001407919.1:c.4981A>G NP_001394848.1:p.Lys1661Glu missense NM_001407920.1:c.4840A>G NP_001394849.1:p.Lys1614Glu missense NM_001407921.1:c.4840A>G NP_001394850.1:p.Lys1614Glu missense NM_001407922.1:c.4840A>G NP_001394851.1:p.Lys1614Glu missense NM_001407923.1:c.4840A>G NP_001394852.1:p.Lys1614Glu missense NM_001407924.1:c.4840A>G NP_001394853.1:p.Lys1614Glu missense NM_001407925.1:c.4840A>G NP_001394854.1:p.Lys1614Glu missense NM_001407926.1:c.4840A>G NP_001394855.1:p.Lys1614Glu missense NM_001407927.1:c.4837A>G NP_001394856.1:p.Lys1613Glu missense NM_001407928.1:c.4837A>G NP_001394857.1:p.Lys1613Glu missense NM_001407929.1:c.4837A>G NP_001394858.1:p.Lys1613Glu missense NM_001407930.1:c.4837A>G NP_001394859.1:p.Lys1613Glu missense NM_001407931.1:c.4837A>G NP_001394860.1:p.Lys1613Glu missense NM_001407932.1:c.4837A>G NP_001394861.1:p.Lys1613Glu missense NM_001407933.1:c.4837A>G NP_001394862.1:p.Lys1613Glu missense NM_001407934.1:c.4834A>G NP_001394863.1:p.Lys1612Glu missense NM_001407935.1:c.4834A>G NP_001394864.1:p.Lys1612Glu missense NM_001407936.1:c.4834A>G NP_001394865.1:p.Lys1612Glu missense NM_001407937.1:c.4981A>G NP_001394866.1:p.Lys1661Glu missense NM_001407938.1:c.4981A>G NP_001394867.1:p.Lys1661Glu missense NM_001407939.1:c.4978A>G NP_001394868.1:p.Lys1660Glu missense NM_001407940.1:c.4978A>G NP_001394869.1:p.Lys1660Glu missense NM_001407941.1:c.4975A>G NP_001394870.1:p.Lys1659Glu missense NM_001407942.1:c.4963A>G NP_001394871.1:p.Lys1655Glu missense NM_001407943.1:c.4960A>G NP_001394872.1:p.Lys1654Glu missense NM_001407944.1:c.4960A>G NP_001394873.1:p.Lys1654Glu missense NM_001407945.1:c.4960A>G NP_001394874.1:p.Lys1654Glu missense NM_001407946.1:c.4771A>G NP_001394875.1:p.Lys1591Glu missense NM_001407947.1:c.4771A>G NP_001394876.1:p.Lys1591Glu missense NM_001407948.1:c.4771A>G NP_001394877.1:p.Lys1591Glu missense NM_001407949.1:c.4771A>G NP_001394878.1:p.Lys1591Glu missense NM_001407950.1:c.4768A>G NP_001394879.1:p.Lys1590Glu missense NM_001407951.1:c.4768A>G NP_001394880.1:p.Lys1590Glu missense NM_001407952.1:c.4768A>G NP_001394881.1:p.Lys1590Glu missense NM_001407953.1:c.4768A>G NP_001394882.1:p.Lys1590Glu missense NM_001407954.1:c.4768A>G NP_001394883.1:p.Lys1590Glu missense NM_001407955.1:c.4768A>G NP_001394884.1:p.Lys1590Glu missense NM_001407956.1:c.4765A>G NP_001394885.1:p.Lys1589Glu missense NM_001407957.1:c.4765A>G NP_001394886.1:p.Lys1589Glu missense NM_001407958.1:c.4765A>G NP_001394887.1:p.Lys1589Glu missense NM_001407959.1:c.4723A>G NP_001394888.1:p.Lys1575Glu missense NM_001407960.1:c.4720A>G NP_001394889.1:p.Lys1574Glu missense NM_001407962.1:c.4720A>G NP_001394891.1:p.Lys1574Glu missense NM_001407963.1:c.4717A>G NP_001394892.1:p.Lys1573Glu missense NM_001407964.1:c.4642A>G NP_001394893.1:p.Lys1548Glu missense NM_001407965.1:c.4597A>G NP_001394894.1:p.Lys1533Glu missense NM_001407966.1:c.4216A>G NP_001394895.1:p.Lys1406Glu missense NM_001407967.1:c.4213A>G NP_001394896.1:p.Lys1405Glu missense NM_001407968.1:c.2500A>G NP_001394897.1:p.Lys834Glu missense NM_001407969.1:c.2497A>G NP_001394898.1:p.Lys833Glu missense NM_001407970.1:c.1861A>G NP_001394899.1:p.Lys621Glu missense NM_001407971.1:c.1861A>G NP_001394900.1:p.Lys621Glu missense NM_001407972.1:c.1858A>G NP_001394901.1:p.Lys620Glu missense NM_001407973.1:c.1795A>G NP_001394902.1:p.Lys599Glu missense NM_001407974.1:c.1795A>G NP_001394903.1:p.Lys599Glu missense NM_001407975.1:c.1795A>G NP_001394904.1:p.Lys599Glu missense NM_001407976.1:c.1795A>G NP_001394905.1:p.Lys599Glu missense NM_001407977.1:c.1795A>G NP_001394906.1:p.Lys599Glu missense NM_001407978.1:c.1795A>G NP_001394907.1:p.Lys599Glu missense NM_001407979.1:c.1792A>G NP_001394908.1:p.Lys598Glu missense NM_001407980.1:c.1792A>G NP_001394909.1:p.Lys598Glu missense NM_001407981.1:c.1792A>G NP_001394910.1:p.Lys598Glu missense NM_001407982.1:c.1792A>G NP_001394911.1:p.Lys598Glu missense NM_001407983.1:c.1792A>G NP_001394912.1:p.Lys598Glu missense NM_001407984.1:c.1792A>G NP_001394913.1:p.Lys598Glu missense NM_001407985.1:c.1792A>G NP_001394914.1:p.Lys598Glu missense NM_001407986.1:c.1792A>G NP_001394915.1:p.Lys598Glu missense NM_001407990.1:c.1792A>G NP_001394919.1:p.Lys598Glu missense NM_001407991.1:c.1792A>G NP_001394920.1:p.Lys598Glu missense NM_001407992.1:c.1792A>G NP_001394921.1:p.Lys598Glu missense NM_001407993.1:c.1792A>G NP_001394922.1:p.Lys598Glu missense NM_001408392.1:c.1789A>G NP_001395321.1:p.Lys597Glu missense NM_001408396.1:c.1789A>G NP_001395325.1:p.Lys597Glu missense NM_001408397.1:c.1789A>G NP_001395326.1:p.Lys597Glu missense NM_001408398.1:c.1789A>G NP_001395327.1:p.Lys597Glu missense NM_001408399.1:c.1789A>G NP_001395328.1:p.Lys597Glu missense NM_001408400.1:c.1789A>G NP_001395329.1:p.Lys597Glu missense NM_001408401.1:c.1789A>G NP_001395330.1:p.Lys597Glu missense NM_001408402.1:c.1789A>G NP_001395331.1:p.Lys597Glu missense NM_001408403.1:c.1789A>G NP_001395332.1:p.Lys597Glu missense NM_001408404.1:c.1789A>G NP_001395333.1:p.Lys597Glu missense NM_001408406.1:c.1786A>G NP_001395335.1:p.Lys596Glu missense NM_001408407.1:c.1786A>G NP_001395336.1:p.Lys596Glu missense NM_001408408.1:c.1786A>G NP_001395337.1:p.Lys596Glu missense NM_001408409.1:c.1783A>G NP_001395338.1:p.Lys595Glu missense NM_001408410.1:c.1720A>G NP_001395339.1:p.Lys574Glu missense NM_001408411.1:c.1717A>G NP_001395340.1:p.Lys573Glu missense NM_001408412.1:c.1714A>G NP_001395341.1:p.Lys572Glu missense NM_001408413.1:c.1714A>G NP_001395342.1:p.Lys572Glu missense NM_001408414.1:c.1714A>G NP_001395343.1:p.Lys572Glu missense NM_001408415.1:c.1714A>G NP_001395344.1:p.Lys572Glu missense NM_001408416.1:c.1714A>G NP_001395345.1:p.Lys572Glu missense NM_001408418.1:c.1678A>G NP_001395347.1:p.Lys560Glu missense NM_001408419.1:c.1678A>G NP_001395348.1:p.Lys560Glu missense NM_001408420.1:c.1678A>G NP_001395349.1:p.Lys560Glu missense NM_001408421.1:c.1675A>G NP_001395350.1:p.Lys559Glu missense NM_001408422.1:c.1675A>G NP_001395351.1:p.Lys559Glu missense NM_001408423.1:c.1675A>G NP_001395352.1:p.Lys559Glu missense NM_001408424.1:c.1675A>G NP_001395353.1:p.Lys559Glu missense NM_001408425.1:c.1672A>G NP_001395354.1:p.Lys558Glu missense NM_001408426.1:c.1672A>G NP_001395355.1:p.Lys558Glu missense NM_001408427.1:c.1672A>G NP_001395356.1:p.Lys558Glu missense NM_001408428.1:c.1672A>G NP_001395357.1:p.Lys558Glu missense NM_001408429.1:c.1672A>G NP_001395358.1:p.Lys558Glu missense NM_001408430.1:c.1672A>G NP_001395359.1:p.Lys558Glu missense NM_001408431.1:c.1672A>G NP_001395360.1:p.Lys558Glu missense NM_001408432.1:c.1669A>G NP_001395361.1:p.Lys557Glu missense NM_001408433.1:c.1669A>G NP_001395362.1:p.Lys557Glu missense NM_001408434.1:c.1669A>G NP_001395363.1:p.Lys557Glu missense NM_001408435.1:c.1669A>G NP_001395364.1:p.Lys557Glu missense NM_001408436.1:c.1669A>G NP_001395365.1:p.Lys557Glu missense NM_001408437.1:c.1669A>G NP_001395366.1:p.Lys557Glu missense NM_001408438.1:c.1669A>G NP_001395367.1:p.Lys557Glu missense NM_001408439.1:c.1669A>G NP_001395368.1:p.Lys557Glu missense NM_001408440.1:c.1669A>G NP_001395369.1:p.Lys557Glu missense NM_001408441.1:c.1669A>G NP_001395370.1:p.Lys557Glu missense NM_001408442.1:c.1669A>G NP_001395371.1:p.Lys557Glu missense NM_001408443.1:c.1669A>G NP_001395372.1:p.Lys557Glu missense NM_001408444.1:c.1669A>G NP_001395373.1:p.Lys557Glu missense NM_001408445.1:c.1666A>G NP_001395374.1:p.Lys556Glu missense NM_001408446.1:c.1666A>G NP_001395375.1:p.Lys556Glu missense NM_001408447.1:c.1666A>G NP_001395376.1:p.Lys556Glu missense NM_001408448.1:c.1666A>G NP_001395377.1:p.Lys556Glu missense NM_001408450.1:c.1666A>G NP_001395379.1:p.Lys556Glu missense NM_001408451.1:c.1660A>G NP_001395380.1:p.Lys554Glu missense NM_001408452.1:c.1654A>G NP_001395381.1:p.Lys552Glu missense NM_001408453.1:c.1654A>G NP_001395382.1:p.Lys552Glu missense NM_001408454.1:c.1654A>G NP_001395383.1:p.Lys552Glu missense NM_001408455.1:c.1654A>G NP_001395384.1:p.Lys552Glu missense NM_001408456.1:c.1654A>G NP_001395385.1:p.Lys552Glu missense NM_001408457.1:c.1654A>G NP_001395386.1:p.Lys552Glu missense NM_001408458.1:c.1651A>G NP_001395387.1:p.Lys551Glu missense NM_001408459.1:c.1651A>G NP_001395388.1:p.Lys551Glu missense NM_001408460.1:c.1651A>G NP_001395389.1:p.Lys551Glu missense NM_001408461.1:c.1651A>G NP_001395390.1:p.Lys551Glu missense NM_001408462.1:c.1651A>G NP_001395391.1:p.Lys551Glu missense NM_001408463.1:c.1651A>G NP_001395392.1:p.Lys551Glu missense NM_001408464.1:c.1651A>G NP_001395393.1:p.Lys551Glu missense NM_001408465.1:c.1651A>G NP_001395394.1:p.Lys551Glu missense NM_001408466.1:c.1651A>G NP_001395395.1:p.Lys551Glu missense NM_001408467.1:c.1651A>G NP_001395396.1:p.Lys551Glu missense NM_001408468.1:c.1648A>G NP_001395397.1:p.Lys550Glu missense NM_001408469.1:c.1648A>G NP_001395398.1:p.Lys550Glu missense NM_001408470.1:c.1648A>G NP_001395399.1:p.Lys550Glu missense NM_001408472.1:c.1792A>G NP_001395401.1:p.Lys598Glu missense NM_001408473.1:c.1789A>G NP_001395402.1:p.Lys597Glu missense NM_001408474.1:c.1594A>G NP_001395403.1:p.Lys532Glu missense NM_001408475.1:c.1591A>G NP_001395404.1:p.Lys531Glu missense NM_001408476.1:c.1591A>G NP_001395405.1:p.Lys531Glu missense NM_001408478.1:c.1585A>G NP_001395407.1:p.Lys529Glu missense NM_001408479.1:c.1585A>G NP_001395408.1:p.Lys529Glu missense NM_001408480.1:c.1585A>G NP_001395409.1:p.Lys529Glu missense NM_001408481.1:c.1582A>G NP_001395410.1:p.Lys528Glu missense NM_001408482.1:c.1582A>G NP_001395411.1:p.Lys528Glu missense NM_001408483.1:c.1582A>G NP_001395412.1:p.Lys528Glu missense NM_001408484.1:c.1582A>G NP_001395413.1:p.Lys528Glu missense NM_001408485.1:c.1582A>G NP_001395414.1:p.Lys528Glu missense NM_001408489.1:c.1582A>G NP_001395418.1:p.Lys528Glu missense NM_001408490.1:c.1582A>G NP_001395419.1:p.Lys528Glu missense NM_001408491.1:c.1582A>G NP_001395420.1:p.Lys528Glu missense NM_001408492.1:c.1579A>G NP_001395421.1:p.Lys527Glu missense NM_001408493.1:c.1579A>G NP_001395422.1:p.Lys527Glu missense NM_001408494.1:c.1555A>G NP_001395423.1:p.Lys519Glu missense NM_001408495.1:c.1549A>G NP_001395424.1:p.Lys517Glu missense NM_001408496.1:c.1531A>G NP_001395425.1:p.Lys511Glu missense NM_001408497.1:c.1531A>G NP_001395426.1:p.Lys511Glu missense NM_001408498.1:c.1531A>G NP_001395427.1:p.Lys511Glu missense NM_001408499.1:c.1531A>G NP_001395428.1:p.Lys511Glu missense NM_001408500.1:c.1531A>G NP_001395429.1:p.Lys511Glu missense NM_001408501.1:c.1531A>G NP_001395430.1:p.Lys511Glu missense NM_001408502.1:c.1528A>G NP_001395431.1:p.Lys510Glu missense NM_001408503.1:c.1528A>G NP_001395432.1:p.Lys510Glu missense NM_001408504.1:c.1528A>G NP_001395433.1:p.Lys510Glu missense NM_001408505.1:c.1525A>G NP_001395434.1:p.Lys509Glu missense NM_001408506.1:c.1468A>G NP_001395435.1:p.Lys490Glu missense NM_001408507.1:c.1465A>G NP_001395436.1:p.Lys489Glu missense NM_001408508.1:c.1456A>G NP_001395437.1:p.Lys486Glu missense NM_001408509.1:c.1453A>G NP_001395438.1:p.Lys485Glu missense NM_001408510.1:c.1414A>G NP_001395439.1:p.Lys472Glu missense NM_001408511.1:c.1411A>G NP_001395440.1:p.Lys471Glu missense NM_001408512.1:c.1291A>G NP_001395441.1:p.Lys431Glu missense NM_001408513.1:c.1264A>G NP_001395442.1:p.Lys422Glu missense NM_001408514.1:c.868A>G NP_001395443.1:p.Lys290Glu missense NM_007297.4:c.4963A>G NP_009228.2:p.Lys1655Glu missense NM_007298.4:c.1792A>G NP_009229.2:p.Lys598Glu missense NM_007299.4:c.1792A>G NP_009230.2:p.Lys598Glu missense NM_007300.4:c.5167A>G NP_009231.2:p.Lys1723Glu missense NM_007304.2:c.1792A>G NP_009235.2:p.Lys598Glu missense NR_027676.2:n.5281A>G non-coding transcript variant NC_000017.11:g.43063922T>C NC_000017.10:g.41215939T>C NG_005905.2:g.154062A>G LRG_292:g.154062A>G LRG_292t1:c.5104A>G LRG_292p1:p.Lys1702Glu - Protein change
- K1655E, K1702E, K1723E, K598E, K1533E, K1591E, K1612E, K1631E, K1632E, K1660E, K1675E, K1676E, K1698E, K422E, K431E, K528E, K529E, K531E, K550E, K560E, K574E, K595E, K596E, K833E, K834E, K1405E, K1573E, K1589E, K1699E, K1700E, K472E, K485E, K489E, K509E, K519E, K551E, K556E, K558E, K559E, K597E, K599E, K1406E, K1574E, K1590E, K1613E, K1630E, K1633E, K1653E, K1658E, K1674E, K1683E, K1701E, K1722E, K290E, K471E, K490E, K511E, K527E, K532E, K557E, K572E, K573E, K1548E, K1575E, K1614E, K1635E, K1654E, K1659E, K1661E, K1682E, K1697E, K1724E, K486E, K510E, K517E, K552E, K554E, K620E, K621E
- Other names
- -
- Canonical SPDI
- NC_000017.11:43063921:T:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
functionally_abnormal; Sequence Ontology [ SO:0002218]The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5104A>G, a MISSENSE variant, produced a function score of -2.02, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
-
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 |
13044 | 14850 | |
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. |
|---|---|---|---|---|
| not provided (1) |
no classification provided
|
- | RCV001076388.3 |
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. |
|
|---|---|---|---|---|---|
|
not provided
(-)
|
no classification provided
Method: in vitro
|
Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001242127.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-2.02024969395035
|
Germline Functional Evidence
| Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|---|---|---|---|---|
|
functionally_abnormal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001242127.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5104A>G, a MISSENSE variant, produced a function score of -2.02, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5104A>G, a MISSENSE variant, produced a function score of -2.02, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
|
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
| https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs2051925024 ...
HelpRecord last updated Oct 08, 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.