ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5113C>A (p.Leu1705Ile)
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
-
NM_007294.4(BRCA1):c.5113C>A (p.Leu1705Ile)
Variation ID: 867663 Accession: VCV000867663.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43063913 (GRCh38) [ NCBI UCSC ] 17: 41215930 (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.5113C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu1705Ile missense NM_001407571.1:c.4900C>A NP_001394500.1:p.Leu1634Ile missense NM_001407581.1:c.5179C>A NP_001394510.1:p.Leu1727Ile missense NM_001407582.1:c.5179C>A NP_001394511.1:p.Leu1727Ile missense NM_001407583.1:c.5176C>A NP_001394512.1:p.Leu1726Ile missense NM_001407585.1:c.5176C>A NP_001394514.1:p.Leu1726Ile missense NM_001407587.1:c.5176C>A NP_001394516.1:p.Leu1726Ile missense NM_001407590.1:c.5173C>A NP_001394519.1:p.Leu1725Ile missense NM_001407591.1:c.5173C>A NP_001394520.1:p.Leu1725Ile missense NM_001407593.1:c.5113C>A NP_001394522.1:p.Leu1705Ile missense NM_001407594.1:c.5113C>A NP_001394523.1:p.Leu1705Ile missense NM_001407596.1:c.5113C>A NP_001394525.1:p.Leu1705Ile missense NM_001407597.1:c.5113C>A NP_001394526.1:p.Leu1705Ile missense NM_001407598.1:c.5113C>A NP_001394527.1:p.Leu1705Ile missense NM_001407602.1:c.5113C>A NP_001394531.1:p.Leu1705Ile missense NM_001407603.1:c.5113C>A NP_001394532.1:p.Leu1705Ile missense NM_001407605.1:c.5113C>A NP_001394534.1:p.Leu1705Ile missense NM_001407610.1:c.5110C>A NP_001394539.1:p.Leu1704Ile missense NM_001407611.1:c.5110C>A NP_001394540.1:p.Leu1704Ile missense NM_001407612.1:c.5110C>A NP_001394541.1:p.Leu1704Ile missense NM_001407613.1:c.5110C>A NP_001394542.1:p.Leu1704Ile missense NM_001407614.1:c.5110C>A NP_001394543.1:p.Leu1704Ile missense NM_001407615.1:c.5110C>A NP_001394544.1:p.Leu1704Ile missense NM_001407616.1:c.5110C>A NP_001394545.1:p.Leu1704Ile missense NM_001407617.1:c.5110C>A NP_001394546.1:p.Leu1704Ile missense NM_001407618.1:c.5110C>A NP_001394547.1:p.Leu1704Ile missense NM_001407619.1:c.5110C>A NP_001394548.1:p.Leu1704Ile missense NM_001407620.1:c.5110C>A NP_001394549.1:p.Leu1704Ile missense NM_001407621.1:c.5110C>A NP_001394550.1:p.Leu1704Ile missense NM_001407622.1:c.5110C>A NP_001394551.1:p.Leu1704Ile missense NM_001407623.1:c.5110C>A NP_001394552.1:p.Leu1704Ile missense NM_001407624.1:c.5110C>A NP_001394553.1:p.Leu1704Ile missense NM_001407625.1:c.5110C>A NP_001394554.1:p.Leu1704Ile missense NM_001407626.1:c.5110C>A NP_001394555.1:p.Leu1704Ile missense NM_001407627.1:c.5107C>A NP_001394556.1:p.Leu1703Ile missense NM_001407628.1:c.5107C>A NP_001394557.1:p.Leu1703Ile missense NM_001407629.1:c.5107C>A NP_001394558.1:p.Leu1703Ile missense NM_001407630.1:c.5107C>A NP_001394559.1:p.Leu1703Ile missense NM_001407631.1:c.5107C>A NP_001394560.1:p.Leu1703Ile missense NM_001407632.1:c.5107C>A NP_001394561.1:p.Leu1703Ile missense NM_001407633.1:c.5107C>A NP_001394562.1:p.Leu1703Ile missense NM_001407634.1:c.5107C>A NP_001394563.1:p.Leu1703Ile missense NM_001407635.1:c.5107C>A NP_001394564.1:p.Leu1703Ile missense NM_001407636.1:c.5107C>A NP_001394565.1:p.Leu1703Ile missense NM_001407637.1:c.5107C>A NP_001394566.1:p.Leu1703Ile missense NM_001407638.1:c.5107C>A NP_001394567.1:p.Leu1703Ile missense NM_001407639.1:c.5107C>A NP_001394568.1:p.Leu1703Ile missense NM_001407640.1:c.5107C>A NP_001394569.1:p.Leu1703Ile missense NM_001407641.1:c.5107C>A NP_001394570.1:p.Leu1703Ile missense NM_001407642.1:c.5107C>A NP_001394571.1:p.Leu1703Ile missense NM_001407644.1:c.5104C>A NP_001394573.1:p.Leu1702Ile missense NM_001407645.1:c.5104C>A NP_001394574.1:p.Leu1702Ile missense NM_001407646.1:c.5101C>A NP_001394575.1:p.Leu1701Ile missense NM_001407647.1:c.5098C>A NP_001394576.1:p.Leu1700Ile missense NM_001407648.1:c.5056C>A NP_001394577.1:p.Leu1686Ile missense NM_001407649.1:c.5053C>A NP_001394578.1:p.Leu1685Ile missense NM_001407653.1:c.5035C>A NP_001394582.1:p.Leu1679Ile missense NM_001407654.1:c.5035C>A NP_001394583.1:p.Leu1679Ile missense NM_001407655.1:c.5035C>A NP_001394584.1:p.Leu1679Ile missense NM_001407656.1:c.5032C>A NP_001394585.1:p.Leu1678Ile missense NM_001407657.1:c.5032C>A NP_001394586.1:p.Leu1678Ile missense NM_001407658.1:c.5032C>A NP_001394587.1:p.Leu1678Ile missense NM_001407659.1:c.5029C>A NP_001394588.1:p.Leu1677Ile missense NM_001407660.1:c.5029C>A NP_001394589.1:p.Leu1677Ile missense NM_001407661.1:c.5029C>A NP_001394590.1:p.Leu1677Ile missense NM_001407662.1:c.5029C>A NP_001394591.1:p.Leu1677Ile missense NM_001407663.1:c.5029C>A NP_001394592.1:p.Leu1677Ile missense NM_001407664.1:c.4990C>A NP_001394593.1:p.Leu1664Ile missense NM_001407665.1:c.4990C>A NP_001394594.1:p.Leu1664Ile missense NM_001407666.1:c.4990C>A NP_001394595.1:p.Leu1664Ile missense NM_001407667.1:c.4990C>A NP_001394596.1:p.Leu1664Ile missense NM_001407668.1:c.4990C>A NP_001394597.1:p.Leu1664Ile missense NM_001407669.1:c.4990C>A NP_001394598.1:p.Leu1664Ile missense NM_001407670.1:c.4987C>A NP_001394599.1:p.Leu1663Ile missense NM_001407671.1:c.4987C>A NP_001394600.1:p.Leu1663Ile missense NM_001407672.1:c.4987C>A NP_001394601.1:p.Leu1663Ile missense NM_001407673.1:c.4987C>A NP_001394602.1:p.Leu1663Ile missense NM_001407674.1:c.4987C>A NP_001394603.1:p.Leu1663Ile missense NM_001407675.1:c.4987C>A NP_001394604.1:p.Leu1663Ile missense NM_001407676.1:c.4987C>A NP_001394605.1:p.Leu1663Ile missense NM_001407677.1:c.4987C>A NP_001394606.1:p.Leu1663Ile missense NM_001407678.1:c.4987C>A NP_001394607.1:p.Leu1663Ile missense NM_001407679.1:c.4987C>A NP_001394608.1:p.Leu1663Ile missense NM_001407680.1:c.4987C>A NP_001394609.1:p.Leu1663Ile missense NM_001407681.1:c.4984C>A NP_001394610.1:p.Leu1662Ile missense NM_001407682.1:c.4984C>A NP_001394611.1:p.Leu1662Ile missense NM_001407683.1:c.4984C>A NP_001394612.1:p.Leu1662Ile missense NM_001407684.1:c.5113C>A NP_001394613.1:p.Leu1705Ile missense NM_001407685.1:c.4984C>A NP_001394614.1:p.Leu1662Ile missense NM_001407686.1:c.4984C>A NP_001394615.1:p.Leu1662Ile missense NM_001407687.1:c.4984C>A NP_001394616.1:p.Leu1662Ile missense NM_001407688.1:c.4984C>A NP_001394617.1:p.Leu1662Ile missense NM_001407689.1:c.4984C>A NP_001394618.1:p.Leu1662Ile missense NM_001407690.1:c.4981C>A NP_001394619.1:p.Leu1661Ile missense NM_001407691.1:c.4981C>A NP_001394620.1:p.Leu1661Ile missense NM_001407692.1:c.4972C>A NP_001394621.1:p.Leu1658Ile missense NM_001407694.1:c.4972C>A NP_001394623.1:p.Leu1658Ile missense NM_001407695.1:c.4972C>A NP_001394624.1:p.Leu1658Ile missense NM_001407696.1:c.4972C>A NP_001394625.1:p.Leu1658Ile missense NM_001407697.1:c.4972C>A NP_001394626.1:p.Leu1658Ile missense NM_001407698.1:c.4972C>A NP_001394627.1:p.Leu1658Ile missense NM_001407724.1:c.4972C>A NP_001394653.1:p.Leu1658Ile missense NM_001407725.1:c.4972C>A NP_001394654.1:p.Leu1658Ile missense NM_001407726.1:c.4972C>A NP_001394655.1:p.Leu1658Ile missense NM_001407727.1:c.4972C>A NP_001394656.1:p.Leu1658Ile missense NM_001407728.1:c.4972C>A NP_001394657.1:p.Leu1658Ile missense NM_001407729.1:c.4972C>A NP_001394658.1:p.Leu1658Ile missense NM_001407730.1:c.4972C>A NP_001394659.1:p.Leu1658Ile missense NM_001407731.1:c.4972C>A NP_001394660.1:p.Leu1658Ile missense NM_001407732.1:c.4969C>A NP_001394661.1:p.Leu1657Ile missense NM_001407733.1:c.4969C>A NP_001394662.1:p.Leu1657Ile missense NM_001407734.1:c.4969C>A NP_001394663.1:p.Leu1657Ile missense NM_001407735.1:c.4969C>A NP_001394664.1:p.Leu1657Ile missense NM_001407736.1:c.4969C>A NP_001394665.1:p.Leu1657Ile missense NM_001407737.1:c.4969C>A NP_001394666.1:p.Leu1657Ile missense NM_001407738.1:c.4969C>A NP_001394667.1:p.Leu1657Ile missense NM_001407739.1:c.4969C>A NP_001394668.1:p.Leu1657Ile missense NM_001407740.1:c.4969C>A NP_001394669.1:p.Leu1657Ile missense NM_001407741.1:c.4969C>A NP_001394670.1:p.Leu1657Ile missense NM_001407742.1:c.4969C>A NP_001394671.1:p.Leu1657Ile missense NM_001407743.1:c.4969C>A NP_001394672.1:p.Leu1657Ile missense NM_001407744.1:c.4969C>A NP_001394673.1:p.Leu1657Ile missense NM_001407745.1:c.4969C>A NP_001394674.1:p.Leu1657Ile missense NM_001407746.1:c.4969C>A NP_001394675.1:p.Leu1657Ile missense NM_001407747.1:c.4969C>A NP_001394676.1:p.Leu1657Ile missense NM_001407748.1:c.4969C>A NP_001394677.1:p.Leu1657Ile missense NM_001407749.1:c.4969C>A NP_001394678.1:p.Leu1657Ile missense NM_001407750.1:c.4969C>A NP_001394679.1:p.Leu1657Ile missense NM_001407751.1:c.4969C>A NP_001394680.1:p.Leu1657Ile missense NM_001407752.1:c.4969C>A NP_001394681.1:p.Leu1657Ile missense NM_001407838.1:c.4966C>A NP_001394767.1:p.Leu1656Ile missense NM_001407839.1:c.4966C>A NP_001394768.1:p.Leu1656Ile missense NM_001407841.1:c.4966C>A NP_001394770.1:p.Leu1656Ile missense NM_001407842.1:c.4966C>A NP_001394771.1:p.Leu1656Ile missense NM_001407843.1:c.4966C>A NP_001394772.1:p.Leu1656Ile missense NM_001407844.1:c.4966C>A NP_001394773.1:p.Leu1656Ile missense NM_001407845.1:c.4966C>A NP_001394774.1:p.Leu1656Ile missense NM_001407846.1:c.4966C>A NP_001394775.1:p.Leu1656Ile missense NM_001407847.1:c.4966C>A NP_001394776.1:p.Leu1656Ile missense NM_001407848.1:c.4966C>A NP_001394777.1:p.Leu1656Ile missense NM_001407849.1:c.4966C>A NP_001394778.1:p.Leu1656Ile missense NM_001407850.1:c.4966C>A NP_001394779.1:p.Leu1656Ile missense NM_001407851.1:c.4966C>A NP_001394780.1:p.Leu1656Ile missense NM_001407852.1:c.4966C>A NP_001394781.1:p.Leu1656Ile missense NM_001407853.1:c.4966C>A NP_001394782.1:p.Leu1656Ile missense NM_001407854.1:c.5113C>A NP_001394783.1:p.Leu1705Ile missense NM_001407858.1:c.5110C>A NP_001394787.1:p.Leu1704Ile missense NM_001407859.1:c.5110C>A NP_001394788.1:p.Leu1704Ile missense NM_001407860.1:c.5110C>A NP_001394789.1:p.Leu1704Ile missense NM_001407861.1:c.5107C>A NP_001394790.1:p.Leu1703Ile missense NM_001407862.1:c.4912C>A NP_001394791.1:p.Leu1638Ile missense NM_001407874.1:c.4906C>A NP_001394803.1:p.Leu1636Ile missense NM_001407875.1:c.4906C>A NP_001394804.1:p.Leu1636Ile missense NM_001407879.1:c.4903C>A NP_001394808.1:p.Leu1635Ile missense NM_001407881.1:c.4903C>A NP_001394810.1:p.Leu1635Ile missense NM_001407882.1:c.4903C>A NP_001394811.1:p.Leu1635Ile missense NM_001407884.1:c.4903C>A NP_001394813.1:p.Leu1635Ile missense NM_001407885.1:c.4903C>A NP_001394814.1:p.Leu1635Ile missense NM_001407886.1:c.4903C>A NP_001394815.1:p.Leu1635Ile missense NM_001407887.1:c.4903C>A NP_001394816.1:p.Leu1635Ile missense NM_001407889.1:c.4903C>A NP_001394818.1:p.Leu1635Ile missense NM_001407894.1:c.4900C>A NP_001394823.1:p.Leu1634Ile missense NM_001407895.1:c.4900C>A NP_001394824.1:p.Leu1634Ile missense NM_001407896.1:c.4900C>A NP_001394825.1:p.Leu1634Ile missense NM_001407897.1:c.4900C>A NP_001394826.1:p.Leu1634Ile missense NM_001407898.1:c.4900C>A NP_001394827.1:p.Leu1634Ile missense NM_001407899.1:c.4900C>A NP_001394828.1:p.Leu1634Ile missense NM_001407900.1:c.4900C>A NP_001394829.1:p.Leu1634Ile missense NM_001407902.1:c.4900C>A NP_001394831.1:p.Leu1634Ile missense NM_001407904.1:c.4900C>A NP_001394833.1:p.Leu1634Ile missense NM_001407906.1:c.4900C>A NP_001394835.1:p.Leu1634Ile missense NM_001407907.1:c.4900C>A NP_001394836.1:p.Leu1634Ile missense NM_001407908.1:c.4900C>A NP_001394837.1:p.Leu1634Ile missense NM_001407909.1:c.4900C>A NP_001394838.1:p.Leu1634Ile missense NM_001407910.1:c.4900C>A NP_001394839.1:p.Leu1634Ile missense NM_001407915.1:c.4897C>A NP_001394844.1:p.Leu1633Ile missense NM_001407916.1:c.4897C>A NP_001394845.1:p.Leu1633Ile missense NM_001407917.1:c.4897C>A NP_001394846.1:p.Leu1633Ile missense NM_001407918.1:c.4897C>A NP_001394847.1:p.Leu1633Ile missense NM_001407919.1:c.4990C>A NP_001394848.1:p.Leu1664Ile missense NM_001407920.1:c.4849C>A NP_001394849.1:p.Leu1617Ile missense NM_001407921.1:c.4849C>A NP_001394850.1:p.Leu1617Ile missense NM_001407922.1:c.4849C>A NP_001394851.1:p.Leu1617Ile missense NM_001407923.1:c.4849C>A NP_001394852.1:p.Leu1617Ile missense NM_001407924.1:c.4849C>A NP_001394853.1:p.Leu1617Ile missense NM_001407925.1:c.4849C>A NP_001394854.1:p.Leu1617Ile missense NM_001407926.1:c.4849C>A NP_001394855.1:p.Leu1617Ile missense NM_001407927.1:c.4846C>A NP_001394856.1:p.Leu1616Ile missense NM_001407928.1:c.4846C>A NP_001394857.1:p.Leu1616Ile missense NM_001407929.1:c.4846C>A NP_001394858.1:p.Leu1616Ile missense NM_001407930.1:c.4846C>A NP_001394859.1:p.Leu1616Ile missense NM_001407931.1:c.4846C>A NP_001394860.1:p.Leu1616Ile missense NM_001407932.1:c.4846C>A NP_001394861.1:p.Leu1616Ile missense NM_001407933.1:c.4846C>A NP_001394862.1:p.Leu1616Ile missense NM_001407934.1:c.4843C>A NP_001394863.1:p.Leu1615Ile missense NM_001407935.1:c.4843C>A NP_001394864.1:p.Leu1615Ile missense NM_001407936.1:c.4843C>A NP_001394865.1:p.Leu1615Ile missense NM_001407937.1:c.4990C>A NP_001394866.1:p.Leu1664Ile missense NM_001407938.1:c.4990C>A NP_001394867.1:p.Leu1664Ile missense NM_001407939.1:c.4987C>A NP_001394868.1:p.Leu1663Ile missense NM_001407940.1:c.4987C>A NP_001394869.1:p.Leu1663Ile missense NM_001407941.1:c.4984C>A NP_001394870.1:p.Leu1662Ile missense NM_001407942.1:c.4972C>A NP_001394871.1:p.Leu1658Ile missense NM_001407943.1:c.4969C>A NP_001394872.1:p.Leu1657Ile missense NM_001407944.1:c.4969C>A NP_001394873.1:p.Leu1657Ile missense NM_001407945.1:c.4969C>A NP_001394874.1:p.Leu1657Ile missense NM_001407946.1:c.4780C>A NP_001394875.1:p.Leu1594Ile missense NM_001407947.1:c.4780C>A NP_001394876.1:p.Leu1594Ile missense NM_001407948.1:c.4780C>A NP_001394877.1:p.Leu1594Ile missense NM_001407949.1:c.4780C>A NP_001394878.1:p.Leu1594Ile missense NM_001407950.1:c.4777C>A NP_001394879.1:p.Leu1593Ile missense NM_001407951.1:c.4777C>A NP_001394880.1:p.Leu1593Ile missense NM_001407952.1:c.4777C>A NP_001394881.1:p.Leu1593Ile missense NM_001407953.1:c.4777C>A NP_001394882.1:p.Leu1593Ile missense NM_001407954.1:c.4777C>A NP_001394883.1:p.Leu1593Ile missense NM_001407955.1:c.4777C>A NP_001394884.1:p.Leu1593Ile missense NM_001407956.1:c.4774C>A NP_001394885.1:p.Leu1592Ile missense NM_001407957.1:c.4774C>A NP_001394886.1:p.Leu1592Ile missense NM_001407958.1:c.4774C>A NP_001394887.1:p.Leu1592Ile missense NM_001407959.1:c.4732C>A NP_001394888.1:p.Leu1578Ile missense NM_001407960.1:c.4729C>A NP_001394889.1:p.Leu1577Ile missense NM_001407962.1:c.4729C>A NP_001394891.1:p.Leu1577Ile missense NM_001407963.1:c.4726C>A NP_001394892.1:p.Leu1576Ile missense NM_001407964.1:c.4651C>A NP_001394893.1:p.Leu1551Ile missense NM_001407965.1:c.4606C>A NP_001394894.1:p.Leu1536Ile missense NM_001407966.1:c.4225C>A NP_001394895.1:p.Leu1409Ile missense NM_001407967.1:c.4222C>A NP_001394896.1:p.Leu1408Ile missense NM_001407968.1:c.2509C>A NP_001394897.1:p.Leu837Ile missense NM_001407969.1:c.2506C>A NP_001394898.1:p.Leu836Ile missense NM_001407970.1:c.1870C>A NP_001394899.1:p.Leu624Ile missense NM_001407971.1:c.1870C>A NP_001394900.1:p.Leu624Ile missense NM_001407972.1:c.1867C>A NP_001394901.1:p.Leu623Ile missense NM_001407973.1:c.1804C>A NP_001394902.1:p.Leu602Ile missense NM_001407974.1:c.1804C>A NP_001394903.1:p.Leu602Ile missense NM_001407975.1:c.1804C>A NP_001394904.1:p.Leu602Ile missense NM_001407976.1:c.1804C>A NP_001394905.1:p.Leu602Ile missense NM_001407977.1:c.1804C>A NP_001394906.1:p.Leu602Ile missense NM_001407978.1:c.1804C>A NP_001394907.1:p.Leu602Ile missense NM_001407979.1:c.1801C>A NP_001394908.1:p.Leu601Ile missense NM_001407980.1:c.1801C>A NP_001394909.1:p.Leu601Ile missense NM_001407981.1:c.1801C>A NP_001394910.1:p.Leu601Ile missense NM_001407982.1:c.1801C>A NP_001394911.1:p.Leu601Ile missense NM_001407983.1:c.1801C>A NP_001394912.1:p.Leu601Ile missense NM_001407984.1:c.1801C>A NP_001394913.1:p.Leu601Ile missense NM_001407985.1:c.1801C>A NP_001394914.1:p.Leu601Ile missense NM_001407986.1:c.1801C>A NP_001394915.1:p.Leu601Ile missense NM_001407990.1:c.1801C>A NP_001394919.1:p.Leu601Ile missense NM_001407991.1:c.1801C>A NP_001394920.1:p.Leu601Ile missense NM_001407992.1:c.1801C>A NP_001394921.1:p.Leu601Ile missense NM_001407993.1:c.1801C>A NP_001394922.1:p.Leu601Ile missense NM_001408392.1:c.1798C>A NP_001395321.1:p.Leu600Ile missense NM_001408396.1:c.1798C>A NP_001395325.1:p.Leu600Ile missense NM_001408397.1:c.1798C>A NP_001395326.1:p.Leu600Ile missense NM_001408398.1:c.1798C>A NP_001395327.1:p.Leu600Ile missense NM_001408399.1:c.1798C>A NP_001395328.1:p.Leu600Ile missense NM_001408400.1:c.1798C>A NP_001395329.1:p.Leu600Ile missense NM_001408401.1:c.1798C>A NP_001395330.1:p.Leu600Ile missense NM_001408402.1:c.1798C>A NP_001395331.1:p.Leu600Ile missense NM_001408403.1:c.1798C>A NP_001395332.1:p.Leu600Ile missense NM_001408404.1:c.1798C>A NP_001395333.1:p.Leu600Ile missense NM_001408406.1:c.1795C>A NP_001395335.1:p.Leu599Ile missense NM_001408407.1:c.1795C>A NP_001395336.1:p.Leu599Ile missense NM_001408408.1:c.1795C>A NP_001395337.1:p.Leu599Ile missense NM_001408409.1:c.1792C>A NP_001395338.1:p.Leu598Ile missense NM_001408410.1:c.1729C>A NP_001395339.1:p.Leu577Ile missense NM_001408411.1:c.1726C>A NP_001395340.1:p.Leu576Ile missense NM_001408412.1:c.1723C>A NP_001395341.1:p.Leu575Ile missense NM_001408413.1:c.1723C>A NP_001395342.1:p.Leu575Ile missense NM_001408414.1:c.1723C>A NP_001395343.1:p.Leu575Ile missense NM_001408415.1:c.1723C>A NP_001395344.1:p.Leu575Ile missense NM_001408416.1:c.1723C>A NP_001395345.1:p.Leu575Ile missense NM_001408418.1:c.1687C>A NP_001395347.1:p.Leu563Ile missense NM_001408419.1:c.1687C>A NP_001395348.1:p.Leu563Ile missense NM_001408420.1:c.1687C>A NP_001395349.1:p.Leu563Ile missense NM_001408421.1:c.1684C>A NP_001395350.1:p.Leu562Ile missense NM_001408422.1:c.1684C>A NP_001395351.1:p.Leu562Ile missense NM_001408423.1:c.1684C>A NP_001395352.1:p.Leu562Ile missense NM_001408424.1:c.1684C>A NP_001395353.1:p.Leu562Ile missense NM_001408425.1:c.1681C>A NP_001395354.1:p.Leu561Ile missense NM_001408426.1:c.1681C>A NP_001395355.1:p.Leu561Ile missense NM_001408427.1:c.1681C>A NP_001395356.1:p.Leu561Ile missense NM_001408428.1:c.1681C>A NP_001395357.1:p.Leu561Ile missense NM_001408429.1:c.1681C>A NP_001395358.1:p.Leu561Ile missense NM_001408430.1:c.1681C>A NP_001395359.1:p.Leu561Ile missense NM_001408431.1:c.1681C>A NP_001395360.1:p.Leu561Ile missense NM_001408432.1:c.1678C>A NP_001395361.1:p.Leu560Ile missense NM_001408433.1:c.1678C>A NP_001395362.1:p.Leu560Ile missense NM_001408434.1:c.1678C>A NP_001395363.1:p.Leu560Ile missense NM_001408435.1:c.1678C>A NP_001395364.1:p.Leu560Ile missense NM_001408436.1:c.1678C>A NP_001395365.1:p.Leu560Ile missense NM_001408437.1:c.1678C>A NP_001395366.1:p.Leu560Ile missense NM_001408438.1:c.1678C>A NP_001395367.1:p.Leu560Ile missense NM_001408439.1:c.1678C>A NP_001395368.1:p.Leu560Ile missense NM_001408440.1:c.1678C>A NP_001395369.1:p.Leu560Ile missense NM_001408441.1:c.1678C>A NP_001395370.1:p.Leu560Ile missense NM_001408442.1:c.1678C>A NP_001395371.1:p.Leu560Ile missense NM_001408443.1:c.1678C>A NP_001395372.1:p.Leu560Ile missense NM_001408444.1:c.1678C>A NP_001395373.1:p.Leu560Ile missense NM_001408445.1:c.1675C>A NP_001395374.1:p.Leu559Ile missense NM_001408446.1:c.1675C>A NP_001395375.1:p.Leu559Ile missense NM_001408447.1:c.1675C>A NP_001395376.1:p.Leu559Ile missense NM_001408448.1:c.1675C>A NP_001395377.1:p.Leu559Ile missense NM_001408450.1:c.1675C>A NP_001395379.1:p.Leu559Ile missense NM_001408451.1:c.1669C>A NP_001395380.1:p.Leu557Ile missense NM_001408452.1:c.1663C>A NP_001395381.1:p.Leu555Ile missense NM_001408453.1:c.1663C>A NP_001395382.1:p.Leu555Ile missense NM_001408454.1:c.1663C>A NP_001395383.1:p.Leu555Ile missense NM_001408455.1:c.1663C>A NP_001395384.1:p.Leu555Ile missense NM_001408456.1:c.1663C>A NP_001395385.1:p.Leu555Ile missense NM_001408457.1:c.1663C>A NP_001395386.1:p.Leu555Ile missense NM_001408458.1:c.1660C>A NP_001395387.1:p.Leu554Ile missense NM_001408459.1:c.1660C>A NP_001395388.1:p.Leu554Ile missense NM_001408460.1:c.1660C>A NP_001395389.1:p.Leu554Ile missense NM_001408461.1:c.1660C>A NP_001395390.1:p.Leu554Ile missense NM_001408462.1:c.1660C>A NP_001395391.1:p.Leu554Ile missense NM_001408463.1:c.1660C>A NP_001395392.1:p.Leu554Ile missense NM_001408464.1:c.1660C>A NP_001395393.1:p.Leu554Ile missense NM_001408465.1:c.1660C>A NP_001395394.1:p.Leu554Ile missense NM_001408466.1:c.1660C>A NP_001395395.1:p.Leu554Ile missense NM_001408467.1:c.1660C>A NP_001395396.1:p.Leu554Ile missense NM_001408468.1:c.1657C>A NP_001395397.1:p.Leu553Ile missense NM_001408469.1:c.1657C>A NP_001395398.1:p.Leu553Ile missense NM_001408470.1:c.1657C>A NP_001395399.1:p.Leu553Ile missense NM_001408472.1:c.1801C>A NP_001395401.1:p.Leu601Ile missense NM_001408473.1:c.1798C>A NP_001395402.1:p.Leu600Ile missense NM_001408474.1:c.1603C>A NP_001395403.1:p.Leu535Ile missense NM_001408475.1:c.1600C>A NP_001395404.1:p.Leu534Ile missense NM_001408476.1:c.1600C>A NP_001395405.1:p.Leu534Ile missense NM_001408478.1:c.1594C>A NP_001395407.1:p.Leu532Ile missense NM_001408479.1:c.1594C>A NP_001395408.1:p.Leu532Ile missense NM_001408480.1:c.1594C>A NP_001395409.1:p.Leu532Ile missense NM_001408481.1:c.1591C>A NP_001395410.1:p.Leu531Ile missense NM_001408482.1:c.1591C>A NP_001395411.1:p.Leu531Ile missense NM_001408483.1:c.1591C>A NP_001395412.1:p.Leu531Ile missense NM_001408484.1:c.1591C>A NP_001395413.1:p.Leu531Ile missense NM_001408485.1:c.1591C>A NP_001395414.1:p.Leu531Ile missense NM_001408489.1:c.1591C>A NP_001395418.1:p.Leu531Ile missense NM_001408490.1:c.1591C>A NP_001395419.1:p.Leu531Ile missense NM_001408491.1:c.1591C>A NP_001395420.1:p.Leu531Ile missense NM_001408492.1:c.1588C>A NP_001395421.1:p.Leu530Ile missense NM_001408493.1:c.1588C>A NP_001395422.1:p.Leu530Ile missense NM_001408494.1:c.1564C>A NP_001395423.1:p.Leu522Ile missense NM_001408495.1:c.1558C>A NP_001395424.1:p.Leu520Ile missense NM_001408496.1:c.1540C>A NP_001395425.1:p.Leu514Ile missense NM_001408497.1:c.1540C>A NP_001395426.1:p.Leu514Ile missense NM_001408498.1:c.1540C>A NP_001395427.1:p.Leu514Ile missense NM_001408499.1:c.1540C>A NP_001395428.1:p.Leu514Ile missense NM_001408500.1:c.1540C>A NP_001395429.1:p.Leu514Ile missense NM_001408501.1:c.1540C>A NP_001395430.1:p.Leu514Ile missense NM_001408502.1:c.1537C>A NP_001395431.1:p.Leu513Ile missense NM_001408503.1:c.1537C>A NP_001395432.1:p.Leu513Ile missense NM_001408504.1:c.1537C>A NP_001395433.1:p.Leu513Ile missense NM_001408505.1:c.1534C>A NP_001395434.1:p.Leu512Ile missense NM_001408506.1:c.1477C>A NP_001395435.1:p.Leu493Ile missense NM_001408507.1:c.1474C>A NP_001395436.1:p.Leu492Ile missense NM_001408508.1:c.1465C>A NP_001395437.1:p.Leu489Ile missense NM_001408509.1:c.1462C>A NP_001395438.1:p.Leu488Ile missense NM_001408510.1:c.1423C>A NP_001395439.1:p.Leu475Ile missense NM_001408511.1:c.1420C>A NP_001395440.1:p.Leu474Ile missense NM_001408512.1:c.1300C>A NP_001395441.1:p.Leu434Ile missense NM_001408513.1:c.1273C>A NP_001395442.1:p.Leu425Ile missense NM_001408514.1:c.877C>A NP_001395443.1:p.Leu293Ile missense NM_007297.4:c.4972C>A NP_009228.2:p.Leu1658Ile missense NM_007298.4:c.1801C>A NP_009229.2:p.Leu601Ile missense NM_007299.4:c.1801C>A NP_009230.2:p.Leu601Ile missense NM_007300.4:c.5176C>A NP_009231.2:p.Leu1726Ile missense NM_007304.2:c.1801C>A NP_009235.2:p.Leu601Ile missense NR_027676.2:n.5290C>A non-coding transcript variant NC_000017.11:g.43063913G>T NC_000017.10:g.41215930G>T NG_005905.2:g.154071C>A LRG_292:g.154071C>A LRG_292t1:c.5113C>A LRG_292p1:p.Leu1705Ile - Protein change
- L1705I, L1658I, L1726I, L601I, L1408I, L1577I, L1594I, L1616I, L1635I, L1656I, L1657I, L1661I, L1703I, L474I, L493I, L512I, L522I, L535I, L553I, L557I, L576I, L598I, L599I, L602I, L1536I, L1592I, L1633I, L1662I, L1677I, L1686I, L1701I, L434I, L488I, L492I, L513I, L514I, L530I, L554I, L560I, L600I, L624I, L1551I, L1615I, L1634I, L1636I, L1664I, L1678I, L1679I, L1702I, L1725I, L1727I, L293I, L425I, L475I, L489I, L520I, L532I, L534I, L555I, L559I, L561I, L562I, L563I, L577I, L1409I, L1576I, L1578I, L1593I, L1617I, L1638I, L1663I, L1685I, L1700I, L1704I, L531I, L575I, L623I, L836I, L837I
- Other names
- -
- Canonical SPDI
- NC_000017.11:43063912:G:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
functionally_normal; Sequence Ontology [ SO:0002219]The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5113C>A, a MISSENSE variant, produced a function score of -0.13, corresponding to a functional classification of FUNCTIONAL. 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
|
- | RCV001076404.3 |
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: SCV001242145.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:-0.134881303377917
|
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_normal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001242145.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5113C>A, a MISSENSE variant, produced a function score of -0.13, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5113C>A, a MISSENSE variant, produced a function score of -0.13, corresponding to a functional classification of FUNCTIONAL. 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 rs80356858 ...
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.