ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5153G>T (p.Trp1718Leu)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(2)
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
2
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5153G>T (p.Trp1718Leu)
Variation ID: 632609 Accession: VCV000632609.4
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43063373 (GRCh38) [ NCBI UCSC ] 17: 41215390 (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 Sep 1, 2019 Apr 18, 2020 Mar 1, 2019 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5153G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Trp1718Leu missense NM_001407571.1:c.4940G>T NP_001394500.1:p.Trp1647Leu missense NM_001407581.1:c.5219G>T NP_001394510.1:p.Trp1740Leu missense NM_001407582.1:c.5219G>T NP_001394511.1:p.Trp1740Leu missense NM_001407583.1:c.5216G>T NP_001394512.1:p.Trp1739Leu missense NM_001407585.1:c.5216G>T NP_001394514.1:p.Trp1739Leu missense NM_001407587.1:c.5216G>T NP_001394516.1:p.Trp1739Leu missense NM_001407590.1:c.5213G>T NP_001394519.1:p.Trp1738Leu missense NM_001407591.1:c.5213G>T NP_001394520.1:p.Trp1738Leu missense NM_001407593.1:c.5153G>T NP_001394522.1:p.Trp1718Leu missense NM_001407594.1:c.5153G>T NP_001394523.1:p.Trp1718Leu missense NM_001407596.1:c.5153G>T NP_001394525.1:p.Trp1718Leu missense NM_001407597.1:c.5153G>T NP_001394526.1:p.Trp1718Leu missense NM_001407598.1:c.5153G>T NP_001394527.1:p.Trp1718Leu missense NM_001407602.1:c.5153G>T NP_001394531.1:p.Trp1718Leu missense NM_001407603.1:c.5153G>T NP_001394532.1:p.Trp1718Leu missense NM_001407605.1:c.5153G>T NP_001394534.1:p.Trp1718Leu missense NM_001407610.1:c.5150G>T NP_001394539.1:p.Trp1717Leu missense NM_001407611.1:c.5150G>T NP_001394540.1:p.Trp1717Leu missense NM_001407612.1:c.5150G>T NP_001394541.1:p.Trp1717Leu missense NM_001407613.1:c.5150G>T NP_001394542.1:p.Trp1717Leu missense NM_001407614.1:c.5150G>T NP_001394543.1:p.Trp1717Leu missense NM_001407615.1:c.5150G>T NP_001394544.1:p.Trp1717Leu missense NM_001407616.1:c.5150G>T NP_001394545.1:p.Trp1717Leu missense NM_001407617.1:c.5150G>T NP_001394546.1:p.Trp1717Leu missense NM_001407618.1:c.5150G>T NP_001394547.1:p.Trp1717Leu missense NM_001407619.1:c.5150G>T NP_001394548.1:p.Trp1717Leu missense NM_001407620.1:c.5150G>T NP_001394549.1:p.Trp1717Leu missense NM_001407621.1:c.5150G>T NP_001394550.1:p.Trp1717Leu missense NM_001407622.1:c.5150G>T NP_001394551.1:p.Trp1717Leu missense NM_001407623.1:c.5150G>T NP_001394552.1:p.Trp1717Leu missense NM_001407624.1:c.5150G>T NP_001394553.1:p.Trp1717Leu missense NM_001407625.1:c.5150G>T NP_001394554.1:p.Trp1717Leu missense NM_001407626.1:c.5150G>T NP_001394555.1:p.Trp1717Leu missense NM_001407627.1:c.5147G>T NP_001394556.1:p.Trp1716Leu missense NM_001407628.1:c.5147G>T NP_001394557.1:p.Trp1716Leu missense NM_001407629.1:c.5147G>T NP_001394558.1:p.Trp1716Leu missense NM_001407630.1:c.5147G>T NP_001394559.1:p.Trp1716Leu missense NM_001407631.1:c.5147G>T NP_001394560.1:p.Trp1716Leu missense NM_001407632.1:c.5147G>T NP_001394561.1:p.Trp1716Leu missense NM_001407633.1:c.5147G>T NP_001394562.1:p.Trp1716Leu missense NM_001407634.1:c.5147G>T NP_001394563.1:p.Trp1716Leu missense NM_001407635.1:c.5147G>T NP_001394564.1:p.Trp1716Leu missense NM_001407636.1:c.5147G>T NP_001394565.1:p.Trp1716Leu missense NM_001407637.1:c.5147G>T NP_001394566.1:p.Trp1716Leu missense NM_001407638.1:c.5147G>T NP_001394567.1:p.Trp1716Leu missense NM_001407639.1:c.5147G>T NP_001394568.1:p.Trp1716Leu missense NM_001407640.1:c.5147G>T NP_001394569.1:p.Trp1716Leu missense NM_001407641.1:c.5147G>T NP_001394570.1:p.Trp1716Leu missense NM_001407642.1:c.5147G>T NP_001394571.1:p.Trp1716Leu missense NM_001407644.1:c.5144G>T NP_001394573.1:p.Trp1715Leu missense NM_001407645.1:c.5144G>T NP_001394574.1:p.Trp1715Leu missense NM_001407646.1:c.5141G>T NP_001394575.1:p.Trp1714Leu missense NM_001407647.1:c.5138G>T NP_001394576.1:p.Trp1713Leu missense NM_001407648.1:c.5096G>T NP_001394577.1:p.Trp1699Leu missense NM_001407649.1:c.5093G>T NP_001394578.1:p.Trp1698Leu missense NM_001407652.1:c.5075G>T NP_001394581.1:p.Gly1692Val missense NM_001407653.1:c.5075G>T NP_001394582.1:p.Trp1692Leu missense NM_001407654.1:c.5075G>T NP_001394583.1:p.Trp1692Leu missense NM_001407655.1:c.5075G>T NP_001394584.1:p.Trp1692Leu missense NM_001407656.1:c.5072G>T NP_001394585.1:p.Trp1691Leu missense NM_001407657.1:c.5072G>T NP_001394586.1:p.Trp1691Leu missense NM_001407658.1:c.5072G>T NP_001394587.1:p.Trp1691Leu missense NM_001407659.1:c.5069G>T NP_001394588.1:p.Trp1690Leu missense NM_001407660.1:c.5069G>T NP_001394589.1:p.Trp1690Leu missense NM_001407661.1:c.5069G>T NP_001394590.1:p.Trp1690Leu missense NM_001407662.1:c.5069G>T NP_001394591.1:p.Trp1690Leu missense NM_001407663.1:c.5069G>T NP_001394592.1:p.Trp1690Leu missense NM_001407664.1:c.5030G>T NP_001394593.1:p.Trp1677Leu missense NM_001407665.1:c.5030G>T NP_001394594.1:p.Trp1677Leu missense NM_001407666.1:c.5030G>T NP_001394595.1:p.Trp1677Leu missense NM_001407667.1:c.5030G>T NP_001394596.1:p.Trp1677Leu missense NM_001407668.1:c.5030G>T NP_001394597.1:p.Trp1677Leu missense NM_001407669.1:c.5030G>T NP_001394598.1:p.Trp1677Leu missense NM_001407670.1:c.5027G>T NP_001394599.1:p.Trp1676Leu missense NM_001407671.1:c.5027G>T NP_001394600.1:p.Trp1676Leu missense NM_001407672.1:c.5027G>T NP_001394601.1:p.Trp1676Leu missense NM_001407673.1:c.5027G>T NP_001394602.1:p.Trp1676Leu missense NM_001407674.1:c.5027G>T NP_001394603.1:p.Trp1676Leu missense NM_001407675.1:c.5027G>T NP_001394604.1:p.Trp1676Leu missense NM_001407676.1:c.5027G>T NP_001394605.1:p.Trp1676Leu missense NM_001407677.1:c.5027G>T NP_001394606.1:p.Trp1676Leu missense NM_001407678.1:c.5027G>T NP_001394607.1:p.Trp1676Leu missense NM_001407679.1:c.5027G>T NP_001394608.1:p.Trp1676Leu missense NM_001407680.1:c.5027G>T NP_001394609.1:p.Trp1676Leu missense NM_001407681.1:c.5024G>T NP_001394610.1:p.Trp1675Leu missense NM_001407682.1:c.5024G>T NP_001394611.1:p.Trp1675Leu missense NM_001407683.1:c.5024G>T NP_001394612.1:p.Trp1675Leu missense NM_001407684.1:c.5153G>T NP_001394613.1:p.Trp1718Leu missense NM_001407685.1:c.5024G>T NP_001394614.1:p.Trp1675Leu missense NM_001407686.1:c.5024G>T NP_001394615.1:p.Trp1675Leu missense NM_001407687.1:c.5024G>T NP_001394616.1:p.Trp1675Leu missense NM_001407688.1:c.5024G>T NP_001394617.1:p.Trp1675Leu missense NM_001407689.1:c.5024G>T NP_001394618.1:p.Trp1675Leu missense NM_001407690.1:c.5021G>T NP_001394619.1:p.Trp1674Leu missense NM_001407691.1:c.5021G>T NP_001394620.1:p.Trp1674Leu missense NM_001407692.1:c.5012G>T NP_001394621.1:p.Trp1671Leu missense NM_001407694.1:c.5012G>T NP_001394623.1:p.Trp1671Leu missense NM_001407695.1:c.5012G>T NP_001394624.1:p.Trp1671Leu missense NM_001407696.1:c.5012G>T NP_001394625.1:p.Trp1671Leu missense NM_001407697.1:c.5012G>T NP_001394626.1:p.Trp1671Leu missense NM_001407698.1:c.5012G>T NP_001394627.1:p.Trp1671Leu missense NM_001407724.1:c.5012G>T NP_001394653.1:p.Trp1671Leu missense NM_001407725.1:c.5012G>T NP_001394654.1:p.Trp1671Leu missense NM_001407726.1:c.5012G>T NP_001394655.1:p.Trp1671Leu missense NM_001407727.1:c.5012G>T NP_001394656.1:p.Trp1671Leu missense NM_001407728.1:c.5012G>T NP_001394657.1:p.Trp1671Leu missense NM_001407729.1:c.5012G>T NP_001394658.1:p.Trp1671Leu missense NM_001407730.1:c.5012G>T NP_001394659.1:p.Trp1671Leu missense NM_001407731.1:c.5012G>T NP_001394660.1:p.Trp1671Leu missense NM_001407732.1:c.5009G>T NP_001394661.1:p.Trp1670Leu missense NM_001407733.1:c.5009G>T NP_001394662.1:p.Trp1670Leu missense NM_001407734.1:c.5009G>T NP_001394663.1:p.Trp1670Leu missense NM_001407735.1:c.5009G>T NP_001394664.1:p.Trp1670Leu missense NM_001407736.1:c.5009G>T NP_001394665.1:p.Trp1670Leu missense NM_001407737.1:c.5009G>T NP_001394666.1:p.Trp1670Leu missense NM_001407738.1:c.5009G>T NP_001394667.1:p.Trp1670Leu missense NM_001407739.1:c.5009G>T NP_001394668.1:p.Trp1670Leu missense NM_001407740.1:c.5009G>T NP_001394669.1:p.Trp1670Leu missense NM_001407741.1:c.5009G>T NP_001394670.1:p.Trp1670Leu missense NM_001407742.1:c.5009G>T NP_001394671.1:p.Trp1670Leu missense NM_001407743.1:c.5009G>T NP_001394672.1:p.Trp1670Leu missense NM_001407744.1:c.5009G>T NP_001394673.1:p.Trp1670Leu missense NM_001407745.1:c.5009G>T NP_001394674.1:p.Trp1670Leu missense NM_001407746.1:c.5009G>T NP_001394675.1:p.Trp1670Leu missense NM_001407747.1:c.5009G>T NP_001394676.1:p.Trp1670Leu missense NM_001407748.1:c.5009G>T NP_001394677.1:p.Trp1670Leu missense NM_001407749.1:c.5009G>T NP_001394678.1:p.Trp1670Leu missense NM_001407750.1:c.5009G>T NP_001394679.1:p.Trp1670Leu missense NM_001407751.1:c.5009G>T NP_001394680.1:p.Trp1670Leu missense NM_001407752.1:c.5009G>T NP_001394681.1:p.Trp1670Leu missense NM_001407838.1:c.5006G>T NP_001394767.1:p.Trp1669Leu missense NM_001407839.1:c.5006G>T NP_001394768.1:p.Trp1669Leu missense NM_001407841.1:c.5006G>T NP_001394770.1:p.Trp1669Leu missense NM_001407842.1:c.5006G>T NP_001394771.1:p.Trp1669Leu missense NM_001407843.1:c.5006G>T NP_001394772.1:p.Trp1669Leu missense NM_001407844.1:c.5006G>T NP_001394773.1:p.Trp1669Leu missense NM_001407845.1:c.5006G>T NP_001394774.1:p.Trp1669Leu missense NM_001407846.1:c.5006G>T NP_001394775.1:p.Trp1669Leu missense NM_001407847.1:c.5006G>T NP_001394776.1:p.Trp1669Leu missense NM_001407848.1:c.5006G>T NP_001394777.1:p.Trp1669Leu missense NM_001407849.1:c.5006G>T NP_001394778.1:p.Trp1669Leu missense NM_001407850.1:c.5006G>T NP_001394779.1:p.Trp1669Leu missense NM_001407851.1:c.5006G>T NP_001394780.1:p.Trp1669Leu missense NM_001407852.1:c.5006G>T NP_001394781.1:p.Trp1669Leu missense NM_001407853.1:c.5006G>T NP_001394782.1:p.Trp1669Leu missense NM_001407854.1:c.5153G>T NP_001394783.1:p.Trp1718Leu missense NM_001407858.1:c.5150G>T NP_001394787.1:p.Trp1717Leu missense NM_001407859.1:c.5150G>T NP_001394788.1:p.Trp1717Leu missense NM_001407860.1:c.5150G>T NP_001394789.1:p.Trp1717Leu missense NM_001407861.1:c.5147G>T NP_001394790.1:p.Trp1716Leu missense NM_001407862.1:c.4952G>T NP_001394791.1:p.Trp1651Leu missense NM_001407863.1:c.4949G>T NP_001394792.1:p.Gly1650Val missense NM_001407874.1:c.4946G>T NP_001394803.1:p.Trp1649Leu missense NM_001407875.1:c.4946G>T NP_001394804.1:p.Trp1649Leu missense NM_001407879.1:c.4943G>T NP_001394808.1:p.Trp1648Leu missense NM_001407881.1:c.4943G>T NP_001394810.1:p.Trp1648Leu missense NM_001407882.1:c.4943G>T NP_001394811.1:p.Trp1648Leu missense NM_001407884.1:c.4943G>T NP_001394813.1:p.Trp1648Leu missense NM_001407885.1:c.4943G>T NP_001394814.1:p.Trp1648Leu missense NM_001407886.1:c.4943G>T NP_001394815.1:p.Trp1648Leu missense NM_001407887.1:c.4943G>T NP_001394816.1:p.Trp1648Leu missense NM_001407889.1:c.4943G>T NP_001394818.1:p.Trp1648Leu missense NM_001407894.1:c.4940G>T NP_001394823.1:p.Trp1647Leu missense NM_001407895.1:c.4940G>T NP_001394824.1:p.Trp1647Leu missense NM_001407896.1:c.4940G>T NP_001394825.1:p.Trp1647Leu missense NM_001407897.1:c.4940G>T NP_001394826.1:p.Trp1647Leu missense NM_001407898.1:c.4940G>T NP_001394827.1:p.Trp1647Leu missense NM_001407899.1:c.4940G>T NP_001394828.1:p.Trp1647Leu missense NM_001407900.1:c.4940G>T NP_001394829.1:p.Trp1647Leu missense NM_001407902.1:c.4940G>T NP_001394831.1:p.Trp1647Leu missense NM_001407904.1:c.4940G>T NP_001394833.1:p.Trp1647Leu missense NM_001407906.1:c.4940G>T NP_001394835.1:p.Trp1647Leu missense NM_001407907.1:c.4940G>T NP_001394836.1:p.Trp1647Leu missense NM_001407908.1:c.4940G>T NP_001394837.1:p.Trp1647Leu missense NM_001407909.1:c.4940G>T NP_001394838.1:p.Trp1647Leu missense NM_001407910.1:c.4940G>T NP_001394839.1:p.Trp1647Leu missense NM_001407915.1:c.4937G>T NP_001394844.1:p.Trp1646Leu missense NM_001407916.1:c.4937G>T NP_001394845.1:p.Trp1646Leu missense NM_001407917.1:c.4937G>T NP_001394846.1:p.Trp1646Leu missense NM_001407918.1:c.4937G>T NP_001394847.1:p.Trp1646Leu missense NM_001407919.1:c.5030G>T NP_001394848.1:p.Trp1677Leu missense NM_001407920.1:c.4889G>T NP_001394849.1:p.Trp1630Leu missense NM_001407921.1:c.4889G>T NP_001394850.1:p.Trp1630Leu missense NM_001407922.1:c.4889G>T NP_001394851.1:p.Trp1630Leu missense NM_001407923.1:c.4889G>T NP_001394852.1:p.Trp1630Leu missense NM_001407924.1:c.4889G>T NP_001394853.1:p.Trp1630Leu missense NM_001407925.1:c.4889G>T NP_001394854.1:p.Trp1630Leu missense NM_001407926.1:c.4889G>T NP_001394855.1:p.Trp1630Leu missense NM_001407927.1:c.4886G>T NP_001394856.1:p.Trp1629Leu missense NM_001407928.1:c.4886G>T NP_001394857.1:p.Trp1629Leu missense NM_001407929.1:c.4886G>T NP_001394858.1:p.Trp1629Leu missense NM_001407930.1:c.4886G>T NP_001394859.1:p.Trp1629Leu missense NM_001407931.1:c.4886G>T NP_001394860.1:p.Trp1629Leu missense NM_001407932.1:c.4886G>T NP_001394861.1:p.Trp1629Leu missense NM_001407933.1:c.4886G>T NP_001394862.1:p.Trp1629Leu missense NM_001407934.1:c.4883G>T NP_001394863.1:p.Trp1628Leu missense NM_001407935.1:c.4883G>T NP_001394864.1:p.Trp1628Leu missense NM_001407936.1:c.4883G>T NP_001394865.1:p.Trp1628Leu missense NM_001407937.1:c.5030G>T NP_001394866.1:p.Trp1677Leu missense NM_001407938.1:c.5030G>T NP_001394867.1:p.Trp1677Leu missense NM_001407939.1:c.5027G>T NP_001394868.1:p.Trp1676Leu missense NM_001407940.1:c.5027G>T NP_001394869.1:p.Trp1676Leu missense NM_001407941.1:c.5024G>T NP_001394870.1:p.Trp1675Leu missense NM_001407942.1:c.5012G>T NP_001394871.1:p.Trp1671Leu missense NM_001407943.1:c.5009G>T NP_001394872.1:p.Trp1670Leu missense NM_001407944.1:c.5009G>T NP_001394873.1:p.Trp1670Leu missense NM_001407945.1:c.5009G>T NP_001394874.1:p.Trp1670Leu missense NM_001407946.1:c.4820G>T NP_001394875.1:p.Trp1607Leu missense NM_001407947.1:c.4820G>T NP_001394876.1:p.Trp1607Leu missense NM_001407948.1:c.4820G>T NP_001394877.1:p.Trp1607Leu missense NM_001407949.1:c.4820G>T NP_001394878.1:p.Trp1607Leu missense NM_001407950.1:c.4817G>T NP_001394879.1:p.Trp1606Leu missense NM_001407951.1:c.4817G>T NP_001394880.1:p.Trp1606Leu missense NM_001407952.1:c.4817G>T NP_001394881.1:p.Trp1606Leu missense NM_001407953.1:c.4817G>T NP_001394882.1:p.Trp1606Leu missense NM_001407954.1:c.4817G>T NP_001394883.1:p.Trp1606Leu missense NM_001407955.1:c.4817G>T NP_001394884.1:p.Trp1606Leu missense NM_001407956.1:c.4814G>T NP_001394885.1:p.Trp1605Leu missense NM_001407957.1:c.4814G>T NP_001394886.1:p.Trp1605Leu missense NM_001407958.1:c.4814G>T NP_001394887.1:p.Trp1605Leu missense NM_001407959.1:c.4772G>T NP_001394888.1:p.Trp1591Leu missense NM_001407960.1:c.4769G>T NP_001394889.1:p.Trp1590Leu missense NM_001407962.1:c.4769G>T NP_001394891.1:p.Trp1590Leu missense NM_001407963.1:c.4766G>T NP_001394892.1:p.Trp1589Leu missense NM_001407964.1:c.4691G>T NP_001394893.1:p.Trp1564Leu missense NM_001407965.1:c.4646G>T NP_001394894.1:p.Trp1549Leu missense NM_001407966.1:c.4265G>T NP_001394895.1:p.Trp1422Leu missense NM_001407967.1:c.4262G>T NP_001394896.1:p.Trp1421Leu missense NM_001407968.1:c.2549G>T NP_001394897.1:p.Trp850Leu missense NM_001407969.1:c.2546G>T NP_001394898.1:p.Trp849Leu missense NM_001407970.1:c.1910G>T NP_001394899.1:p.Trp637Leu missense NM_001407971.1:c.1910G>T NP_001394900.1:p.Trp637Leu missense NM_001407972.1:c.1907G>T NP_001394901.1:p.Trp636Leu missense NM_001407973.1:c.1844G>T NP_001394902.1:p.Trp615Leu missense NM_001407974.1:c.1844G>T NP_001394903.1:p.Trp615Leu missense NM_001407975.1:c.1844G>T NP_001394904.1:p.Trp615Leu missense NM_001407976.1:c.1844G>T NP_001394905.1:p.Trp615Leu missense NM_001407977.1:c.1844G>T NP_001394906.1:p.Trp615Leu missense NM_001407978.1:c.1844G>T NP_001394907.1:p.Trp615Leu missense NM_001407979.1:c.1841G>T NP_001394908.1:p.Trp614Leu missense NM_001407980.1:c.1841G>T NP_001394909.1:p.Trp614Leu missense NM_001407981.1:c.1841G>T NP_001394910.1:p.Trp614Leu missense NM_001407982.1:c.1841G>T NP_001394911.1:p.Trp614Leu missense NM_001407983.1:c.1841G>T NP_001394912.1:p.Trp614Leu missense NM_001407984.1:c.1841G>T NP_001394913.1:p.Trp614Leu missense NM_001407985.1:c.1841G>T NP_001394914.1:p.Trp614Leu missense NM_001407986.1:c.1841G>T NP_001394915.1:p.Trp614Leu missense NM_001407990.1:c.1841G>T NP_001394919.1:p.Trp614Leu missense NM_001407991.1:c.1841G>T NP_001394920.1:p.Trp614Leu missense NM_001407992.1:c.1841G>T NP_001394921.1:p.Trp614Leu missense NM_001407993.1:c.1841G>T NP_001394922.1:p.Trp614Leu missense NM_001408392.1:c.1838G>T NP_001395321.1:p.Trp613Leu missense NM_001408396.1:c.1838G>T NP_001395325.1:p.Trp613Leu missense NM_001408397.1:c.1838G>T NP_001395326.1:p.Trp613Leu missense NM_001408398.1:c.1838G>T NP_001395327.1:p.Trp613Leu missense NM_001408399.1:c.1838G>T NP_001395328.1:p.Trp613Leu missense NM_001408400.1:c.1838G>T NP_001395329.1:p.Trp613Leu missense NM_001408401.1:c.1838G>T NP_001395330.1:p.Trp613Leu missense NM_001408402.1:c.1838G>T NP_001395331.1:p.Trp613Leu missense NM_001408403.1:c.1838G>T NP_001395332.1:p.Trp613Leu missense NM_001408404.1:c.1838G>T NP_001395333.1:p.Trp613Leu missense NM_001408406.1:c.1835G>T NP_001395335.1:p.Trp612Leu missense NM_001408407.1:c.1835G>T NP_001395336.1:p.Trp612Leu missense NM_001408408.1:c.1835G>T NP_001395337.1:p.Trp612Leu missense NM_001408409.1:c.1832G>T NP_001395338.1:p.Trp611Leu missense NM_001408410.1:c.1769G>T NP_001395339.1:p.Trp590Leu missense NM_001408411.1:c.1766G>T NP_001395340.1:p.Trp589Leu missense NM_001408412.1:c.1763G>T NP_001395341.1:p.Trp588Leu missense NM_001408413.1:c.1763G>T NP_001395342.1:p.Trp588Leu missense NM_001408414.1:c.1763G>T NP_001395343.1:p.Trp588Leu missense NM_001408415.1:c.1763G>T NP_001395344.1:p.Trp588Leu missense NM_001408416.1:c.1763G>T NP_001395345.1:p.Trp588Leu missense NM_001408418.1:c.1727G>T NP_001395347.1:p.Trp576Leu missense NM_001408419.1:c.1727G>T NP_001395348.1:p.Trp576Leu missense NM_001408420.1:c.1727G>T NP_001395349.1:p.Trp576Leu missense NM_001408421.1:c.1724G>T NP_001395350.1:p.Trp575Leu missense NM_001408422.1:c.1724G>T NP_001395351.1:p.Trp575Leu missense NM_001408423.1:c.1724G>T NP_001395352.1:p.Trp575Leu missense NM_001408424.1:c.1724G>T NP_001395353.1:p.Trp575Leu missense NM_001408425.1:c.1721G>T NP_001395354.1:p.Trp574Leu missense NM_001408426.1:c.1721G>T NP_001395355.1:p.Trp574Leu missense NM_001408427.1:c.1721G>T NP_001395356.1:p.Trp574Leu missense NM_001408428.1:c.1721G>T NP_001395357.1:p.Trp574Leu missense NM_001408429.1:c.1721G>T NP_001395358.1:p.Trp574Leu missense NM_001408430.1:c.1721G>T NP_001395359.1:p.Trp574Leu missense NM_001408431.1:c.1721G>T NP_001395360.1:p.Trp574Leu missense NM_001408432.1:c.1718G>T NP_001395361.1:p.Trp573Leu missense NM_001408433.1:c.1718G>T NP_001395362.1:p.Trp573Leu missense NM_001408434.1:c.1718G>T NP_001395363.1:p.Trp573Leu missense NM_001408435.1:c.1718G>T NP_001395364.1:p.Trp573Leu missense NM_001408436.1:c.1718G>T NP_001395365.1:p.Trp573Leu missense NM_001408437.1:c.1718G>T NP_001395366.1:p.Trp573Leu missense NM_001408438.1:c.1718G>T NP_001395367.1:p.Trp573Leu missense NM_001408439.1:c.1718G>T NP_001395368.1:p.Trp573Leu missense NM_001408440.1:c.1718G>T NP_001395369.1:p.Trp573Leu missense NM_001408441.1:c.1718G>T NP_001395370.1:p.Trp573Leu missense NM_001408442.1:c.1718G>T NP_001395371.1:p.Trp573Leu missense NM_001408443.1:c.1718G>T NP_001395372.1:p.Trp573Leu missense NM_001408444.1:c.1718G>T NP_001395373.1:p.Trp573Leu missense NM_001408445.1:c.1715G>T NP_001395374.1:p.Trp572Leu missense NM_001408446.1:c.1715G>T NP_001395375.1:p.Trp572Leu missense NM_001408447.1:c.1715G>T NP_001395376.1:p.Trp572Leu missense NM_001408448.1:c.1715G>T NP_001395377.1:p.Trp572Leu missense NM_001408450.1:c.1715G>T NP_001395379.1:p.Trp572Leu missense NM_001408451.1:c.1709G>T NP_001395380.1:p.Trp570Leu missense NM_001408452.1:c.1703G>T NP_001395381.1:p.Trp568Leu missense NM_001408453.1:c.1703G>T NP_001395382.1:p.Trp568Leu missense NM_001408454.1:c.1703G>T NP_001395383.1:p.Trp568Leu missense NM_001408455.1:c.1703G>T NP_001395384.1:p.Trp568Leu missense NM_001408456.1:c.1703G>T NP_001395385.1:p.Trp568Leu missense NM_001408457.1:c.1703G>T NP_001395386.1:p.Trp568Leu missense NM_001408458.1:c.1700G>T NP_001395387.1:p.Trp567Leu missense NM_001408459.1:c.1700G>T NP_001395388.1:p.Trp567Leu missense NM_001408460.1:c.1700G>T NP_001395389.1:p.Trp567Leu missense NM_001408461.1:c.1700G>T NP_001395390.1:p.Trp567Leu missense NM_001408462.1:c.1700G>T NP_001395391.1:p.Trp567Leu missense NM_001408463.1:c.1700G>T NP_001395392.1:p.Trp567Leu missense NM_001408464.1:c.1700G>T NP_001395393.1:p.Trp567Leu missense NM_001408465.1:c.1700G>T NP_001395394.1:p.Trp567Leu missense NM_001408466.1:c.1700G>T NP_001395395.1:p.Trp567Leu missense NM_001408467.1:c.1700G>T NP_001395396.1:p.Trp567Leu missense NM_001408468.1:c.1697G>T NP_001395397.1:p.Trp566Leu missense NM_001408469.1:c.1697G>T NP_001395398.1:p.Trp566Leu missense NM_001408470.1:c.1697G>T NP_001395399.1:p.Trp566Leu missense NM_001408472.1:c.1841G>T NP_001395401.1:p.Trp614Leu missense NM_001408473.1:c.1838G>T NP_001395402.1:p.Trp613Leu missense NM_001408474.1:c.1643G>T NP_001395403.1:p.Trp548Leu missense NM_001408475.1:c.1640G>T NP_001395404.1:p.Trp547Leu missense NM_001408476.1:c.1640G>T NP_001395405.1:p.Trp547Leu missense NM_001408478.1:c.1634G>T NP_001395407.1:p.Trp545Leu missense NM_001408479.1:c.1634G>T NP_001395408.1:p.Trp545Leu missense NM_001408480.1:c.1634G>T NP_001395409.1:p.Trp545Leu missense NM_001408481.1:c.1631G>T NP_001395410.1:p.Trp544Leu missense NM_001408482.1:c.1631G>T NP_001395411.1:p.Trp544Leu missense NM_001408483.1:c.1631G>T NP_001395412.1:p.Trp544Leu missense NM_001408484.1:c.1631G>T NP_001395413.1:p.Trp544Leu missense NM_001408485.1:c.1631G>T NP_001395414.1:p.Trp544Leu missense NM_001408489.1:c.1631G>T NP_001395418.1:p.Trp544Leu missense NM_001408490.1:c.1631G>T NP_001395419.1:p.Trp544Leu missense NM_001408491.1:c.1631G>T NP_001395420.1:p.Trp544Leu missense NM_001408492.1:c.1628G>T NP_001395421.1:p.Trp543Leu missense NM_001408493.1:c.1628G>T NP_001395422.1:p.Trp543Leu missense NM_001408494.1:c.1604G>T NP_001395423.1:p.Trp535Leu missense NM_001408495.1:c.1598G>T NP_001395424.1:p.Trp533Leu missense NM_001408496.1:c.1580G>T NP_001395425.1:p.Trp527Leu missense NM_001408497.1:c.1580G>T NP_001395426.1:p.Trp527Leu missense NM_001408498.1:c.1580G>T NP_001395427.1:p.Trp527Leu missense NM_001408499.1:c.1580G>T NP_001395428.1:p.Trp527Leu missense NM_001408500.1:c.1580G>T NP_001395429.1:p.Trp527Leu missense NM_001408501.1:c.1580G>T NP_001395430.1:p.Trp527Leu missense NM_001408502.1:c.1577G>T NP_001395431.1:p.Trp526Leu missense NM_001408503.1:c.1577G>T NP_001395432.1:p.Trp526Leu missense NM_001408504.1:c.1577G>T NP_001395433.1:p.Trp526Leu missense NM_001408505.1:c.1574G>T NP_001395434.1:p.Trp525Leu missense NM_001408506.1:c.1517G>T NP_001395435.1:p.Trp506Leu missense NM_001408507.1:c.1514G>T NP_001395436.1:p.Trp505Leu missense NM_001408508.1:c.1505G>T NP_001395437.1:p.Trp502Leu missense NM_001408509.1:c.1502G>T NP_001395438.1:p.Trp501Leu missense NM_001408510.1:c.1463G>T NP_001395439.1:p.Trp488Leu missense NM_001408511.1:c.1460G>T NP_001395440.1:p.Trp487Leu missense NM_001408512.1:c.1340G>T NP_001395441.1:p.Trp447Leu missense NM_001408513.1:c.1313G>T NP_001395442.1:p.Trp438Leu missense NM_001408514.1:c.917G>T NP_001395443.1:p.Trp306Leu missense NM_007297.4:c.5012G>T NP_009228.2:p.Trp1671Leu missense NM_007298.4:c.1841G>T NP_009229.2:p.Trp614Leu missense NM_007299.4:c.1841G>T NP_009230.2:p.Trp614Leu missense NM_007300.4:c.5216G>T NP_009231.2:p.Trp1739Leu missense NM_007304.2:c.1841G>T NP_009235.2:p.Trp614Leu missense NR_027676.2:n.5330G>T non-coding transcript variant NC_000017.11:g.43063373C>A NC_000017.10:g.41215390C>A NG_005905.2:g.154611G>T LRG_292:g.154611G>T LRG_292t1:c.5153G>T LRG_292p1:p.Trp1718Leu - Protein change
- W1718L, W1671L, W1739L, W614L, W1590L, W1605L, W1607L, W1647L, W1651L, W1670L, W1674L, W1690L, W1691L, W306L, W447L, W487L, W525L, W533L, W547L, W572L, W574L, W612L, W613L, W849L, G1692V, W1628L, W1629L, W1630L, W1648L, W1649L, W1675L, W1699L, W1716L, W1717L, W488L, W505L, W506L, W527L, W544L, W568L, W576L, W588L, W590L, W615L, W637L, W850L, G1650V, W1421L, W1589L, W1606L, W1646L, W1698L, W1714L, W1715L, W1738L, W1740L, W438L, W502L, W526L, W543L, W566L, W573L, W611L, W1422L, W1549L, W1564L, W1591L, W1669L, W1676L, W1677L, W1692L, W1713L, W501L, W535L, W545L, W548L, W567L, W570L, W575L, W589L, W636L
- Other names
- -
- Canonical SPDI
- NC_000017.11:43063372:C:A
-
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.5153G>T, a MISSENSE variant, produced a function score of -1.37, 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. |
|---|---|---|---|---|
| Uncertain significance (1) |
no assertion criteria provided
|
Mar 1, 2019 | RCV000845277.3 | |
| not provided (1) |
no classification provided
|
- | RCV001072409.3 |
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. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(Mar 01, 2019)
|
no assertion criteria provided
Method: research
|
Hereditary breast and ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Hereditary Cancer Genetics group, Vall d'Hebron Institute of Oncology
Accession: SCV000916356.1
First in ClinVar: Sep 01, 2019 Last updated: Sep 01, 2019 |
Sex: female
|
|
|
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: SCV001237784.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-1.37115523247543
|
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: SCV001237784.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5153G>T, a MISSENSE variant, produced a function score of -1.37, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5153G>T, a MISSENSE variant, produced a function score of -1.37, 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)
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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 rs41293461 ...
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Record 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.