ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5147_5148insC (p.Trp1718fs)
Germline
Classification
Help
no assertion criteria provided. Learn more about how ClinVar calculates review status.
Pathogenic
This classification is based on the single submission received
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
1
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5147_5148insC (p.Trp1718fs)
Variation ID: 431273 Accession: VCV000431273.2
- Type and length
-
Insertion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43063878-43063879 (GRCh38) [ NCBI UCSC ] 17: 41215895-41215896 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Aug 7, 2017 Aug 7, 2017 Jan 31, 2014 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5147_5148insC MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Trp1718fs frameshift NM_001407571.1:c.4934_4935insC NP_001394500.1:p.Trp1647Leufs frameshift NM_001407581.1:c.5213_5214insC NP_001394510.1:p.Trp1740Leufs frameshift NM_001407582.1:c.5213_5214insC NP_001394511.1:p.Trp1740Leufs frameshift NM_001407583.1:c.5210_5211insC NP_001394512.1:p.Trp1739Leufs frameshift NM_001407585.1:c.5210_5211insC NP_001394514.1:p.Trp1739Leufs frameshift NM_001407587.1:c.5210_5211insC NP_001394516.1:p.Trp1739Leufs frameshift NM_001407590.1:c.5207_5208insC NP_001394519.1:p.Trp1738Leufs frameshift NM_001407591.1:c.5207_5208insC NP_001394520.1:p.Trp1738Leufs frameshift NM_001407593.1:c.5147_5148insC NP_001394522.1:p.Trp1718Leufs frameshift NM_001407594.1:c.5147_5148insC NP_001394523.1:p.Trp1718Leufs frameshift NM_001407596.1:c.5147_5148insC NP_001394525.1:p.Trp1718Leufs frameshift NM_001407597.1:c.5147_5148insC NP_001394526.1:p.Trp1718Leufs frameshift NM_001407598.1:c.5147_5148insC NP_001394527.1:p.Trp1718Leufs frameshift NM_001407602.1:c.5147_5148insC NP_001394531.1:p.Trp1718Leufs frameshift NM_001407603.1:c.5147_5148insC NP_001394532.1:p.Trp1718Leufs frameshift NM_001407605.1:c.5147_5148insC NP_001394534.1:p.Trp1718Leufs frameshift NM_001407610.1:c.5144_5145insC NP_001394539.1:p.Trp1717Leufs frameshift NM_001407611.1:c.5144_5145insC NP_001394540.1:p.Trp1717Leufs frameshift NM_001407612.1:c.5144_5145insC NP_001394541.1:p.Trp1717Leufs frameshift NM_001407613.1:c.5144_5145insC NP_001394542.1:p.Trp1717Leufs frameshift NM_001407614.1:c.5144_5145insC NP_001394543.1:p.Trp1717Leufs frameshift NM_001407615.1:c.5144_5145insC NP_001394544.1:p.Trp1717Leufs frameshift NM_001407616.1:c.5144_5145insC NP_001394545.1:p.Trp1717Leufs frameshift NM_001407617.1:c.5144_5145insC NP_001394546.1:p.Trp1717Leufs frameshift NM_001407618.1:c.5144_5145insC NP_001394547.1:p.Trp1717Leufs frameshift NM_001407619.1:c.5144_5145insC NP_001394548.1:p.Trp1717Leufs frameshift NM_001407620.1:c.5144_5145insC NP_001394549.1:p.Trp1717Leufs frameshift NM_001407621.1:c.5144_5145insC NP_001394550.1:p.Trp1717Leufs frameshift NM_001407622.1:c.5144_5145insC NP_001394551.1:p.Trp1717Leufs frameshift NM_001407623.1:c.5144_5145insC NP_001394552.1:p.Trp1717Leufs frameshift NM_001407624.1:c.5144_5145insC NP_001394553.1:p.Trp1717Leufs frameshift NM_001407625.1:c.5144_5145insC NP_001394554.1:p.Trp1717Leufs frameshift NM_001407626.1:c.5144_5145insC NP_001394555.1:p.Trp1717Leufs frameshift NM_001407627.1:c.5141_5142insC NP_001394556.1:p.Trp1716Leufs frameshift NM_001407628.1:c.5141_5142insC NP_001394557.1:p.Trp1716Leufs frameshift NM_001407629.1:c.5141_5142insC NP_001394558.1:p.Trp1716Leufs frameshift NM_001407630.1:c.5141_5142insC NP_001394559.1:p.Trp1716Leufs frameshift NM_001407631.1:c.5141_5142insC NP_001394560.1:p.Trp1716Leufs frameshift NM_001407632.1:c.5141_5142insC NP_001394561.1:p.Trp1716Leufs frameshift NM_001407633.1:c.5141_5142insC NP_001394562.1:p.Trp1716Leufs frameshift NM_001407634.1:c.5141_5142insC NP_001394563.1:p.Trp1716Leufs frameshift NM_001407635.1:c.5141_5142insC NP_001394564.1:p.Trp1716Leufs frameshift NM_001407636.1:c.5141_5142insC NP_001394565.1:p.Trp1716Leufs frameshift NM_001407637.1:c.5141_5142insC NP_001394566.1:p.Trp1716Leufs frameshift NM_001407638.1:c.5141_5142insC NP_001394567.1:p.Trp1716Leufs frameshift NM_001407639.1:c.5141_5142insC NP_001394568.1:p.Trp1716Leufs frameshift NM_001407640.1:c.5141_5142insC NP_001394569.1:p.Trp1716Leufs frameshift NM_001407641.1:c.5141_5142insC NP_001394570.1:p.Trp1716Leufs frameshift NM_001407642.1:c.5141_5142insC NP_001394571.1:p.Trp1716Leufs frameshift NM_001407644.1:c.5138_5139insC NP_001394573.1:p.Trp1715Leufs frameshift NM_001407645.1:c.5138_5139insC NP_001394574.1:p.Trp1715Leufs frameshift NM_001407646.1:c.5135_5136insC NP_001394575.1:p.Trp1714Leufs frameshift NM_001407647.1:c.5132_5133insC NP_001394576.1:p.Trp1713Leufs frameshift NM_001407648.1:c.5090_5091insC NP_001394577.1:p.Trp1699Leufs frameshift NM_001407649.1:c.5087_5088insC NP_001394578.1:p.Trp1698Leufs frameshift NM_001407653.1:c.5069_5070insC NP_001394582.1:p.Trp1692Leufs frameshift NM_001407654.1:c.5069_5070insC NP_001394583.1:p.Trp1692Leufs frameshift NM_001407655.1:c.5069_5070insC NP_001394584.1:p.Trp1692Leufs frameshift NM_001407656.1:c.5066_5067insC NP_001394585.1:p.Trp1691Leufs frameshift NM_001407657.1:c.5066_5067insC NP_001394586.1:p.Trp1691Leufs frameshift NM_001407658.1:c.5066_5067insC NP_001394587.1:p.Trp1691Leufs frameshift NM_001407659.1:c.5063_5064insC NP_001394588.1:p.Trp1690Leufs frameshift NM_001407660.1:c.5063_5064insC NP_001394589.1:p.Trp1690Leufs frameshift NM_001407661.1:c.5063_5064insC NP_001394590.1:p.Trp1690Leufs frameshift NM_001407662.1:c.5063_5064insC NP_001394591.1:p.Trp1690Leufs frameshift NM_001407663.1:c.5063_5064insC NP_001394592.1:p.Trp1690Leufs frameshift NM_001407664.1:c.5024_5025insC NP_001394593.1:p.Trp1677Leufs frameshift NM_001407665.1:c.5024_5025insC NP_001394594.1:p.Trp1677Leufs frameshift NM_001407666.1:c.5024_5025insC NP_001394595.1:p.Trp1677Leufs frameshift NM_001407667.1:c.5024_5025insC NP_001394596.1:p.Trp1677Leufs frameshift NM_001407668.1:c.5024_5025insC NP_001394597.1:p.Trp1677Leufs frameshift NM_001407669.1:c.5024_5025insC NP_001394598.1:p.Trp1677Leufs frameshift NM_001407670.1:c.5021_5022insC NP_001394599.1:p.Trp1676Leufs frameshift NM_001407671.1:c.5021_5022insC NP_001394600.1:p.Trp1676Leufs frameshift NM_001407672.1:c.5021_5022insC NP_001394601.1:p.Trp1676Leufs frameshift NM_001407673.1:c.5021_5022insC NP_001394602.1:p.Trp1676Leufs frameshift NM_001407674.1:c.5021_5022insC NP_001394603.1:p.Trp1676Leufs frameshift NM_001407675.1:c.5021_5022insC NP_001394604.1:p.Trp1676Leufs frameshift NM_001407676.1:c.5021_5022insC NP_001394605.1:p.Trp1676Leufs frameshift NM_001407677.1:c.5021_5022insC NP_001394606.1:p.Trp1676Leufs frameshift NM_001407678.1:c.5021_5022insC NP_001394607.1:p.Trp1676Leufs frameshift NM_001407679.1:c.5021_5022insC NP_001394608.1:p.Trp1676Leufs frameshift NM_001407680.1:c.5021_5022insC NP_001394609.1:p.Trp1676Leufs frameshift NM_001407681.1:c.5018_5019insC NP_001394610.1:p.Trp1675Leufs frameshift NM_001407682.1:c.5018_5019insC NP_001394611.1:p.Trp1675Leufs frameshift NM_001407683.1:c.5018_5019insC NP_001394612.1:p.Trp1675Leufs frameshift NM_001407684.1:c.5147_5148insC NP_001394613.1:p.Trp1718Leufs frameshift NM_001407685.1:c.5018_5019insC NP_001394614.1:p.Trp1675Leufs frameshift NM_001407686.1:c.5018_5019insC NP_001394615.1:p.Trp1675Leufs frameshift NM_001407687.1:c.5018_5019insC NP_001394616.1:p.Trp1675Leufs frameshift NM_001407688.1:c.5018_5019insC NP_001394617.1:p.Trp1675Leufs frameshift NM_001407689.1:c.5018_5019insC NP_001394618.1:p.Trp1675Leufs frameshift NM_001407690.1:c.5015_5016insC NP_001394619.1:p.Trp1674Leufs frameshift NM_001407691.1:c.5015_5016insC NP_001394620.1:p.Trp1674Leufs frameshift NM_001407692.1:c.5006_5007insC NP_001394621.1:p.Trp1671Leufs frameshift NM_001407694.1:c.5006_5007insC NP_001394623.1:p.Trp1671Leufs frameshift NM_001407695.1:c.5006_5007insC NP_001394624.1:p.Trp1671Leufs frameshift NM_001407696.1:c.5006_5007insC NP_001394625.1:p.Trp1671Leufs frameshift NM_001407697.1:c.5006_5007insC NP_001394626.1:p.Trp1671Leufs frameshift NM_001407698.1:c.5006_5007insC NP_001394627.1:p.Trp1671Leufs frameshift NM_001407724.1:c.5006_5007insC NP_001394653.1:p.Trp1671Leufs frameshift NM_001407725.1:c.5006_5007insC NP_001394654.1:p.Trp1671Leufs frameshift NM_001407726.1:c.5006_5007insC NP_001394655.1:p.Trp1671Leufs frameshift NM_001407727.1:c.5006_5007insC NP_001394656.1:p.Trp1671Leufs frameshift NM_001407728.1:c.5006_5007insC NP_001394657.1:p.Trp1671Leufs frameshift NM_001407729.1:c.5006_5007insC NP_001394658.1:p.Trp1671Leufs frameshift NM_001407730.1:c.5006_5007insC NP_001394659.1:p.Trp1671Leufs frameshift NM_001407731.1:c.5006_5007insC NP_001394660.1:p.Trp1671Leufs frameshift NM_001407732.1:c.5003_5004insC NP_001394661.1:p.Trp1670Leufs frameshift NM_001407733.1:c.5003_5004insC NP_001394662.1:p.Trp1670Leufs frameshift NM_001407734.1:c.5003_5004insC NP_001394663.1:p.Trp1670Leufs frameshift NM_001407735.1:c.5003_5004insC NP_001394664.1:p.Trp1670Leufs frameshift NM_001407736.1:c.5003_5004insC NP_001394665.1:p.Trp1670Leufs frameshift NM_001407737.1:c.5003_5004insC NP_001394666.1:p.Trp1670Leufs frameshift NM_001407738.1:c.5003_5004insC NP_001394667.1:p.Trp1670Leufs frameshift NM_001407739.1:c.5003_5004insC NP_001394668.1:p.Trp1670Leufs frameshift NM_001407740.1:c.5003_5004insC NP_001394669.1:p.Trp1670Leufs frameshift NM_001407741.1:c.5003_5004insC NP_001394670.1:p.Trp1670Leufs frameshift NM_001407742.1:c.5003_5004insC NP_001394671.1:p.Trp1670Leufs frameshift NM_001407743.1:c.5003_5004insC NP_001394672.1:p.Trp1670Leufs frameshift NM_001407744.1:c.5003_5004insC NP_001394673.1:p.Trp1670Leufs frameshift NM_001407745.1:c.5003_5004insC NP_001394674.1:p.Trp1670Leufs frameshift NM_001407746.1:c.5003_5004insC NP_001394675.1:p.Trp1670Leufs frameshift NM_001407747.1:c.5003_5004insC NP_001394676.1:p.Trp1670Leufs frameshift NM_001407748.1:c.5003_5004insC NP_001394677.1:p.Trp1670Leufs frameshift NM_001407749.1:c.5003_5004insC NP_001394678.1:p.Trp1670Leufs frameshift NM_001407750.1:c.5003_5004insC NP_001394679.1:p.Trp1670Leufs frameshift NM_001407751.1:c.5003_5004insC NP_001394680.1:p.Trp1670Leufs frameshift NM_001407752.1:c.5003_5004insC NP_001394681.1:p.Trp1670Leufs frameshift NM_001407838.1:c.5000_5001insC NP_001394767.1:p.Trp1669Leufs frameshift NM_001407839.1:c.5000_5001insC NP_001394768.1:p.Trp1669Leufs frameshift NM_001407841.1:c.5000_5001insC NP_001394770.1:p.Trp1669Leufs frameshift NM_001407842.1:c.5000_5001insC NP_001394771.1:p.Trp1669Leufs frameshift NM_001407843.1:c.5000_5001insC NP_001394772.1:p.Trp1669Leufs frameshift NM_001407844.1:c.5000_5001insC NP_001394773.1:p.Trp1669Leufs frameshift NM_001407845.1:c.5000_5001insC NP_001394774.1:p.Trp1669Leufs frameshift NM_001407846.1:c.5000_5001insC NP_001394775.1:p.Trp1669Leufs frameshift NM_001407847.1:c.5000_5001insC NP_001394776.1:p.Trp1669Leufs frameshift NM_001407848.1:c.5000_5001insC NP_001394777.1:p.Trp1669Leufs frameshift NM_001407849.1:c.5000_5001insC NP_001394778.1:p.Trp1669Leufs frameshift NM_001407850.1:c.5000_5001insC NP_001394779.1:p.Trp1669Leufs frameshift NM_001407851.1:c.5000_5001insC NP_001394780.1:p.Trp1669Leufs frameshift NM_001407852.1:c.5000_5001insC NP_001394781.1:p.Trp1669Leufs frameshift NM_001407853.1:c.5000_5001insC NP_001394782.1:p.Trp1669Leufs frameshift NM_001407854.1:c.5147_5148insC NP_001394783.1:p.Trp1718Leufs frameshift NM_001407858.1:c.5144_5145insC NP_001394787.1:p.Trp1717Leufs frameshift NM_001407859.1:c.5144_5145insC NP_001394788.1:p.Trp1717Leufs frameshift NM_001407860.1:c.5144_5145insC NP_001394789.1:p.Trp1717Leufs frameshift NM_001407861.1:c.5141_5142insC NP_001394790.1:p.Trp1716Leufs frameshift NM_001407862.1:c.4946_4947insC NP_001394791.1:p.Trp1651Leufs frameshift NM_001407874.1:c.4940_4941insC NP_001394803.1:p.Trp1649Leufs frameshift NM_001407875.1:c.4940_4941insC NP_001394804.1:p.Trp1649Leufs frameshift NM_001407879.1:c.4937_4938insC NP_001394808.1:p.Trp1648Leufs frameshift NM_001407881.1:c.4937_4938insC NP_001394810.1:p.Trp1648Leufs frameshift NM_001407882.1:c.4937_4938insC NP_001394811.1:p.Trp1648Leufs frameshift NM_001407884.1:c.4937_4938insC NP_001394813.1:p.Trp1648Leufs frameshift NM_001407885.1:c.4937_4938insC NP_001394814.1:p.Trp1648Leufs frameshift NM_001407886.1:c.4937_4938insC NP_001394815.1:p.Trp1648Leufs frameshift NM_001407887.1:c.4937_4938insC NP_001394816.1:p.Trp1648Leufs frameshift NM_001407889.1:c.4937_4938insC NP_001394818.1:p.Trp1648Leufs frameshift NM_001407894.1:c.4934_4935insC NP_001394823.1:p.Trp1647Leufs frameshift NM_001407895.1:c.4934_4935insC NP_001394824.1:p.Trp1647Leufs frameshift NM_001407896.1:c.4934_4935insC NP_001394825.1:p.Trp1647Leufs frameshift NM_001407897.1:c.4934_4935insC NP_001394826.1:p.Trp1647Leufs frameshift NM_001407898.1:c.4934_4935insC NP_001394827.1:p.Trp1647Leufs frameshift NM_001407899.1:c.4934_4935insC NP_001394828.1:p.Trp1647Leufs frameshift NM_001407900.1:c.4934_4935insC NP_001394829.1:p.Trp1647Leufs frameshift NM_001407902.1:c.4934_4935insC NP_001394831.1:p.Trp1647Leufs frameshift NM_001407904.1:c.4934_4935insC NP_001394833.1:p.Trp1647Leufs frameshift NM_001407906.1:c.4934_4935insC NP_001394835.1:p.Trp1647Leufs frameshift NM_001407907.1:c.4934_4935insC NP_001394836.1:p.Trp1647Leufs frameshift NM_001407908.1:c.4934_4935insC NP_001394837.1:p.Trp1647Leufs frameshift NM_001407909.1:c.4934_4935insC NP_001394838.1:p.Trp1647Leufs frameshift NM_001407910.1:c.4934_4935insC NP_001394839.1:p.Trp1647Leufs frameshift NM_001407915.1:c.4931_4932insC NP_001394844.1:p.Trp1646Leufs frameshift NM_001407916.1:c.4931_4932insC NP_001394845.1:p.Trp1646Leufs frameshift NM_001407917.1:c.4931_4932insC NP_001394846.1:p.Trp1646Leufs frameshift NM_001407918.1:c.4931_4932insC NP_001394847.1:p.Trp1646Leufs frameshift NM_001407919.1:c.5024_5025insC NP_001394848.1:p.Trp1677Leufs frameshift NM_001407920.1:c.4883_4884insC NP_001394849.1:p.Trp1630Leufs frameshift NM_001407921.1:c.4883_4884insC NP_001394850.1:p.Trp1630Leufs frameshift NM_001407922.1:c.4883_4884insC NP_001394851.1:p.Trp1630Leufs frameshift NM_001407923.1:c.4883_4884insC NP_001394852.1:p.Trp1630Leufs frameshift NM_001407924.1:c.4883_4884insC NP_001394853.1:p.Trp1630Leufs frameshift NM_001407925.1:c.4883_4884insC NP_001394854.1:p.Trp1630Leufs frameshift NM_001407926.1:c.4883_4884insC NP_001394855.1:p.Trp1630Leufs frameshift NM_001407927.1:c.4880_4881insC NP_001394856.1:p.Trp1629Leufs frameshift NM_001407928.1:c.4880_4881insC NP_001394857.1:p.Trp1629Leufs frameshift NM_001407929.1:c.4880_4881insC NP_001394858.1:p.Trp1629Leufs frameshift NM_001407930.1:c.4880_4881insC NP_001394859.1:p.Trp1629Leufs frameshift NM_001407931.1:c.4880_4881insC NP_001394860.1:p.Trp1629Leufs frameshift NM_001407932.1:c.4880_4881insC NP_001394861.1:p.Trp1629Leufs frameshift NM_001407933.1:c.4880_4881insC NP_001394862.1:p.Trp1629Leufs frameshift NM_001407934.1:c.4877_4878insC NP_001394863.1:p.Trp1628Leufs frameshift NM_001407935.1:c.4877_4878insC NP_001394864.1:p.Trp1628Leufs frameshift NM_001407936.1:c.4877_4878insC NP_001394865.1:p.Trp1628Leufs frameshift NM_001407937.1:c.5024_5025insC NP_001394866.1:p.Trp1677Leufs frameshift NM_001407938.1:c.5024_5025insC NP_001394867.1:p.Trp1677Leufs frameshift NM_001407939.1:c.5021_5022insC NP_001394868.1:p.Trp1676Leufs frameshift NM_001407940.1:c.5021_5022insC NP_001394869.1:p.Trp1676Leufs frameshift NM_001407941.1:c.5018_5019insC NP_001394870.1:p.Trp1675Leufs frameshift NM_001407942.1:c.5006_5007insC NP_001394871.1:p.Trp1671Leufs frameshift NM_001407943.1:c.5003_5004insC NP_001394872.1:p.Trp1670Leufs frameshift NM_001407944.1:c.5003_5004insC NP_001394873.1:p.Trp1670Leufs frameshift NM_001407945.1:c.5003_5004insC NP_001394874.1:p.Trp1670Leufs frameshift NM_001407946.1:c.4814_4815insC NP_001394875.1:p.Trp1607Leufs frameshift NM_001407947.1:c.4814_4815insC NP_001394876.1:p.Trp1607Leufs frameshift NM_001407948.1:c.4814_4815insC NP_001394877.1:p.Trp1607Leufs frameshift NM_001407949.1:c.4814_4815insC NP_001394878.1:p.Trp1607Leufs frameshift NM_001407950.1:c.4811_4812insC NP_001394879.1:p.Trp1606Leufs frameshift NM_001407951.1:c.4811_4812insC NP_001394880.1:p.Trp1606Leufs frameshift NM_001407952.1:c.4811_4812insC NP_001394881.1:p.Trp1606Leufs frameshift NM_001407953.1:c.4811_4812insC NP_001394882.1:p.Trp1606Leufs frameshift NM_001407954.1:c.4811_4812insC NP_001394883.1:p.Trp1606Leufs frameshift NM_001407955.1:c.4811_4812insC NP_001394884.1:p.Trp1606Leufs frameshift NM_001407956.1:c.4808_4809insC NP_001394885.1:p.Trp1605Leufs frameshift NM_001407957.1:c.4808_4809insC NP_001394886.1:p.Trp1605Leufs frameshift NM_001407958.1:c.4808_4809insC NP_001394887.1:p.Trp1605Leufs frameshift NM_001407959.1:c.4766_4767insC NP_001394888.1:p.Trp1591Leufs frameshift NM_001407960.1:c.4763_4764insC NP_001394889.1:p.Trp1590Leufs frameshift NM_001407962.1:c.4763_4764insC NP_001394891.1:p.Trp1590Leufs frameshift NM_001407963.1:c.4760_4761insC NP_001394892.1:p.Trp1589Leufs frameshift NM_001407964.1:c.4685_4686insC NP_001394893.1:p.Trp1564Leufs frameshift NM_001407965.1:c.4640_4641insC NP_001394894.1:p.Trp1549Leufs frameshift NM_001407966.1:c.4259_4260insC NP_001394895.1:p.Trp1422Leufs frameshift NM_001407967.1:c.4256_4257insC NP_001394896.1:p.Trp1421Leufs frameshift NM_001407968.1:c.2543_2544insC NP_001394897.1:p.Trp850Leufs frameshift NM_001407969.1:c.2540_2541insC NP_001394898.1:p.Trp849Leufs frameshift NM_001407970.1:c.1904_1905insC NP_001394899.1:p.Trp637Leufs frameshift NM_001407971.1:c.1904_1905insC NP_001394900.1:p.Trp637Leufs frameshift NM_001407972.1:c.1901_1902insC NP_001394901.1:p.Trp636Leufs frameshift NM_001407973.1:c.1838_1839insC NP_001394902.1:p.Trp615Leufs frameshift NM_001407974.1:c.1838_1839insC NP_001394903.1:p.Trp615Leufs frameshift NM_001407975.1:c.1838_1839insC NP_001394904.1:p.Trp615Leufs frameshift NM_001407976.1:c.1838_1839insC NP_001394905.1:p.Trp615Leufs frameshift NM_001407977.1:c.1838_1839insC NP_001394906.1:p.Trp615Leufs frameshift NM_001407978.1:c.1838_1839insC NP_001394907.1:p.Trp615Leufs frameshift NM_001407979.1:c.1835_1836insC NP_001394908.1:p.Trp614Leufs frameshift NM_001407980.1:c.1835_1836insC NP_001394909.1:p.Trp614Leufs frameshift NM_001407981.1:c.1835_1836insC NP_001394910.1:p.Trp614Leufs frameshift NM_001407982.1:c.1835_1836insC NP_001394911.1:p.Trp614Leufs frameshift NM_001407983.1:c.1835_1836insC NP_001394912.1:p.Trp614Leufs frameshift NM_001407984.1:c.1835_1836insC NP_001394913.1:p.Trp614Leufs frameshift NM_001407985.1:c.1835_1836insC NP_001394914.1:p.Trp614Leufs frameshift NM_001407986.1:c.1835_1836insC NP_001394915.1:p.Trp614Leufs frameshift NM_001407990.1:c.1835_1836insC NP_001394919.1:p.Trp614Leufs frameshift NM_001407991.1:c.1835_1836insC NP_001394920.1:p.Trp614Leufs frameshift NM_001407992.1:c.1835_1836insC NP_001394921.1:p.Trp614Leufs frameshift NM_001407993.1:c.1835_1836insC NP_001394922.1:p.Trp614Leufs frameshift NM_001408392.1:c.1832_1833insC NP_001395321.1:p.Trp613Leufs frameshift NM_001408396.1:c.1832_1833insC NP_001395325.1:p.Trp613Leufs frameshift NM_001408397.1:c.1832_1833insC NP_001395326.1:p.Trp613Leufs frameshift NM_001408398.1:c.1832_1833insC NP_001395327.1:p.Trp613Leufs frameshift NM_001408399.1:c.1832_1833insC NP_001395328.1:p.Trp613Leufs frameshift NM_001408400.1:c.1832_1833insC NP_001395329.1:p.Trp613Leufs frameshift NM_001408401.1:c.1832_1833insC NP_001395330.1:p.Trp613Leufs frameshift NM_001408402.1:c.1832_1833insC NP_001395331.1:p.Trp613Leufs frameshift NM_001408403.1:c.1832_1833insC NP_001395332.1:p.Trp613Leufs frameshift NM_001408404.1:c.1832_1833insC NP_001395333.1:p.Trp613Leufs frameshift NM_001408406.1:c.1829_1830insC NP_001395335.1:p.Trp612Leufs frameshift NM_001408407.1:c.1829_1830insC NP_001395336.1:p.Trp612Leufs frameshift NM_001408408.1:c.1829_1830insC NP_001395337.1:p.Trp612Leufs frameshift NM_001408409.1:c.1826_1827insC NP_001395338.1:p.Trp611Leufs frameshift NM_001408410.1:c.1763_1764insC NP_001395339.1:p.Trp590Leufs frameshift NM_001408411.1:c.1760_1761insC NP_001395340.1:p.Trp589Leufs frameshift NM_001408412.1:c.1757_1758insC NP_001395341.1:p.Trp588Leufs frameshift NM_001408413.1:c.1757_1758insC NP_001395342.1:p.Trp588Leufs frameshift NM_001408414.1:c.1757_1758insC NP_001395343.1:p.Trp588Leufs frameshift NM_001408415.1:c.1757_1758insC NP_001395344.1:p.Trp588Leufs frameshift NM_001408416.1:c.1757_1758insC NP_001395345.1:p.Trp588Leufs frameshift NM_001408418.1:c.1721_1722insC NP_001395347.1:p.Trp576Leufs frameshift NM_001408419.1:c.1721_1722insC NP_001395348.1:p.Trp576Leufs frameshift NM_001408420.1:c.1721_1722insC NP_001395349.1:p.Trp576Leufs frameshift NM_001408421.1:c.1718_1719insC NP_001395350.1:p.Trp575Leufs frameshift NM_001408422.1:c.1718_1719insC NP_001395351.1:p.Trp575Leufs frameshift NM_001408423.1:c.1718_1719insC NP_001395352.1:p.Trp575Leufs frameshift NM_001408424.1:c.1718_1719insC NP_001395353.1:p.Trp575Leufs frameshift NM_001408425.1:c.1715_1716insC NP_001395354.1:p.Trp574Leufs frameshift NM_001408426.1:c.1715_1716insC NP_001395355.1:p.Trp574Leufs frameshift NM_001408427.1:c.1715_1716insC NP_001395356.1:p.Trp574Leufs frameshift NM_001408428.1:c.1715_1716insC NP_001395357.1:p.Trp574Leufs frameshift NM_001408429.1:c.1715_1716insC NP_001395358.1:p.Trp574Leufs frameshift NM_001408430.1:c.1715_1716insC NP_001395359.1:p.Trp574Leufs frameshift NM_001408431.1:c.1715_1716insC NP_001395360.1:p.Trp574Leufs frameshift NM_001408432.1:c.1712_1713insC NP_001395361.1:p.Trp573Leufs frameshift NM_001408433.1:c.1712_1713insC NP_001395362.1:p.Trp573Leufs frameshift NM_001408434.1:c.1712_1713insC NP_001395363.1:p.Trp573Leufs frameshift NM_001408435.1:c.1712_1713insC NP_001395364.1:p.Trp573Leufs frameshift NM_001408436.1:c.1712_1713insC NP_001395365.1:p.Trp573Leufs frameshift NM_001408437.1:c.1712_1713insC NP_001395366.1:p.Trp573Leufs frameshift NM_001408438.1:c.1712_1713insC NP_001395367.1:p.Trp573Leufs frameshift NM_001408439.1:c.1712_1713insC NP_001395368.1:p.Trp573Leufs frameshift NM_001408440.1:c.1712_1713insC NP_001395369.1:p.Trp573Leufs frameshift NM_001408441.1:c.1712_1713insC NP_001395370.1:p.Trp573Leufs frameshift NM_001408442.1:c.1712_1713insC NP_001395371.1:p.Trp573Leufs frameshift NM_001408443.1:c.1712_1713insC NP_001395372.1:p.Trp573Leufs frameshift NM_001408444.1:c.1712_1713insC NP_001395373.1:p.Trp573Leufs frameshift NM_001408445.1:c.1709_1710insC NP_001395374.1:p.Trp572Leufs frameshift NM_001408446.1:c.1709_1710insC NP_001395375.1:p.Trp572Leufs frameshift NM_001408447.1:c.1709_1710insC NP_001395376.1:p.Trp572Leufs frameshift NM_001408448.1:c.1709_1710insC NP_001395377.1:p.Trp572Leufs frameshift NM_001408450.1:c.1709_1710insC NP_001395379.1:p.Trp572Leufs frameshift NM_001408451.1:c.1703_1704insC NP_001395380.1:p.Trp570Leufs frameshift NM_001408452.1:c.1697_1698insC NP_001395381.1:p.Trp568Leufs frameshift NM_001408453.1:c.1697_1698insC NP_001395382.1:p.Trp568Leufs frameshift NM_001408454.1:c.1697_1698insC NP_001395383.1:p.Trp568Leufs frameshift NM_001408455.1:c.1697_1698insC NP_001395384.1:p.Trp568Leufs frameshift NM_001408456.1:c.1697_1698insC NP_001395385.1:p.Trp568Leufs frameshift NM_001408457.1:c.1697_1698insC NP_001395386.1:p.Trp568Leufs frameshift NM_001408458.1:c.1694_1695insC NP_001395387.1:p.Trp567Leufs frameshift NM_001408459.1:c.1694_1695insC NP_001395388.1:p.Trp567Leufs frameshift NM_001408460.1:c.1694_1695insC NP_001395389.1:p.Trp567Leufs frameshift NM_001408461.1:c.1694_1695insC NP_001395390.1:p.Trp567Leufs frameshift NM_001408462.1:c.1694_1695insC NP_001395391.1:p.Trp567Leufs frameshift NM_001408463.1:c.1694_1695insC NP_001395392.1:p.Trp567Leufs frameshift NM_001408464.1:c.1694_1695insC NP_001395393.1:p.Trp567Leufs frameshift NM_001408465.1:c.1694_1695insC NP_001395394.1:p.Trp567Leufs frameshift NM_001408466.1:c.1694_1695insC NP_001395395.1:p.Trp567Leufs frameshift NM_001408467.1:c.1694_1695insC NP_001395396.1:p.Trp567Leufs frameshift NM_001408468.1:c.1691_1692insC NP_001395397.1:p.Trp566Leufs frameshift NM_001408469.1:c.1691_1692insC NP_001395398.1:p.Trp566Leufs frameshift NM_001408470.1:c.1691_1692insC NP_001395399.1:p.Trp566Leufs frameshift NM_001408472.1:c.1835_1836insC NP_001395401.1:p.Trp614Leufs frameshift NM_001408473.1:c.1832_1833insC NP_001395402.1:p.Trp613Leufs frameshift NM_001408474.1:c.1637_1638insC NP_001395403.1:p.Trp548Leufs frameshift NM_001408475.1:c.1634_1635insC NP_001395404.1:p.Trp547Leufs frameshift NM_001408476.1:c.1634_1635insC NP_001395405.1:p.Trp547Leufs frameshift NM_001408478.1:c.1628_1629insC NP_001395407.1:p.Trp545Leufs frameshift NM_001408479.1:c.1628_1629insC NP_001395408.1:p.Trp545Leufs frameshift NM_001408480.1:c.1628_1629insC NP_001395409.1:p.Trp545Leufs frameshift NM_001408481.1:c.1625_1626insC NP_001395410.1:p.Trp544Leufs frameshift NM_001408482.1:c.1625_1626insC NP_001395411.1:p.Trp544Leufs frameshift NM_001408483.1:c.1625_1626insC NP_001395412.1:p.Trp544Leufs frameshift NM_001408484.1:c.1625_1626insC NP_001395413.1:p.Trp544Leufs frameshift NM_001408485.1:c.1625_1626insC NP_001395414.1:p.Trp544Leufs frameshift NM_001408489.1:c.1625_1626insC NP_001395418.1:p.Trp544Leufs frameshift NM_001408490.1:c.1625_1626insC NP_001395419.1:p.Trp544Leufs frameshift NM_001408491.1:c.1625_1626insC NP_001395420.1:p.Trp544Leufs frameshift NM_001408492.1:c.1622_1623insC NP_001395421.1:p.Trp543Leufs frameshift NM_001408493.1:c.1622_1623insC NP_001395422.1:p.Trp543Leufs frameshift NM_001408494.1:c.1598_1599insC NP_001395423.1:p.Trp535Leufs frameshift NM_001408495.1:c.1592_1593insC NP_001395424.1:p.Trp533Leufs frameshift NM_001408496.1:c.1574_1575insC NP_001395425.1:p.Trp527Leufs frameshift NM_001408497.1:c.1574_1575insC NP_001395426.1:p.Trp527Leufs frameshift NM_001408498.1:c.1574_1575insC NP_001395427.1:p.Trp527Leufs frameshift NM_001408499.1:c.1574_1575insC NP_001395428.1:p.Trp527Leufs frameshift NM_001408500.1:c.1574_1575insC NP_001395429.1:p.Trp527Leufs frameshift NM_001408501.1:c.1574_1575insC NP_001395430.1:p.Trp527Leufs frameshift NM_001408502.1:c.1571_1572insC NP_001395431.1:p.Trp526Leufs frameshift NM_001408503.1:c.1571_1572insC NP_001395432.1:p.Trp526Leufs frameshift NM_001408504.1:c.1571_1572insC NP_001395433.1:p.Trp526Leufs frameshift NM_001408505.1:c.1568_1569insC NP_001395434.1:p.Trp525Leufs frameshift NM_001408506.1:c.1511_1512insC NP_001395435.1:p.Trp506Leufs frameshift NM_001408507.1:c.1508_1509insC NP_001395436.1:p.Trp505Leufs frameshift NM_001408508.1:c.1499_1500insC NP_001395437.1:p.Trp502Leufs frameshift NM_001408509.1:c.1496_1497insC NP_001395438.1:p.Trp501Leufs frameshift NM_001408510.1:c.1457_1458insC NP_001395439.1:p.Trp488Leufs frameshift NM_001408511.1:c.1454_1455insC NP_001395440.1:p.Trp487Leufs frameshift NM_001408512.1:c.1334_1335insC NP_001395441.1:p.Trp447Leufs frameshift NM_001408513.1:c.1307_1308insC NP_001395442.1:p.Trp438Leufs frameshift NM_001408514.1:c.911_912insC NP_001395443.1:p.Trp306Leufs frameshift NM_007297.4:c.5006_5007insC NP_009228.2:p.Trp1671fs frameshift NM_007298.4:c.1835_1836insC NP_009229.2:p.Trp614Leufs frameshift NM_007299.4:c.1835_1836insC NP_009230.2:p.Trp614fs frameshift NM_007300.4:c.5210_5211insC NP_009231.2:p.Trp1739fs frameshift NM_007304.2:c.1835_1836insC NP_009235.2:p.Trp614Leufs frameshift NR_027676.2:n.5324_5325insC non-coding transcript variant NC_000017.11:g.43063878_43063879insG NC_000017.10:g.41215895_41215896insG NG_005905.2:g.154105_154106insC LRG_292:g.154105_154106insC LRG_292t1:c.5147_5148insC LRG_292p1:p.Trp1718Leufs - Protein change
- W1739fs, W614fs, W1671fs, W1718fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43063878::G
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13471 | 15364 | |
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. |
|---|---|---|---|---|
| Pathogenic (1) |
no assertion criteria provided
|
Jan 31, 2014 | RCV000496555.2 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Jan 31, 2014)
C
Contributing to aggregate classification
|
no assertion criteria provided
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587470.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
|
|
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs1135401883 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
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Record last updated Jul 15, 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.