. According to the ClinGen ENIGMA BRCA1 v1.0.0 criteria we chose this criterium: PM2 (supporting pathogenic): not in gnomAD
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5081_5086del (p.Glu1694_Phe1695del)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(1)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5081_5086del (p.Glu1694_Phe1695del)
Variation ID: 2687489 Accession: VCV002687489.1
- Type and length
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Deletion, 6 bp
- Location
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Cytogenetic: 17q21.31 17: 43063940-43063945 (GRCh38) [ NCBI UCSC ] 17: 41215957-41215962 (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 Jan 26, 2024 Jan 26, 2024 Jan 9, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5081_5086del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1694_Phe1695del inframe deletion NM_001407571.1:c.4868_4873del NP_001394500.1:p.Glu1623_Phe1624del inframe deletion NM_001407581.1:c.5147_5152del NP_001394510.1:p.Glu1716_Phe1717del inframe deletion NM_001407582.1:c.5147_5152del NP_001394511.1:p.Glu1716_Phe1717del inframe deletion NM_001407583.1:c.5144_5149del NP_001394512.1:p.Glu1715_Phe1716del inframe deletion NM_001407585.1:c.5144_5149del NP_001394514.1:p.Glu1715_Phe1716del inframe deletion NM_001407587.1:c.5144_5149del NP_001394516.1:p.Glu1715_Phe1716del inframe deletion NM_001407590.1:c.5141_5146del NP_001394519.1:p.Glu1714_Phe1715del inframe deletion NM_001407591.1:c.5141_5146del NP_001394520.1:p.Glu1714_Phe1715del inframe deletion NM_001407593.1:c.5081_5086del NP_001394522.1:p.Glu1694_Phe1695del inframe deletion NM_001407594.1:c.5081_5086del NP_001394523.1:p.Glu1694_Phe1695del inframe deletion NM_001407596.1:c.5081_5086del NP_001394525.1:p.Glu1694_Phe1695del inframe deletion NM_001407597.1:c.5081_5086del NP_001394526.1:p.Glu1694_Phe1695del inframe deletion NM_001407598.1:c.5081_5086del NP_001394527.1:p.Glu1694_Phe1695del inframe deletion NM_001407602.1:c.5081_5086del NP_001394531.1:p.Glu1694_Phe1695del inframe deletion NM_001407603.1:c.5081_5086del NP_001394532.1:p.Glu1694_Phe1695del inframe deletion NM_001407605.1:c.5081_5086del NP_001394534.1:p.Glu1694_Phe1695del inframe deletion NM_001407610.1:c.5078_5083del NP_001394539.1:p.Glu1693_Phe1694del inframe deletion NM_001407611.1:c.5078_5083del NP_001394540.1:p.Glu1693_Phe1694del inframe deletion NM_001407612.1:c.5078_5083del NP_001394541.1:p.Glu1693_Phe1694del inframe deletion NM_001407613.1:c.5078_5083del NP_001394542.1:p.Glu1693_Phe1694del inframe deletion NM_001407614.1:c.5078_5083del NP_001394543.1:p.Glu1693_Phe1694del inframe deletion NM_001407615.1:c.5078_5083del NP_001394544.1:p.Glu1693_Phe1694del inframe deletion NM_001407616.1:c.5078_5083del NP_001394545.1:p.Glu1693_Phe1694del inframe deletion NM_001407617.1:c.5078_5083del NP_001394546.1:p.Glu1693_Phe1694del inframe deletion NM_001407618.1:c.5078_5083del NP_001394547.1:p.Glu1693_Phe1694del inframe deletion NM_001407619.1:c.5078_5083del NP_001394548.1:p.Glu1693_Phe1694del inframe deletion NM_001407620.1:c.5078_5083del NP_001394549.1:p.Glu1693_Phe1694del inframe deletion NM_001407621.1:c.5078_5083del NP_001394550.1:p.Glu1693_Phe1694del inframe deletion NM_001407622.1:c.5078_5083del NP_001394551.1:p.Glu1693_Phe1694del inframe deletion NM_001407623.1:c.5078_5083del NP_001394552.1:p.Glu1693_Phe1694del inframe deletion NM_001407624.1:c.5078_5083del NP_001394553.1:p.Glu1693_Phe1694del inframe deletion NM_001407625.1:c.5078_5083del NP_001394554.1:p.Glu1693_Phe1694del inframe deletion NM_001407626.1:c.5078_5083del NP_001394555.1:p.Glu1693_Phe1694del inframe deletion NM_001407627.1:c.5075_5080del NP_001394556.1:p.Glu1692_Phe1693del inframe deletion NM_001407628.1:c.5075_5080del NP_001394557.1:p.Glu1692_Phe1693del inframe deletion NM_001407629.1:c.5075_5080del NP_001394558.1:p.Glu1692_Phe1693del inframe deletion NM_001407630.1:c.5075_5080del NP_001394559.1:p.Glu1692_Phe1693del inframe deletion NM_001407631.1:c.5075_5080del NP_001394560.1:p.Glu1692_Phe1693del inframe deletion NM_001407632.1:c.5075_5080del NP_001394561.1:p.Glu1692_Phe1693del inframe deletion NM_001407633.1:c.5075_5080del NP_001394562.1:p.Glu1692_Phe1693del inframe deletion NM_001407634.1:c.5075_5080del NP_001394563.1:p.Glu1692_Phe1693del inframe deletion NM_001407635.1:c.5075_5080del NP_001394564.1:p.Glu1692_Phe1693del inframe deletion NM_001407636.1:c.5075_5080del NP_001394565.1:p.Glu1692_Phe1693del inframe deletion NM_001407637.1:c.5075_5080del NP_001394566.1:p.Glu1692_Phe1693del inframe deletion NM_001407638.1:c.5075_5080del NP_001394567.1:p.Glu1692_Phe1693del inframe deletion NM_001407639.1:c.5075_5080del NP_001394568.1:p.Glu1692_Phe1693del inframe deletion NM_001407640.1:c.5075_5080del NP_001394569.1:p.Glu1692_Phe1693del inframe deletion NM_001407641.1:c.5075_5080del NP_001394570.1:p.Glu1692_Phe1693del inframe deletion NM_001407642.1:c.5075_5080del NP_001394571.1:p.Glu1692_Phe1693del inframe deletion NM_001407644.1:c.5072_5077del NP_001394573.1:p.Glu1691_Phe1692del inframe deletion NM_001407645.1:c.5072_5077del NP_001394574.1:p.Glu1691_Phe1692del inframe deletion NM_001407646.1:c.5069_5074del NP_001394575.1:p.Glu1690_Phe1691del inframe deletion NM_001407647.1:c.5066_5071del NP_001394576.1:p.Glu1689_Phe1690del inframe deletion NM_001407648.1:c.5024_5029del NP_001394577.1:p.Glu1675_Phe1676del inframe deletion NM_001407649.1:c.5021_5026del NP_001394578.1:p.Glu1674_Phe1675del inframe deletion NM_001407652.1:c.5075-572_5075-567del intron variant NM_001407653.1:c.5003_5008del NP_001394582.1:p.Glu1668_Phe1669del inframe deletion NM_001407654.1:c.5003_5008del NP_001394583.1:p.Glu1668_Phe1669del inframe deletion NM_001407655.1:c.5003_5008del NP_001394584.1:p.Glu1668_Phe1669del inframe deletion NM_001407656.1:c.5000_5005del NP_001394585.1:p.Glu1667_Phe1668del inframe deletion NM_001407657.1:c.5000_5005del NP_001394586.1:p.Glu1667_Phe1668del inframe deletion NM_001407658.1:c.5000_5005del NP_001394587.1:p.Glu1667_Phe1668del inframe deletion NM_001407659.1:c.4997_5002del NP_001394588.1:p.Glu1666_Phe1667del inframe deletion NM_001407660.1:c.4997_5002del NP_001394589.1:p.Glu1666_Phe1667del inframe deletion NM_001407661.1:c.4997_5002del NP_001394590.1:p.Glu1666_Phe1667del inframe deletion NM_001407662.1:c.4997_5002del NP_001394591.1:p.Glu1666_Phe1667del inframe deletion NM_001407663.1:c.4997_5002del NP_001394592.1:p.Glu1666_Phe1667del inframe deletion NM_001407664.1:c.4958_4963del NP_001394593.1:p.Glu1653_Phe1654del inframe deletion NM_001407665.1:c.4958_4963del NP_001394594.1:p.Glu1653_Phe1654del inframe deletion NM_001407666.1:c.4958_4963del NP_001394595.1:p.Glu1653_Phe1654del inframe deletion NM_001407667.1:c.4958_4963del NP_001394596.1:p.Glu1653_Phe1654del inframe deletion NM_001407668.1:c.4958_4963del NP_001394597.1:p.Glu1653_Phe1654del inframe deletion NM_001407669.1:c.4958_4963del NP_001394598.1:p.Glu1653_Phe1654del inframe deletion NM_001407670.1:c.4955_4960del NP_001394599.1:p.Glu1652_Phe1653del inframe deletion NM_001407671.1:c.4955_4960del NP_001394600.1:p.Glu1652_Phe1653del inframe deletion NM_001407672.1:c.4955_4960del NP_001394601.1:p.Glu1652_Phe1653del inframe deletion NM_001407673.1:c.4955_4960del NP_001394602.1:p.Glu1652_Phe1653del inframe deletion NM_001407674.1:c.4955_4960del NP_001394603.1:p.Glu1652_Phe1653del inframe deletion NM_001407675.1:c.4955_4960del NP_001394604.1:p.Glu1652_Phe1653del inframe deletion NM_001407676.1:c.4955_4960del NP_001394605.1:p.Glu1652_Phe1653del inframe deletion NM_001407677.1:c.4955_4960del NP_001394606.1:p.Glu1652_Phe1653del inframe deletion NM_001407678.1:c.4955_4960del NP_001394607.1:p.Glu1652_Phe1653del inframe deletion NM_001407679.1:c.4955_4960del NP_001394608.1:p.Glu1652_Phe1653del inframe deletion NM_001407680.1:c.4955_4960del NP_001394609.1:p.Glu1652_Phe1653del inframe deletion NM_001407681.1:c.4952_4957del NP_001394610.1:p.Glu1651_Phe1652del inframe deletion NM_001407682.1:c.4952_4957del NP_001394611.1:p.Glu1651_Phe1652del inframe deletion NM_001407683.1:c.4952_4957del NP_001394612.1:p.Glu1651_Phe1652del inframe deletion NM_001407684.1:c.5081_5086del NP_001394613.1:p.Glu1694_Phe1695del inframe deletion NM_001407685.1:c.4952_4957del NP_001394614.1:p.Glu1651_Phe1652del inframe deletion NM_001407686.1:c.4952_4957del NP_001394615.1:p.Glu1651_Phe1652del inframe deletion NM_001407687.1:c.4952_4957del NP_001394616.1:p.Glu1651_Phe1652del inframe deletion NM_001407688.1:c.4952_4957del NP_001394617.1:p.Glu1651_Phe1652del inframe deletion NM_001407689.1:c.4952_4957del NP_001394618.1:p.Glu1651_Phe1652del inframe deletion NM_001407690.1:c.4949_4954del NP_001394619.1:p.Glu1650_Phe1651del inframe deletion NM_001407691.1:c.4949_4954del NP_001394620.1:p.Glu1650_Phe1651del inframe deletion NM_001407692.1:c.4940_4945del NP_001394621.1:p.Glu1647_Phe1648del inframe deletion NM_001407694.1:c.4940_4945del NP_001394623.1:p.Glu1647_Phe1648del inframe deletion NM_001407695.1:c.4940_4945del NP_001394624.1:p.Glu1647_Phe1648del inframe deletion NM_001407696.1:c.4940_4945del NP_001394625.1:p.Glu1647_Phe1648del inframe deletion NM_001407697.1:c.4940_4945del NP_001394626.1:p.Glu1647_Phe1648del inframe deletion NM_001407698.1:c.4940_4945del NP_001394627.1:p.Glu1647_Phe1648del inframe deletion NM_001407724.1:c.4940_4945del NP_001394653.1:p.Glu1647_Phe1648del inframe deletion NM_001407725.1:c.4940_4945del NP_001394654.1:p.Glu1647_Phe1648del inframe deletion NM_001407726.1:c.4940_4945del NP_001394655.1:p.Glu1647_Phe1648del inframe deletion NM_001407727.1:c.4940_4945del NP_001394656.1:p.Glu1647_Phe1648del inframe deletion NM_001407728.1:c.4940_4945del NP_001394657.1:p.Glu1647_Phe1648del inframe deletion NM_001407729.1:c.4940_4945del NP_001394658.1:p.Glu1647_Phe1648del inframe deletion NM_001407730.1:c.4940_4945del NP_001394659.1:p.Glu1647_Phe1648del inframe deletion NM_001407731.1:c.4940_4945del NP_001394660.1:p.Glu1647_Phe1648del inframe deletion NM_001407732.1:c.4937_4942del NP_001394661.1:p.Glu1646_Phe1647del inframe deletion NM_001407733.1:c.4937_4942del NP_001394662.1:p.Glu1646_Phe1647del inframe deletion NM_001407734.1:c.4937_4942del NP_001394663.1:p.Glu1646_Phe1647del inframe deletion NM_001407735.1:c.4937_4942del NP_001394664.1:p.Glu1646_Phe1647del inframe deletion NM_001407736.1:c.4937_4942del NP_001394665.1:p.Glu1646_Phe1647del inframe deletion NM_001407737.1:c.4937_4942del NP_001394666.1:p.Glu1646_Phe1647del inframe deletion NM_001407738.1:c.4937_4942del NP_001394667.1:p.Glu1646_Phe1647del inframe deletion NM_001407739.1:c.4937_4942del NP_001394668.1:p.Glu1646_Phe1647del inframe deletion NM_001407740.1:c.4937_4942del NP_001394669.1:p.Glu1646_Phe1647del inframe deletion NM_001407741.1:c.4937_4942del NP_001394670.1:p.Glu1646_Phe1647del inframe deletion NM_001407742.1:c.4937_4942del NP_001394671.1:p.Glu1646_Phe1647del inframe deletion NM_001407743.1:c.4937_4942del NP_001394672.1:p.Glu1646_Phe1647del inframe deletion NM_001407744.1:c.4937_4942del NP_001394673.1:p.Glu1646_Phe1647del inframe deletion NM_001407745.1:c.4937_4942del NP_001394674.1:p.Glu1646_Phe1647del inframe deletion NM_001407746.1:c.4937_4942del NP_001394675.1:p.Glu1646_Phe1647del inframe deletion NM_001407747.1:c.4937_4942del NP_001394676.1:p.Glu1646_Phe1647del inframe deletion NM_001407748.1:c.4937_4942del NP_001394677.1:p.Glu1646_Phe1647del inframe deletion NM_001407749.1:c.4937_4942del NP_001394678.1:p.Glu1646_Phe1647del inframe deletion NM_001407750.1:c.4937_4942del NP_001394679.1:p.Glu1646_Phe1647del inframe deletion NM_001407751.1:c.4937_4942del NP_001394680.1:p.Glu1646_Phe1647del inframe deletion NM_001407752.1:c.4937_4942del NP_001394681.1:p.Glu1646_Phe1647del inframe deletion NM_001407838.1:c.4934_4939del NP_001394767.1:p.Glu1645_Phe1646del inframe deletion NM_001407839.1:c.4934_4939del NP_001394768.1:p.Glu1645_Phe1646del inframe deletion NM_001407841.1:c.4934_4939del NP_001394770.1:p.Glu1645_Phe1646del inframe deletion NM_001407842.1:c.4934_4939del NP_001394771.1:p.Glu1645_Phe1646del inframe deletion NM_001407843.1:c.4934_4939del NP_001394772.1:p.Glu1645_Phe1646del inframe deletion NM_001407844.1:c.4934_4939del NP_001394773.1:p.Glu1645_Phe1646del inframe deletion NM_001407845.1:c.4934_4939del NP_001394774.1:p.Glu1645_Phe1646del inframe deletion NM_001407846.1:c.4934_4939del NP_001394775.1:p.Glu1645_Phe1646del inframe deletion NM_001407847.1:c.4934_4939del NP_001394776.1:p.Glu1645_Phe1646del inframe deletion NM_001407848.1:c.4934_4939del NP_001394777.1:p.Glu1645_Phe1646del inframe deletion NM_001407849.1:c.4934_4939del NP_001394778.1:p.Glu1645_Phe1646del inframe deletion NM_001407850.1:c.4934_4939del NP_001394779.1:p.Glu1645_Phe1646del inframe deletion NM_001407851.1:c.4934_4939del NP_001394780.1:p.Glu1645_Phe1646del inframe deletion NM_001407852.1:c.4934_4939del NP_001394781.1:p.Glu1645_Phe1646del inframe deletion NM_001407853.1:c.4934_4939del NP_001394782.1:p.Glu1645_Phe1646del inframe deletion NM_001407854.1:c.5081_5086del NP_001394783.1:p.Glu1694_Phe1695del inframe deletion NM_001407858.1:c.5078_5083del NP_001394787.1:p.Glu1693_Phe1694del inframe deletion NM_001407859.1:c.5078_5083del NP_001394788.1:p.Glu1693_Phe1694del inframe deletion NM_001407860.1:c.5078_5083del NP_001394789.1:p.Glu1693_Phe1694del inframe deletion NM_001407861.1:c.5075_5080del NP_001394790.1:p.Glu1692_Phe1693del inframe deletion NM_001407862.1:c.4880_4885del NP_001394791.1:p.Glu1627_Phe1628del inframe deletion NM_001407863.1:c.4949-572_4949-567del intron variant NM_001407874.1:c.4874_4879del NP_001394803.1:p.Glu1625_Phe1626del inframe deletion NM_001407875.1:c.4874_4879del NP_001394804.1:p.Glu1625_Phe1626del inframe deletion NM_001407879.1:c.4871_4876del NP_001394808.1:p.Glu1624_Phe1625del inframe deletion NM_001407881.1:c.4871_4876del NP_001394810.1:p.Glu1624_Phe1625del inframe deletion NM_001407882.1:c.4871_4876del NP_001394811.1:p.Glu1624_Phe1625del inframe deletion NM_001407884.1:c.4871_4876del NP_001394813.1:p.Glu1624_Phe1625del inframe deletion NM_001407885.1:c.4871_4876del NP_001394814.1:p.Glu1624_Phe1625del inframe deletion NM_001407886.1:c.4871_4876del NP_001394815.1:p.Glu1624_Phe1625del inframe deletion NM_001407887.1:c.4871_4876del NP_001394816.1:p.Glu1624_Phe1625del inframe deletion NM_001407889.1:c.4871_4876del NP_001394818.1:p.Glu1624_Phe1625del inframe deletion NM_001407894.1:c.4868_4873del NP_001394823.1:p.Glu1623_Phe1624del inframe deletion NM_001407895.1:c.4868_4873del NP_001394824.1:p.Glu1623_Phe1624del inframe deletion NM_001407896.1:c.4868_4873del NP_001394825.1:p.Glu1623_Phe1624del inframe deletion NM_001407897.1:c.4868_4873del NP_001394826.1:p.Glu1623_Phe1624del inframe deletion NM_001407898.1:c.4868_4873del NP_001394827.1:p.Glu1623_Phe1624del inframe deletion NM_001407899.1:c.4868_4873del NP_001394828.1:p.Glu1623_Phe1624del inframe deletion NM_001407900.1:c.4868_4873del NP_001394829.1:p.Glu1623_Phe1624del inframe deletion NM_001407902.1:c.4868_4873del NP_001394831.1:p.Glu1623_Phe1624del inframe deletion NM_001407904.1:c.4868_4873del NP_001394833.1:p.Glu1623_Phe1624del inframe deletion NM_001407906.1:c.4868_4873del NP_001394835.1:p.Glu1623_Phe1624del inframe deletion NM_001407907.1:c.4868_4873del NP_001394836.1:p.Glu1623_Phe1624del inframe deletion NM_001407908.1:c.4868_4873del NP_001394837.1:p.Glu1623_Phe1624del inframe deletion NM_001407909.1:c.4868_4873del NP_001394838.1:p.Glu1623_Phe1624del inframe deletion NM_001407910.1:c.4868_4873del NP_001394839.1:p.Glu1623_Phe1624del inframe deletion NM_001407915.1:c.4865_4870del NP_001394844.1:p.Glu1622_Phe1623del inframe deletion NM_001407916.1:c.4865_4870del NP_001394845.1:p.Glu1622_Phe1623del inframe deletion NM_001407917.1:c.4865_4870del NP_001394846.1:p.Glu1622_Phe1623del inframe deletion NM_001407918.1:c.4865_4870del NP_001394847.1:p.Glu1622_Phe1623del inframe deletion NM_001407919.1:c.4958_4963del NP_001394848.1:p.Glu1653_Phe1654del inframe deletion NM_001407920.1:c.4817_4822del NP_001394849.1:p.Glu1606_Phe1607del inframe deletion NM_001407921.1:c.4817_4822del NP_001394850.1:p.Glu1606_Phe1607del inframe deletion NM_001407922.1:c.4817_4822del NP_001394851.1:p.Glu1606_Phe1607del inframe deletion NM_001407923.1:c.4817_4822del NP_001394852.1:p.Glu1606_Phe1607del inframe deletion NM_001407924.1:c.4817_4822del NP_001394853.1:p.Glu1606_Phe1607del inframe deletion NM_001407925.1:c.4817_4822del NP_001394854.1:p.Glu1606_Phe1607del inframe deletion NM_001407926.1:c.4817_4822del NP_001394855.1:p.Glu1606_Phe1607del inframe deletion NM_001407927.1:c.4814_4819del NP_001394856.1:p.Glu1605_Phe1606del inframe deletion NM_001407928.1:c.4814_4819del NP_001394857.1:p.Glu1605_Phe1606del inframe deletion NM_001407929.1:c.4814_4819del NP_001394858.1:p.Glu1605_Phe1606del inframe deletion NM_001407930.1:c.4814_4819del NP_001394859.1:p.Glu1605_Phe1606del inframe deletion NM_001407931.1:c.4814_4819del NP_001394860.1:p.Glu1605_Phe1606del inframe deletion NM_001407932.1:c.4814_4819del NP_001394861.1:p.Glu1605_Phe1606del inframe deletion NM_001407933.1:c.4814_4819del NP_001394862.1:p.Glu1605_Phe1606del inframe deletion NM_001407934.1:c.4811_4816del NP_001394863.1:p.Glu1604_Phe1605del inframe deletion NM_001407935.1:c.4811_4816del NP_001394864.1:p.Glu1604_Phe1605del inframe deletion NM_001407936.1:c.4811_4816del NP_001394865.1:p.Glu1604_Phe1605del inframe deletion NM_001407937.1:c.4958_4963del NP_001394866.1:p.Glu1653_Phe1654del inframe deletion NM_001407938.1:c.4958_4963del NP_001394867.1:p.Glu1653_Phe1654del inframe deletion NM_001407939.1:c.4955_4960del NP_001394868.1:p.Glu1652_Phe1653del inframe deletion NM_001407940.1:c.4955_4960del NP_001394869.1:p.Glu1652_Phe1653del inframe deletion NM_001407941.1:c.4952_4957del NP_001394870.1:p.Glu1651_Phe1652del inframe deletion NM_001407942.1:c.4940_4945del NP_001394871.1:p.Glu1647_Phe1648del inframe deletion NM_001407943.1:c.4937_4942del NP_001394872.1:p.Glu1646_Phe1647del inframe deletion NM_001407944.1:c.4937_4942del NP_001394873.1:p.Glu1646_Phe1647del inframe deletion NM_001407945.1:c.4937_4942del NP_001394874.1:p.Glu1646_Phe1647del inframe deletion NM_001407946.1:c.4748_4753del NP_001394875.1:p.Glu1583_Phe1584del inframe deletion NM_001407947.1:c.4748_4753del NP_001394876.1:p.Glu1583_Phe1584del inframe deletion NM_001407948.1:c.4748_4753del NP_001394877.1:p.Glu1583_Phe1584del inframe deletion NM_001407949.1:c.4748_4753del NP_001394878.1:p.Glu1583_Phe1584del inframe deletion NM_001407950.1:c.4745_4750del NP_001394879.1:p.Glu1582_Phe1583del inframe deletion NM_001407951.1:c.4745_4750del NP_001394880.1:p.Glu1582_Phe1583del inframe deletion NM_001407952.1:c.4745_4750del NP_001394881.1:p.Glu1582_Phe1583del inframe deletion NM_001407953.1:c.4745_4750del NP_001394882.1:p.Glu1582_Phe1583del inframe deletion NM_001407954.1:c.4745_4750del NP_001394883.1:p.Glu1582_Phe1583del inframe deletion NM_001407955.1:c.4745_4750del NP_001394884.1:p.Glu1582_Phe1583del inframe deletion NM_001407956.1:c.4742_4747del NP_001394885.1:p.Glu1581_Phe1582del inframe deletion NM_001407957.1:c.4742_4747del NP_001394886.1:p.Glu1581_Phe1582del inframe deletion NM_001407958.1:c.4742_4747del NP_001394887.1:p.Glu1581_Phe1582del inframe deletion NM_001407959.1:c.4700_4705del NP_001394888.1:p.Glu1567_Phe1568del inframe deletion NM_001407960.1:c.4697_4702del NP_001394889.1:p.Glu1566_Phe1567del inframe deletion NM_001407962.1:c.4697_4702del NP_001394891.1:p.Glu1566_Phe1567del inframe deletion NM_001407963.1:c.4694_4699del NP_001394892.1:p.Glu1565_Phe1566del inframe deletion NM_001407964.1:c.4619_4624del NP_001394893.1:p.Glu1540_Phe1541del inframe deletion NM_001407965.1:c.4574_4579del NP_001394894.1:p.Glu1525_Phe1526del inframe deletion NM_001407966.1:c.4193_4198del NP_001394895.1:p.Glu1398_Phe1399del inframe deletion NM_001407967.1:c.4190_4195del NP_001394896.1:p.Glu1397_Phe1398del inframe deletion NM_001407968.1:c.2477_2482del NP_001394897.1:p.Glu826_Phe827del inframe deletion NM_001407969.1:c.2474_2479del NP_001394898.1:p.Glu825_Phe826del inframe deletion NM_001407970.1:c.1838_1843del NP_001394899.1:p.Glu613_Phe614del inframe deletion NM_001407971.1:c.1838_1843del NP_001394900.1:p.Glu613_Phe614del inframe deletion NM_001407972.1:c.1835_1840del NP_001394901.1:p.Glu612_Phe613del inframe deletion NM_001407973.1:c.1772_1777del NP_001394902.1:p.Glu591_Phe592del inframe deletion NM_001407974.1:c.1772_1777del NP_001394903.1:p.Glu591_Phe592del inframe deletion NM_001407975.1:c.1772_1777del NP_001394904.1:p.Glu591_Phe592del inframe deletion NM_001407976.1:c.1772_1777del NP_001394905.1:p.Glu591_Phe592del inframe deletion NM_001407977.1:c.1772_1777del NP_001394906.1:p.Glu591_Phe592del inframe deletion NM_001407978.1:c.1772_1777del NP_001394907.1:p.Glu591_Phe592del inframe deletion NM_001407979.1:c.1769_1774del NP_001394908.1:p.Glu590_Phe591del inframe deletion NM_001407980.1:c.1769_1774del NP_001394909.1:p.Glu590_Phe591del inframe deletion NM_001407981.1:c.1769_1774del NP_001394910.1:p.Glu590_Phe591del inframe deletion NM_001407982.1:c.1769_1774del NP_001394911.1:p.Glu590_Phe591del inframe deletion NM_001407983.1:c.1769_1774del NP_001394912.1:p.Glu590_Phe591del inframe deletion NM_001407984.1:c.1769_1774del NP_001394913.1:p.Glu590_Phe591del inframe deletion NM_001407985.1:c.1769_1774del NP_001394914.1:p.Glu590_Phe591del inframe deletion NM_001407986.1:c.1769_1774del NP_001394915.1:p.Glu590_Phe591del inframe deletion NM_001407990.1:c.1769_1774del NP_001394919.1:p.Glu590_Phe591del inframe deletion NM_001407991.1:c.1769_1774del NP_001394920.1:p.Glu590_Phe591del inframe deletion NM_001407992.1:c.1769_1774del NP_001394921.1:p.Glu590_Phe591del inframe deletion NM_001407993.1:c.1769_1774del NP_001394922.1:p.Glu590_Phe591del inframe deletion NM_001408392.1:c.1766_1771del NP_001395321.1:p.Glu589_Phe590del inframe deletion NM_001408396.1:c.1766_1771del NP_001395325.1:p.Glu589_Phe590del inframe deletion NM_001408397.1:c.1766_1771del NP_001395326.1:p.Glu589_Phe590del inframe deletion NM_001408398.1:c.1766_1771del NP_001395327.1:p.Glu589_Phe590del inframe deletion NM_001408399.1:c.1766_1771del NP_001395328.1:p.Glu589_Phe590del inframe deletion NM_001408400.1:c.1766_1771del NP_001395329.1:p.Glu589_Phe590del inframe deletion NM_001408401.1:c.1766_1771del NP_001395330.1:p.Glu589_Phe590del inframe deletion NM_001408402.1:c.1766_1771del NP_001395331.1:p.Glu589_Phe590del inframe deletion NM_001408403.1:c.1766_1771del NP_001395332.1:p.Glu589_Phe590del inframe deletion NM_001408404.1:c.1766_1771del NP_001395333.1:p.Glu589_Phe590del inframe deletion NM_001408406.1:c.1763_1768del NP_001395335.1:p.Glu588_Phe589del inframe deletion NM_001408407.1:c.1763_1768del NP_001395336.1:p.Glu588_Phe589del inframe deletion NM_001408408.1:c.1763_1768del NP_001395337.1:p.Glu588_Phe589del inframe deletion NM_001408409.1:c.1760_1765del NP_001395338.1:p.Glu587_Phe588del inframe deletion NM_001408410.1:c.1697_1702del NP_001395339.1:p.Glu566_Phe567del inframe deletion NM_001408411.1:c.1694_1699del NP_001395340.1:p.Glu565_Phe566del inframe deletion NM_001408412.1:c.1691_1696del NP_001395341.1:p.Glu564_Phe565del inframe deletion NM_001408413.1:c.1691_1696del NP_001395342.1:p.Glu564_Phe565del inframe deletion NM_001408414.1:c.1691_1696del NP_001395343.1:p.Glu564_Phe565del inframe deletion NM_001408415.1:c.1691_1696del NP_001395344.1:p.Glu564_Phe565del inframe deletion NM_001408416.1:c.1691_1696del NP_001395345.1:p.Glu564_Phe565del inframe deletion NM_001408418.1:c.1655_1660del NP_001395347.1:p.Glu552_Phe553del inframe deletion NM_001408419.1:c.1655_1660del NP_001395348.1:p.Glu552_Phe553del inframe deletion NM_001408420.1:c.1655_1660del NP_001395349.1:p.Glu552_Phe553del inframe deletion NM_001408421.1:c.1652_1657del NP_001395350.1:p.Glu551_Phe552del inframe deletion NM_001408422.1:c.1652_1657del NP_001395351.1:p.Glu551_Phe552del inframe deletion NM_001408423.1:c.1652_1657del NP_001395352.1:p.Glu551_Phe552del inframe deletion NM_001408424.1:c.1652_1657del NP_001395353.1:p.Glu551_Phe552del inframe deletion NM_001408425.1:c.1649_1654del NP_001395354.1:p.Glu550_Phe551del inframe deletion NM_001408426.1:c.1649_1654del NP_001395355.1:p.Glu550_Phe551del inframe deletion NM_001408427.1:c.1649_1654del NP_001395356.1:p.Glu550_Phe551del inframe deletion NM_001408428.1:c.1649_1654del NP_001395357.1:p.Glu550_Phe551del inframe deletion NM_001408429.1:c.1649_1654del NP_001395358.1:p.Glu550_Phe551del inframe deletion NM_001408430.1:c.1649_1654del NP_001395359.1:p.Glu550_Phe551del inframe deletion NM_001408431.1:c.1649_1654del NP_001395360.1:p.Glu550_Phe551del inframe deletion NM_001408432.1:c.1646_1651del NP_001395361.1:p.Glu549_Phe550del inframe deletion NM_001408433.1:c.1646_1651del NP_001395362.1:p.Glu549_Phe550del inframe deletion NM_001408434.1:c.1646_1651del NP_001395363.1:p.Glu549_Phe550del inframe deletion NM_001408435.1:c.1646_1651del NP_001395364.1:p.Glu549_Phe550del inframe deletion NM_001408436.1:c.1646_1651del NP_001395365.1:p.Glu549_Phe550del inframe deletion NM_001408437.1:c.1646_1651del NP_001395366.1:p.Glu549_Phe550del inframe deletion NM_001408438.1:c.1646_1651del NP_001395367.1:p.Glu549_Phe550del inframe deletion NM_001408439.1:c.1646_1651del NP_001395368.1:p.Glu549_Phe550del inframe deletion NM_001408440.1:c.1646_1651del NP_001395369.1:p.Glu549_Phe550del inframe deletion NM_001408441.1:c.1646_1651del NP_001395370.1:p.Glu549_Phe550del inframe deletion NM_001408442.1:c.1646_1651del NP_001395371.1:p.Glu549_Phe550del inframe deletion NM_001408443.1:c.1646_1651del NP_001395372.1:p.Glu549_Phe550del inframe deletion NM_001408444.1:c.1646_1651del NP_001395373.1:p.Glu549_Phe550del inframe deletion NM_001408445.1:c.1643_1648del NP_001395374.1:p.Glu548_Phe549del inframe deletion NM_001408446.1:c.1643_1648del NP_001395375.1:p.Glu548_Phe549del inframe deletion NM_001408447.1:c.1643_1648del NP_001395376.1:p.Glu548_Phe549del inframe deletion NM_001408448.1:c.1643_1648del NP_001395377.1:p.Glu548_Phe549del inframe deletion NM_001408450.1:c.1643_1648del NP_001395379.1:p.Glu548_Phe549del inframe deletion NM_001408451.1:c.1637_1642del NP_001395380.1:p.Glu546_Phe547del inframe deletion NM_001408452.1:c.1631_1636del NP_001395381.1:p.Glu544_Phe545del inframe deletion NM_001408453.1:c.1631_1636del NP_001395382.1:p.Glu544_Phe545del inframe deletion NM_001408454.1:c.1631_1636del NP_001395383.1:p.Glu544_Phe545del inframe deletion NM_001408455.1:c.1631_1636del NP_001395384.1:p.Glu544_Phe545del inframe deletion NM_001408456.1:c.1631_1636del NP_001395385.1:p.Glu544_Phe545del inframe deletion NM_001408457.1:c.1631_1636del NP_001395386.1:p.Glu544_Phe545del inframe deletion NM_001408458.1:c.1628_1633del NP_001395387.1:p.Glu543_Phe544del inframe deletion NM_001408459.1:c.1628_1633del NP_001395388.1:p.Glu543_Phe544del inframe deletion NM_001408460.1:c.1628_1633del NP_001395389.1:p.Glu543_Phe544del inframe deletion NM_001408461.1:c.1628_1633del NP_001395390.1:p.Glu543_Phe544del inframe deletion NM_001408462.1:c.1628_1633del NP_001395391.1:p.Glu543_Phe544del inframe deletion NM_001408463.1:c.1628_1633del NP_001395392.1:p.Glu543_Phe544del inframe deletion NM_001408464.1:c.1628_1633del NP_001395393.1:p.Glu543_Phe544del inframe deletion NM_001408465.1:c.1628_1633del NP_001395394.1:p.Glu543_Phe544del inframe deletion NM_001408466.1:c.1628_1633del NP_001395395.1:p.Glu543_Phe544del inframe deletion NM_001408467.1:c.1628_1633del NP_001395396.1:p.Glu543_Phe544del inframe deletion NM_001408468.1:c.1625_1630del NP_001395397.1:p.Glu542_Phe543del inframe deletion NM_001408469.1:c.1625_1630del NP_001395398.1:p.Glu542_Phe543del inframe deletion NM_001408470.1:c.1625_1630del NP_001395399.1:p.Glu542_Phe543del inframe deletion NM_001408472.1:c.1769_1774del NP_001395401.1:p.Glu590_Phe591del inframe deletion NM_001408473.1:c.1766_1771del NP_001395402.1:p.Glu589_Phe590del inframe deletion NM_001408474.1:c.1571_1576del NP_001395403.1:p.Glu524_Phe525del inframe deletion NM_001408475.1:c.1568_1573del NP_001395404.1:p.Glu523_Phe524del inframe deletion NM_001408476.1:c.1568_1573del NP_001395405.1:p.Glu523_Phe524del inframe deletion NM_001408478.1:c.1562_1567del NP_001395407.1:p.Glu521_Phe522del inframe deletion NM_001408479.1:c.1562_1567del NP_001395408.1:p.Glu521_Phe522del inframe deletion NM_001408480.1:c.1562_1567del NP_001395409.1:p.Glu521_Phe522del inframe deletion NM_001408481.1:c.1559_1564del NP_001395410.1:p.Glu520_Phe521del inframe deletion NM_001408482.1:c.1559_1564del NP_001395411.1:p.Glu520_Phe521del inframe deletion NM_001408483.1:c.1559_1564del NP_001395412.1:p.Glu520_Phe521del inframe deletion NM_001408484.1:c.1559_1564del NP_001395413.1:p.Glu520_Phe521del inframe deletion NM_001408485.1:c.1559_1564del NP_001395414.1:p.Glu520_Phe521del inframe deletion NM_001408489.1:c.1559_1564del NP_001395418.1:p.Glu520_Phe521del inframe deletion NM_001408490.1:c.1559_1564del NP_001395419.1:p.Glu520_Phe521del inframe deletion NM_001408491.1:c.1559_1564del NP_001395420.1:p.Glu520_Phe521del inframe deletion NM_001408492.1:c.1556_1561del NP_001395421.1:p.Glu519_Phe520del inframe deletion NM_001408493.1:c.1556_1561del NP_001395422.1:p.Glu519_Phe520del inframe deletion NM_001408494.1:c.1532_1537del NP_001395423.1:p.Glu511_Phe512del inframe deletion NM_001408495.1:c.1526_1531del NP_001395424.1:p.Glu509_Phe510del inframe deletion NM_001408496.1:c.1508_1513del NP_001395425.1:p.Glu503_Phe504del inframe deletion NM_001408497.1:c.1508_1513del NP_001395426.1:p.Glu503_Phe504del inframe deletion NM_001408498.1:c.1508_1513del NP_001395427.1:p.Glu503_Phe504del inframe deletion NM_001408499.1:c.1508_1513del NP_001395428.1:p.Glu503_Phe504del inframe deletion NM_001408500.1:c.1508_1513del NP_001395429.1:p.Glu503_Phe504del inframe deletion NM_001408501.1:c.1508_1513del NP_001395430.1:p.Glu503_Phe504del inframe deletion NM_001408502.1:c.1505_1510del NP_001395431.1:p.Glu502_Phe503del inframe deletion NM_001408503.1:c.1505_1510del NP_001395432.1:p.Glu502_Phe503del inframe deletion NM_001408504.1:c.1505_1510del NP_001395433.1:p.Glu502_Phe503del inframe deletion NM_001408505.1:c.1502_1507del NP_001395434.1:p.Glu501_Phe502del inframe deletion NM_001408506.1:c.1445_1450del NP_001395435.1:p.Glu482_Phe483del inframe deletion NM_001408507.1:c.1442_1447del NP_001395436.1:p.Glu481_Phe482del inframe deletion NM_001408508.1:c.1433_1438del NP_001395437.1:p.Glu478_Phe479del inframe deletion NM_001408509.1:c.1430_1435del NP_001395438.1:p.Glu477_Phe478del inframe deletion NM_001408510.1:c.1391_1396del NP_001395439.1:p.Glu464_Phe465del inframe deletion NM_001408511.1:c.1388_1393del NP_001395440.1:p.Glu463_Phe464del inframe deletion NM_001408512.1:c.1268_1273del NP_001395441.1:p.Glu423_Phe424del inframe deletion NM_001408513.1:c.1241_1246del NP_001395442.1:p.Glu414_Phe415del inframe deletion NM_001408514.1:c.845_850del NP_001395443.1:p.Glu282_Phe283del inframe deletion NM_007297.4:c.4940_4945del NP_009228.2:p.Glu1647_Phe1648del inframe deletion NM_007298.4:c.1769_1774del NP_009229.2:p.Glu590_Phe591del inframe deletion NM_007299.4:c.1769_1774del NP_009230.2:p.Glu590_Phe591del inframe deletion NM_007300.4:c.5144_5149del NP_009231.2:p.Glu1715_Phe1716del inframe deletion NM_007304.2:c.1767_1772delTGAGTT NP_009235.2:p.Glu590_Phe591del inframe indel NR_027676.2:n.5256_5261delTGAGTT NC_000017.11:g.43063942_43063947del NC_000017.10:g.41215959_41215964del NG_005905.2:g.154039_154044del LRG_292:g.154039_154044del LRG_292t1:c.5079_5084del LRG_292p1:p.Glu1694_Phe1695del - Protein change
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- Other names
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- Canonical SPDI
- NC_000017.11:43063939:CAAACTCA:CA
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| 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
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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
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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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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| Uncertain significance (1) |
criteria provided, single submitter
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Jan 9, 2024 | RCV003484246.1 |
Submissions - Germline
| Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
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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
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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
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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
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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|---|---|---|---|---|---|
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Uncertain significance
(Jan 09, 2024)
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criteria provided, single submitter
Method: curation
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Hereditary breast ovarian cancer syndrome
Affected status: not provided
Allele origin:
germline
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German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
Accession: SCV004231855.1
First in ClinVar: Jan 26, 2024 Last updated: Jan 26, 2024 |
Comment:
. According to the ClinGen ENIGMA BRCA1 v1.0.0 criteria we chose this criterium: PM2 (supporting pathogenic): not in gnomAD
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Comment:
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
. According to the ClinGen ENIGMA BRCA1 v1.0.0 criteria we chose this criterium: PM2 (supporting pathogenic): not in gnomAD
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated 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.