ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4661_4666del (p.Pro1554_Arg1555del)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4661_4666del (p.Pro1554_Arg1555del)
Variation ID: 2026947 Accession: VCV002026947.2
- Type and length
-
Deletion, 6 bp
- Location
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Cytogenetic: 17q21.31 17: 43074340-43074345 (GRCh38) [ NCBI UCSC ] 17: 41226357-41226362 (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 Feb 8, 2023 Feb 20, 2024 Aug 26, 2022 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.4661_4666del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Pro1554_Arg1555del inframe deletion NM_001407571.1:c.4446_4451delGCCAAG NP_001394500.1:p.Pro1483_Arg1484del inframe indel NM_001407581.1:c.4725_4730delGCCAAG NP_001394510.1:p.Pro1576_Arg1577del inframe indel NM_001407582.1:c.4725_4730delGCCAAG NP_001394511.1:p.Pro1576_Arg1577del inframe indel NM_001407583.1:c.4722_4727delGCCAAG NP_001394512.1:p.Pro1575_Arg1576del inframe indel NM_001407585.1:c.4722_4727delGCCAAG NP_001394514.1:p.Pro1575_Arg1576del inframe indel NM_001407587.1:c.4722_4727delGCCAAG NP_001394516.1:p.Pro1575_Arg1576del inframe indel NM_001407590.1:c.4719_4724delGCCAAG NP_001394519.1:p.Pro1574_Arg1575del inframe indel NM_001407591.1:c.4719_4724delGCCAAG NP_001394520.1:p.Pro1574_Arg1575del inframe indel NM_001407593.1:c.4659_4664delGCCAAG NP_001394522.1:p.Pro1554_Arg1555del inframe indel NM_001407594.1:c.4659_4664delGCCAAG NP_001394523.1:p.Pro1554_Arg1555del inframe indel NM_001407596.1:c.4659_4664delGCCAAG NP_001394525.1:p.Pro1554_Arg1555del inframe indel NM_001407597.1:c.4659_4664delGCCAAG NP_001394526.1:p.Pro1554_Arg1555del inframe indel NM_001407598.1:c.4659_4664delGCCAAG NP_001394527.1:p.Pro1554_Arg1555del inframe indel NM_001407602.1:c.4659_4664delGCCAAG NP_001394531.1:p.Pro1554_Arg1555del inframe indel NM_001407603.1:c.4659_4664delGCCAAG NP_001394532.1:p.Pro1554_Arg1555del inframe indel NM_001407605.1:c.4659_4664delGCCAAG NP_001394534.1:p.Pro1554_Arg1555del inframe indel NM_001407610.1:c.4656_4661delGCCAAG NP_001394539.1:p.Pro1553_Arg1554del inframe indel NM_001407611.1:c.4656_4661delGCCAAG NP_001394540.1:p.Pro1553_Arg1554del inframe indel NM_001407612.1:c.4656_4661delGCCAAG NP_001394541.1:p.Pro1553_Arg1554del inframe indel NM_001407613.1:c.4656_4661delGCCAAG NP_001394542.1:p.Pro1553_Arg1554del inframe indel NM_001407614.1:c.4656_4661delGCCAAG NP_001394543.1:p.Pro1553_Arg1554del inframe indel NM_001407615.1:c.4656_4661delGCCAAG NP_001394544.1:p.Pro1553_Arg1554del inframe indel NM_001407616.1:c.4656_4661delGCCAAG NP_001394545.1:p.Pro1553_Arg1554del inframe indel NM_001407617.1:c.4656_4661delGCCAAG NP_001394546.1:p.Pro1553_Arg1554del inframe indel NM_001407618.1:c.4656_4661delGCCAAG NP_001394547.1:p.Pro1553_Arg1554del inframe indel NM_001407619.1:c.4656_4661delGCCAAG NP_001394548.1:p.Pro1553_Arg1554del inframe indel NM_001407620.1:c.4656_4661delGCCAAG NP_001394549.1:p.Pro1553_Arg1554del inframe indel NM_001407621.1:c.4656_4661delGCCAAG NP_001394550.1:p.Pro1553_Arg1554del inframe indel NM_001407622.1:c.4656_4661delGCCAAG NP_001394551.1:p.Pro1553_Arg1554del inframe indel NM_001407623.1:c.4656_4661delGCCAAG NP_001394552.1:p.Pro1553_Arg1554del inframe indel NM_001407624.1:c.4656_4661delGCCAAG NP_001394553.1:p.Pro1553_Arg1554del inframe indel NM_001407625.1:c.4656_4661delGCCAAG NP_001394554.1:p.Pro1553_Arg1554del inframe indel NM_001407626.1:c.4656_4661delGCCAAG NP_001394555.1:p.Pro1553_Arg1554del inframe indel NM_001407627.1:c.4653_4658delGCCAAG NP_001394556.1:p.Pro1552_Arg1553del inframe indel NM_001407628.1:c.4653_4658delGCCAAG NP_001394557.1:p.Pro1552_Arg1553del inframe indel NM_001407629.1:c.4653_4658delGCCAAG NP_001394558.1:p.Pro1552_Arg1553del inframe indel NM_001407630.1:c.4653_4658delGCCAAG NP_001394559.1:p.Pro1552_Arg1553del inframe indel NM_001407631.1:c.4653_4658delGCCAAG NP_001394560.1:p.Pro1552_Arg1553del inframe indel NM_001407632.1:c.4653_4658delGCCAAG NP_001394561.1:p.Pro1552_Arg1553del inframe indel NM_001407633.1:c.4653_4658delGCCAAG NP_001394562.1:p.Pro1552_Arg1553del inframe indel NM_001407634.1:c.4653_4658delGCCAAG NP_001394563.1:p.Pro1552_Arg1553del inframe indel NM_001407635.1:c.4653_4658delGCCAAG NP_001394564.1:p.Pro1552_Arg1553del inframe indel NM_001407636.1:c.4653_4658delGCCAAG NP_001394565.1:p.Pro1552_Arg1553del inframe indel NM_001407637.1:c.4653_4658delGCCAAG NP_001394566.1:p.Pro1552_Arg1553del inframe indel NM_001407638.1:c.4653_4658delGCCAAG NP_001394567.1:p.Pro1552_Arg1553del inframe indel NM_001407639.1:c.4653_4658delGCCAAG NP_001394568.1:p.Pro1552_Arg1553del inframe indel NM_001407640.1:c.4653_4658delGCCAAG NP_001394569.1:p.Pro1552_Arg1553del inframe indel NM_001407641.1:c.4653_4658delGCCAAG NP_001394570.1:p.Pro1552_Arg1553del inframe indel NM_001407642.1:c.4653_4658delGCCAAG NP_001394571.1:p.Pro1552_Arg1553del inframe indel NM_001407644.1:c.4650_4655delGCCAAG NP_001394573.1:p.Pro1551_Arg1552del inframe indel NM_001407645.1:c.4650_4655delGCCAAG NP_001394574.1:p.Pro1551_Arg1552del inframe indel NM_001407646.1:c.4647_4652delGCCAAG NP_001394575.1:p.Pro1550_Arg1551del inframe indel NM_001407647.1:c.4644_4649delGCCAAG NP_001394576.1:p.Pro1549_Arg1550del inframe indel NM_001407648.1:c.4602_4607delGCCAAG NP_001394577.1:p.Pro1535_Arg1536del inframe indel NM_001407649.1:c.4599_4604delGCCAAG NP_001394578.1:p.Pro1534_Arg1535del inframe indel NM_001407652.1:c.4659_4664delGCCAAG NP_001394581.1:p.Pro1554_Arg1555del inframe indel NM_001407653.1:c.4581_4586delGCCAAG NP_001394582.1:p.Pro1528_Arg1529del inframe indel NM_001407654.1:c.4581_4586delGCCAAG NP_001394583.1:p.Pro1528_Arg1529del inframe indel NM_001407655.1:c.4581_4586delGCCAAG NP_001394584.1:p.Pro1528_Arg1529del inframe indel NM_001407656.1:c.4578_4583delGCCAAG NP_001394585.1:p.Pro1527_Arg1528del inframe indel NM_001407657.1:c.4578_4583delGCCAAG NP_001394586.1:p.Pro1527_Arg1528del inframe indel NM_001407658.1:c.4578_4583delGCCAAG NP_001394587.1:p.Pro1527_Arg1528del inframe indel NM_001407659.1:c.4575_4580delGCCAAG NP_001394588.1:p.Pro1526_Arg1527del inframe indel NM_001407660.1:c.4575_4580delGCCAAG NP_001394589.1:p.Pro1526_Arg1527del inframe indel NM_001407661.1:c.4575_4580delGCCAAG NP_001394590.1:p.Pro1526_Arg1527del inframe indel NM_001407662.1:c.4575_4580delGCCAAG NP_001394591.1:p.Pro1526_Arg1527del inframe indel NM_001407663.1:c.4575_4580delGCCAAG NP_001394592.1:p.Pro1526_Arg1527del inframe indel NM_001407664.1:c.4536_4541delGCCAAG NP_001394593.1:p.Pro1513_Arg1514del inframe indel NM_001407665.1:c.4536_4541delGCCAAG NP_001394594.1:p.Pro1513_Arg1514del inframe indel NM_001407666.1:c.4536_4541delGCCAAG NP_001394595.1:p.Pro1513_Arg1514del inframe indel NM_001407667.1:c.4536_4541delGCCAAG NP_001394596.1:p.Pro1513_Arg1514del inframe indel NM_001407668.1:c.4536_4541delGCCAAG NP_001394597.1:p.Pro1513_Arg1514del inframe indel NM_001407669.1:c.4536_4541delGCCAAG NP_001394598.1:p.Pro1513_Arg1514del inframe indel NM_001407670.1:c.4533_4538delGCCAAG NP_001394599.1:p.Pro1512_Arg1513del inframe indel NM_001407671.1:c.4533_4538delGCCAAG NP_001394600.1:p.Pro1512_Arg1513del inframe indel NM_001407672.1:c.4533_4538delGCCAAG NP_001394601.1:p.Pro1512_Arg1513del inframe indel NM_001407673.1:c.4533_4538delGCCAAG NP_001394602.1:p.Pro1512_Arg1513del inframe indel NM_001407674.1:c.4533_4538delGCCAAG NP_001394603.1:p.Pro1512_Arg1513del inframe indel NM_001407675.1:c.4533_4538delGCCAAG NP_001394604.1:p.Pro1512_Arg1513del inframe indel NM_001407676.1:c.4533_4538delGCCAAG NP_001394605.1:p.Pro1512_Arg1513del inframe indel NM_001407677.1:c.4533_4538delGCCAAG NP_001394606.1:p.Pro1512_Arg1513del inframe indel NM_001407678.1:c.4533_4538delGCCAAG NP_001394607.1:p.Pro1512_Arg1513del inframe indel NM_001407679.1:c.4533_4538delGCCAAG NP_001394608.1:p.Pro1512_Arg1513del inframe indel NM_001407680.1:c.4533_4538delGCCAAG NP_001394609.1:p.Pro1512_Arg1513del inframe indel NM_001407681.1:c.4530_4535delGCCAAG NP_001394610.1:p.Pro1511_Arg1512del inframe indel NM_001407682.1:c.4530_4535delGCCAAG NP_001394611.1:p.Pro1511_Arg1512del inframe indel NM_001407683.1:c.4530_4535delGCCAAG NP_001394612.1:p.Pro1511_Arg1512del inframe indel NM_001407684.1:c.4659_4664delGCCAAG NP_001394613.1:p.Pro1554_Arg1555del inframe indel NM_001407685.1:c.4530_4535delGCCAAG NP_001394614.1:p.Pro1511_Arg1512del inframe indel NM_001407686.1:c.4530_4535delGCCAAG NP_001394615.1:p.Pro1511_Arg1512del inframe indel NM_001407687.1:c.4530_4535delGCCAAG NP_001394616.1:p.Pro1511_Arg1512del inframe indel NM_001407688.1:c.4530_4535delGCCAAG NP_001394617.1:p.Pro1511_Arg1512del inframe indel NM_001407689.1:c.4530_4535delGCCAAG NP_001394618.1:p.Pro1511_Arg1512del inframe indel NM_001407690.1:c.4527_4532delGCCAAG NP_001394619.1:p.Pro1510_Arg1511del inframe indel NM_001407691.1:c.4527_4532delGCCAAG NP_001394620.1:p.Pro1510_Arg1511del inframe indel NM_001407692.1:c.4518_4523delGCCAAG NP_001394621.1:p.Pro1507_Arg1508del inframe indel NM_001407694.1:c.4518_4523delGCCAAG NP_001394623.1:p.Pro1507_Arg1508del inframe indel NM_001407695.1:c.4518_4523delGCCAAG NP_001394624.1:p.Pro1507_Arg1508del inframe indel NM_001407696.1:c.4518_4523delGCCAAG NP_001394625.1:p.Pro1507_Arg1508del inframe indel NM_001407697.1:c.4518_4523delGCCAAG NP_001394626.1:p.Pro1507_Arg1508del inframe indel NM_001407698.1:c.4518_4523delGCCAAG NP_001394627.1:p.Pro1507_Arg1508del inframe indel NM_001407724.1:c.4518_4523delGCCAAG NP_001394653.1:p.Pro1507_Arg1508del inframe indel NM_001407725.1:c.4518_4523delGCCAAG NP_001394654.1:p.Pro1507_Arg1508del inframe indel NM_001407726.1:c.4518_4523delGCCAAG NP_001394655.1:p.Pro1507_Arg1508del inframe indel NM_001407727.1:c.4518_4523delGCCAAG NP_001394656.1:p.Pro1507_Arg1508del inframe indel NM_001407728.1:c.4518_4523delGCCAAG NP_001394657.1:p.Pro1507_Arg1508del inframe indel NM_001407729.1:c.4518_4523delGCCAAG NP_001394658.1:p.Pro1507_Arg1508del inframe indel NM_001407730.1:c.4518_4523delGCCAAG NP_001394659.1:p.Pro1507_Arg1508del inframe indel NM_001407731.1:c.4518_4523delGCCAAG NP_001394660.1:p.Pro1507_Arg1508del inframe indel NM_001407732.1:c.4515_4520delGCCAAG NP_001394661.1:p.Pro1506_Arg1507del inframe indel NM_001407733.1:c.4515_4520delGCCAAG NP_001394662.1:p.Pro1506_Arg1507del inframe indel NM_001407734.1:c.4515_4520delGCCAAG NP_001394663.1:p.Pro1506_Arg1507del inframe indel NM_001407735.1:c.4515_4520delGCCAAG NP_001394664.1:p.Pro1506_Arg1507del inframe indel NM_001407736.1:c.4515_4520delGCCAAG NP_001394665.1:p.Pro1506_Arg1507del inframe indel NM_001407737.1:c.4515_4520delGCCAAG NP_001394666.1:p.Pro1506_Arg1507del inframe indel NM_001407738.1:c.4515_4520delGCCAAG NP_001394667.1:p.Pro1506_Arg1507del inframe indel NM_001407739.1:c.4515_4520delGCCAAG NP_001394668.1:p.Pro1506_Arg1507del inframe indel NM_001407740.1:c.4515_4520delGCCAAG NP_001394669.1:p.Pro1506_Arg1507del inframe indel NM_001407741.1:c.4515_4520delGCCAAG NP_001394670.1:p.Pro1506_Arg1507del inframe indel NM_001407742.1:c.4515_4520delGCCAAG NP_001394671.1:p.Pro1506_Arg1507del inframe indel NM_001407743.1:c.4515_4520delGCCAAG NP_001394672.1:p.Pro1506_Arg1507del inframe indel NM_001407744.1:c.4515_4520delGCCAAG NP_001394673.1:p.Pro1506_Arg1507del inframe indel NM_001407745.1:c.4515_4520delGCCAAG NP_001394674.1:p.Pro1506_Arg1507del inframe indel NM_001407746.1:c.4515_4520delGCCAAG NP_001394675.1:p.Pro1506_Arg1507del inframe indel NM_001407747.1:c.4515_4520delGCCAAG NP_001394676.1:p.Pro1506_Arg1507del inframe indel NM_001407748.1:c.4515_4520delGCCAAG NP_001394677.1:p.Pro1506_Arg1507del inframe indel NM_001407749.1:c.4515_4520delGCCAAG NP_001394678.1:p.Pro1506_Arg1507del inframe indel NM_001407750.1:c.4515_4520delGCCAAG NP_001394679.1:p.Pro1506_Arg1507del inframe indel NM_001407751.1:c.4515_4520delGCCAAG NP_001394680.1:p.Pro1506_Arg1507del inframe indel NM_001407752.1:c.4515_4520delGCCAAG NP_001394681.1:p.Pro1506_Arg1507del inframe indel NM_001407838.1:c.4512_4517delGCCAAG NP_001394767.1:p.Pro1505_Arg1506del inframe indel NM_001407839.1:c.4512_4517delGCCAAG NP_001394768.1:p.Pro1505_Arg1506del inframe indel NM_001407841.1:c.4512_4517delGCCAAG NP_001394770.1:p.Pro1505_Arg1506del inframe indel NM_001407842.1:c.4512_4517delGCCAAG NP_001394771.1:p.Pro1505_Arg1506del inframe indel NM_001407843.1:c.4512_4517delGCCAAG NP_001394772.1:p.Pro1505_Arg1506del inframe indel NM_001407844.1:c.4512_4517delGCCAAG NP_001394773.1:p.Pro1505_Arg1506del inframe indel NM_001407845.1:c.4512_4517delGCCAAG NP_001394774.1:p.Pro1505_Arg1506del inframe indel NM_001407846.1:c.4512_4517delGCCAAG NP_001394775.1:p.Pro1505_Arg1506del inframe indel NM_001407847.1:c.4512_4517delGCCAAG NP_001394776.1:p.Pro1505_Arg1506del inframe indel NM_001407848.1:c.4512_4517delGCCAAG NP_001394777.1:p.Pro1505_Arg1506del inframe indel NM_001407849.1:c.4512_4517delGCCAAG NP_001394778.1:p.Pro1505_Arg1506del inframe indel NM_001407850.1:c.4512_4517delGCCAAG NP_001394779.1:p.Pro1505_Arg1506del inframe indel NM_001407851.1:c.4512_4517delGCCAAG NP_001394780.1:p.Pro1505_Arg1506del inframe indel NM_001407852.1:c.4512_4517delGCCAAG NP_001394781.1:p.Pro1505_Arg1506del inframe indel NM_001407853.1:c.4512_4517delGCCAAG NP_001394782.1:p.Pro1505_Arg1506del inframe indel NM_001407854.1:c.4659_4664delGCCAAG NP_001394783.1:p.Pro1554_Arg1555del inframe indel NM_001407858.1:c.4656_4661delGCCAAG NP_001394787.1:p.Pro1553_Arg1554del inframe indel NM_001407859.1:c.4656_4661delGCCAAG NP_001394788.1:p.Pro1553_Arg1554del inframe indel NM_001407860.1:c.4656_4661delGCCAAG NP_001394789.1:p.Pro1553_Arg1554del inframe indel NM_001407861.1:c.4653_4658delGCCAAG NP_001394790.1:p.Pro1552_Arg1553del inframe indel NM_001407862.1:c.4458_4463delGCCAAG NP_001394791.1:p.Pro1487_Arg1488del inframe indel NM_001407863.1:c.4533_4538delGCCAAG NP_001394792.1:p.Pro1512_Arg1513del inframe indel NM_001407874.1:c.4452_4457delGCCAAG NP_001394803.1:p.Pro1485_Arg1486del inframe indel NM_001407875.1:c.4452_4457delGCCAAG NP_001394804.1:p.Pro1485_Arg1486del inframe indel NM_001407879.1:c.4449_4454delGCCAAG NP_001394808.1:p.Pro1484_Arg1485del inframe indel NM_001407881.1:c.4449_4454delGCCAAG NP_001394810.1:p.Pro1484_Arg1485del inframe indel NM_001407882.1:c.4449_4454delGCCAAG NP_001394811.1:p.Pro1484_Arg1485del inframe indel NM_001407884.1:c.4449_4454delGCCAAG NP_001394813.1:p.Pro1484_Arg1485del inframe indel NM_001407885.1:c.4449_4454delGCCAAG NP_001394814.1:p.Pro1484_Arg1485del inframe indel NM_001407886.1:c.4449_4454delGCCAAG NP_001394815.1:p.Pro1484_Arg1485del inframe indel NM_001407887.1:c.4449_4454delGCCAAG NP_001394816.1:p.Pro1484_Arg1485del inframe indel NM_001407889.1:c.4449_4454delGCCAAG NP_001394818.1:p.Pro1484_Arg1485del inframe indel NM_001407894.1:c.4446_4451delGCCAAG NP_001394823.1:p.Pro1483_Arg1484del inframe indel NM_001407895.1:c.4446_4451delGCCAAG NP_001394824.1:p.Pro1483_Arg1484del inframe indel NM_001407896.1:c.4446_4451delGCCAAG NP_001394825.1:p.Pro1483_Arg1484del inframe indel NM_001407897.1:c.4446_4451delGCCAAG NP_001394826.1:p.Pro1483_Arg1484del inframe indel NM_001407898.1:c.4446_4451delGCCAAG NP_001394827.1:p.Pro1483_Arg1484del inframe indel NM_001407899.1:c.4446_4451delGCCAAG NP_001394828.1:p.Pro1483_Arg1484del inframe indel NM_001407900.1:c.4446_4451delGCCAAG NP_001394829.1:p.Pro1483_Arg1484del inframe indel NM_001407902.1:c.4446_4451delGCCAAG NP_001394831.1:p.Pro1483_Arg1484del inframe indel NM_001407904.1:c.4446_4451delGCCAAG NP_001394833.1:p.Pro1483_Arg1484del inframe indel NM_001407906.1:c.4446_4451delGCCAAG NP_001394835.1:p.Pro1483_Arg1484del inframe indel NM_001407907.1:c.4446_4451delGCCAAG NP_001394836.1:p.Pro1483_Arg1484del inframe indel NM_001407908.1:c.4446_4451delGCCAAG NP_001394837.1:p.Pro1483_Arg1484del inframe indel NM_001407909.1:c.4446_4451delGCCAAG NP_001394838.1:p.Pro1483_Arg1484del inframe indel NM_001407910.1:c.4446_4451delGCCAAG NP_001394839.1:p.Pro1483_Arg1484del inframe indel NM_001407915.1:c.4443_4448delGCCAAG NP_001394844.1:p.Pro1482_Arg1483del inframe indel NM_001407916.1:c.4443_4448delGCCAAG NP_001394845.1:p.Pro1482_Arg1483del inframe indel NM_001407917.1:c.4443_4448delGCCAAG NP_001394846.1:p.Pro1482_Arg1483del inframe indel NM_001407918.1:c.4443_4448delGCCAAG NP_001394847.1:p.Pro1482_Arg1483del inframe indel NM_001407919.1:c.4536_4541delGCCAAG NP_001394848.1:p.Pro1513_Arg1514del inframe indel NM_001407920.1:c.4395_4400delGCCAAG NP_001394849.1:p.Pro1466_Arg1467del inframe indel NM_001407921.1:c.4395_4400delGCCAAG NP_001394850.1:p.Pro1466_Arg1467del inframe indel NM_001407922.1:c.4395_4400delGCCAAG NP_001394851.1:p.Pro1466_Arg1467del inframe indel NM_001407923.1:c.4395_4400delGCCAAG NP_001394852.1:p.Pro1466_Arg1467del inframe indel NM_001407924.1:c.4395_4400delGCCAAG NP_001394853.1:p.Pro1466_Arg1467del inframe indel NM_001407925.1:c.4395_4400delGCCAAG NP_001394854.1:p.Pro1466_Arg1467del inframe indel NM_001407926.1:c.4395_4400delGCCAAG NP_001394855.1:p.Pro1466_Arg1467del inframe indel NM_001407927.1:c.4392_4397delGCCAAG NP_001394856.1:p.Pro1465_Arg1466del inframe indel NM_001407928.1:c.4392_4397delGCCAAG NP_001394857.1:p.Pro1465_Arg1466del inframe indel NM_001407929.1:c.4392_4397delGCCAAG NP_001394858.1:p.Pro1465_Arg1466del inframe indel NM_001407930.1:c.4392_4397delGCCAAG NP_001394859.1:p.Pro1465_Arg1466del inframe indel NM_001407931.1:c.4392_4397delGCCAAG NP_001394860.1:p.Pro1465_Arg1466del inframe indel NM_001407932.1:c.4392_4397delGCCAAG NP_001394861.1:p.Pro1465_Arg1466del inframe indel NM_001407933.1:c.4392_4397delGCCAAG NP_001394862.1:p.Pro1465_Arg1466del inframe indel NM_001407934.1:c.4389_4394delGCCAAG NP_001394863.1:p.Pro1464_Arg1465del inframe indel NM_001407935.1:c.4389_4394delGCCAAG NP_001394864.1:p.Pro1464_Arg1465del inframe indel NM_001407936.1:c.4389_4394delGCCAAG NP_001394865.1:p.Pro1464_Arg1465del inframe indel NM_001407937.1:c.4536_4541delGCCAAG NP_001394866.1:p.Pro1513_Arg1514del inframe indel NM_001407938.1:c.4536_4541delGCCAAG NP_001394867.1:p.Pro1513_Arg1514del inframe indel NM_001407939.1:c.4533_4538delGCCAAG NP_001394868.1:p.Pro1512_Arg1513del inframe indel NM_001407940.1:c.4533_4538delGCCAAG NP_001394869.1:p.Pro1512_Arg1513del inframe indel NM_001407941.1:c.4530_4535delGCCAAG NP_001394870.1:p.Pro1511_Arg1512del inframe indel NM_001407942.1:c.4518_4523delGCCAAG NP_001394871.1:p.Pro1507_Arg1508del inframe indel NM_001407943.1:c.4515_4520delGCCAAG NP_001394872.1:p.Pro1506_Arg1507del inframe indel NM_001407944.1:c.4515_4520delGCCAAG NP_001394873.1:p.Pro1506_Arg1507del inframe indel NM_001407945.1:c.4515_4520delGCCAAG NP_001394874.1:p.Pro1506_Arg1507del inframe indel NM_001407946.1:c.4326_4331delGCCAAG NP_001394875.1:p.Pro1443_Arg1444del inframe indel NM_001407947.1:c.4326_4331delGCCAAG NP_001394876.1:p.Pro1443_Arg1444del inframe indel NM_001407948.1:c.4326_4331delGCCAAG NP_001394877.1:p.Pro1443_Arg1444del inframe indel NM_001407949.1:c.4326_4331delGCCAAG NP_001394878.1:p.Pro1443_Arg1444del inframe indel NM_001407950.1:c.4323_4328delGCCAAG NP_001394879.1:p.Pro1442_Arg1443del inframe indel NM_001407951.1:c.4323_4328delGCCAAG NP_001394880.1:p.Pro1442_Arg1443del inframe indel NM_001407952.1:c.4323_4328delGCCAAG NP_001394881.1:p.Pro1442_Arg1443del inframe indel NM_001407953.1:c.4323_4328delGCCAAG NP_001394882.1:p.Pro1442_Arg1443del inframe indel NM_001407954.1:c.4323_4328delGCCAAG NP_001394883.1:p.Pro1442_Arg1443del inframe indel NM_001407955.1:c.4323_4328delGCCAAG NP_001394884.1:p.Pro1442_Arg1443del inframe indel NM_001407956.1:c.4320_4325delGCCAAG NP_001394885.1:p.Pro1441_Arg1442del inframe indel NM_001407957.1:c.4320_4325delGCCAAG NP_001394886.1:p.Pro1441_Arg1442del inframe indel NM_001407958.1:c.4320_4325delGCCAAG NP_001394887.1:p.Pro1441_Arg1442del inframe indel NM_001407959.1:c.4278_4283delGCCAAG NP_001394888.1:p.Pro1427_Arg1428del inframe indel NM_001407960.1:c.4275_4280delGCCAAG NP_001394889.1:p.Pro1426_Arg1427del inframe indel NM_001407962.1:c.4275_4280delGCCAAG NP_001394891.1:p.Pro1426_Arg1427del inframe indel NM_001407963.1:c.4272_4277delGCCAAG NP_001394892.1:p.Pro1425_Arg1426del inframe indel NM_001407965.1:c.4152_4157delGCCAAG NP_001394894.1:p.Pro1385_Arg1386del inframe indel NM_001407966.1:c.3771_3776delGCCAAG NP_001394895.1:p.Pro1258_Arg1259del inframe indel NM_001407967.1:c.3768_3773delGCCAAG NP_001394896.1:p.Pro1257_Arg1258del inframe indel NM_001407968.1:c.2055_2060delGCCAAG NP_001394897.1:p.Pro686_Arg687del inframe indel NM_001407969.1:c.2052_2057delGCCAAG NP_001394898.1:p.Pro685_Arg686del inframe indel NM_001407970.1:c.1416_1421delGCCAAG NP_001394899.1:p.Pro473_Arg474del inframe indel NM_001407971.1:c.1416_1421delGCCAAG NP_001394900.1:p.Pro473_Arg474del inframe indel NM_001407972.1:c.1413_1418delGCCAAG NP_001394901.1:p.Pro472_Arg473del inframe indel NM_001407973.1:c.1350_1355delGCCAAG NP_001394902.1:p.Pro451_Arg452del inframe indel NM_001407974.1:c.1350_1355delGCCAAG NP_001394903.1:p.Pro451_Arg452del inframe indel NM_001407975.1:c.1350_1355delGCCAAG NP_001394904.1:p.Pro451_Arg452del inframe indel NM_001407976.1:c.1350_1355delGCCAAG NP_001394905.1:p.Pro451_Arg452del inframe indel NM_001407977.1:c.1350_1355delGCCAAG NP_001394906.1:p.Pro451_Arg452del inframe indel NM_001407978.1:c.1350_1355delGCCAAG NP_001394907.1:p.Pro451_Arg452del inframe indel NM_001407979.1:c.1347_1352delGCCAAG NP_001394908.1:p.Pro450_Arg451del inframe indel NM_001407980.1:c.1347_1352delGCCAAG NP_001394909.1:p.Pro450_Arg451del inframe indel NM_001407981.1:c.1347_1352delGCCAAG NP_001394910.1:p.Pro450_Arg451del inframe indel NM_001407982.1:c.1347_1352delGCCAAG NP_001394911.1:p.Pro450_Arg451del inframe indel NM_001407983.1:c.1347_1352delGCCAAG NP_001394912.1:p.Pro450_Arg451del inframe indel NM_001407984.1:c.1347_1352delGCCAAG NP_001394913.1:p.Pro450_Arg451del inframe indel NM_001407985.1:c.1347_1352delGCCAAG NP_001394914.1:p.Pro450_Arg451del inframe indel NM_001407986.1:c.1347_1352delGCCAAG NP_001394915.1:p.Pro450_Arg451del inframe indel NM_001407990.1:c.1347_1352delGCCAAG NP_001394919.1:p.Pro450_Arg451del inframe indel NM_001407991.1:c.1347_1352delGCCAAG NP_001394920.1:p.Pro450_Arg451del inframe indel NM_001407992.1:c.1347_1352delGCCAAG NP_001394921.1:p.Pro450_Arg451del inframe indel NM_001407993.1:c.1347_1352delGCCAAG NP_001394922.1:p.Pro450_Arg451del inframe indel NM_001408392.1:c.1344_1349delGCCAAG NP_001395321.1:p.Pro449_Arg450del inframe indel NM_001408396.1:c.1344_1349delGCCAAG NP_001395325.1:p.Pro449_Arg450del inframe indel NM_001408397.1:c.1344_1349delGCCAAG NP_001395326.1:p.Pro449_Arg450del inframe indel NM_001408398.1:c.1344_1349delGCCAAG NP_001395327.1:p.Pro449_Arg450del inframe indel NM_001408399.1:c.1344_1349delGCCAAG NP_001395328.1:p.Pro449_Arg450del inframe indel NM_001408400.1:c.1344_1349delGCCAAG NP_001395329.1:p.Pro449_Arg450del inframe indel NM_001408401.1:c.1344_1349delGCCAAG NP_001395330.1:p.Pro449_Arg450del inframe indel NM_001408402.1:c.1344_1349delGCCAAG NP_001395331.1:p.Pro449_Arg450del inframe indel NM_001408403.1:c.1344_1349delGCCAAG NP_001395332.1:p.Pro449_Arg450del inframe indel NM_001408404.1:c.1344_1349delGCCAAG NP_001395333.1:p.Pro449_Arg450del inframe indel NM_001408406.1:c.1341_1346delGCCAAG NP_001395335.1:p.Pro448_Arg449del inframe indel NM_001408407.1:c.1341_1346delGCCAAG NP_001395336.1:p.Pro448_Arg449del inframe indel NM_001408408.1:c.1341_1346delGCCAAG NP_001395337.1:p.Pro448_Arg449del inframe indel NM_001408409.1:c.1338_1343delGCCAAG NP_001395338.1:p.Pro447_Arg448del inframe indel NM_001408410.1:c.1275_1280delGCCAAG NP_001395339.1:p.Pro426_Arg427del inframe indel NM_001408411.1:c.1272_1277delGCCAAG NP_001395340.1:p.Pro425_Arg426del inframe indel NM_001408412.1:c.1269_1274delGCCAAG NP_001395341.1:p.Pro424_Arg425del inframe indel NM_001408413.1:c.1269_1274delGCCAAG NP_001395342.1:p.Pro424_Arg425del inframe indel NM_001408414.1:c.1269_1274delGCCAAG NP_001395343.1:p.Pro424_Arg425del inframe indel NM_001408415.1:c.1269_1274delGCCAAG NP_001395344.1:p.Pro424_Arg425del inframe indel NM_001408416.1:c.1269_1274delGCCAAG NP_001395345.1:p.Pro424_Arg425del inframe indel NM_001408418.1:c.1233_1238delGCCAAG NP_001395347.1:p.Pro412_Arg413del inframe indel NM_001408419.1:c.1233_1238delGCCAAG NP_001395348.1:p.Pro412_Arg413del inframe indel NM_001408420.1:c.1233_1238delGCCAAG NP_001395349.1:p.Pro412_Arg413del inframe indel NM_001408421.1:c.1230_1235delGCCAAG NP_001395350.1:p.Pro411_Arg412del inframe indel NM_001408422.1:c.1230_1235delGCCAAG NP_001395351.1:p.Pro411_Arg412del inframe indel NM_001408423.1:c.1230_1235delGCCAAG NP_001395352.1:p.Pro411_Arg412del inframe indel NM_001408424.1:c.1230_1235delGCCAAG NP_001395353.1:p.Pro411_Arg412del inframe indel NM_001408425.1:c.1227_1232delGCCAAG NP_001395354.1:p.Pro410_Arg411del inframe indel NM_001408426.1:c.1227_1232delGCCAAG NP_001395355.1:p.Pro410_Arg411del inframe indel NM_001408427.1:c.1227_1232delGCCAAG NP_001395356.1:p.Pro410_Arg411del inframe indel NM_001408428.1:c.1227_1232delGCCAAG NP_001395357.1:p.Pro410_Arg411del inframe indel NM_001408429.1:c.1227_1232delGCCAAG NP_001395358.1:p.Pro410_Arg411del inframe indel NM_001408430.1:c.1227_1232delGCCAAG NP_001395359.1:p.Pro410_Arg411del inframe indel NM_001408431.1:c.1227_1232delGCCAAG NP_001395360.1:p.Pro410_Arg411del inframe indel NM_001408432.1:c.1224_1229delGCCAAG NP_001395361.1:p.Pro409_Arg410del inframe indel NM_001408433.1:c.1224_1229delGCCAAG NP_001395362.1:p.Pro409_Arg410del inframe indel NM_001408434.1:c.1224_1229delGCCAAG NP_001395363.1:p.Pro409_Arg410del inframe indel NM_001408435.1:c.1224_1229delGCCAAG NP_001395364.1:p.Pro409_Arg410del inframe indel NM_001408436.1:c.1224_1229delGCCAAG NP_001395365.1:p.Pro409_Arg410del inframe indel NM_001408437.1:c.1224_1229delGCCAAG NP_001395366.1:p.Pro409_Arg410del inframe indel NM_001408438.1:c.1224_1229delGCCAAG NP_001395367.1:p.Pro409_Arg410del inframe indel NM_001408439.1:c.1224_1229delGCCAAG NP_001395368.1:p.Pro409_Arg410del inframe indel NM_001408440.1:c.1224_1229delGCCAAG NP_001395369.1:p.Pro409_Arg410del inframe indel NM_001408441.1:c.1224_1229delGCCAAG NP_001395370.1:p.Pro409_Arg410del inframe indel NM_001408442.1:c.1224_1229delGCCAAG NP_001395371.1:p.Pro409_Arg410del inframe indel NM_001408443.1:c.1224_1229delGCCAAG NP_001395372.1:p.Pro409_Arg410del inframe indel NM_001408444.1:c.1224_1229delGCCAAG NP_001395373.1:p.Pro409_Arg410del inframe indel NM_001408445.1:c.1221_1226delGCCAAG NP_001395374.1:p.Pro408_Arg409del inframe indel NM_001408446.1:c.1221_1226delGCCAAG NP_001395375.1:p.Pro408_Arg409del inframe indel NM_001408447.1:c.1221_1226delGCCAAG NP_001395376.1:p.Pro408_Arg409del inframe indel NM_001408448.1:c.1221_1226delGCCAAG NP_001395377.1:p.Pro408_Arg409del inframe indel NM_001408450.1:c.1221_1226delGCCAAG NP_001395379.1:p.Pro408_Arg409del inframe indel NM_001408451.1:c.1215_1220delGCCAAG NP_001395380.1:p.Pro406_Arg407del inframe indel NM_001408452.1:c.1209_1214delGCCAAG NP_001395381.1:p.Pro404_Arg405del inframe indel NM_001408453.1:c.1209_1214delGCCAAG NP_001395382.1:p.Pro404_Arg405del inframe indel NM_001408454.1:c.1209_1214delGCCAAG NP_001395383.1:p.Pro404_Arg405del inframe indel NM_001408455.1:c.1209_1214delGCCAAG NP_001395384.1:p.Pro404_Arg405del inframe indel NM_001408456.1:c.1209_1214delGCCAAG NP_001395385.1:p.Pro404_Arg405del inframe indel NM_001408457.1:c.1209_1214delGCCAAG NP_001395386.1:p.Pro404_Arg405del inframe indel NM_001408458.1:c.1206_1211delGCCAAG NP_001395387.1:p.Pro403_Arg404del inframe indel NM_001408459.1:c.1206_1211delGCCAAG NP_001395388.1:p.Pro403_Arg404del inframe indel NM_001408460.1:c.1206_1211delGCCAAG NP_001395389.1:p.Pro403_Arg404del inframe indel NM_001408461.1:c.1206_1211delGCCAAG NP_001395390.1:p.Pro403_Arg404del inframe indel NM_001408462.1:c.1206_1211delGCCAAG NP_001395391.1:p.Pro403_Arg404del inframe indel NM_001408463.1:c.1206_1211delGCCAAG NP_001395392.1:p.Pro403_Arg404del inframe indel NM_001408464.1:c.1206_1211delGCCAAG NP_001395393.1:p.Pro403_Arg404del inframe indel NM_001408465.1:c.1206_1211delGCCAAG NP_001395394.1:p.Pro403_Arg404del inframe indel NM_001408466.1:c.1206_1211delGCCAAG NP_001395395.1:p.Pro403_Arg404del inframe indel NM_001408467.1:c.1206_1211delGCCAAG NP_001395396.1:p.Pro403_Arg404del inframe indel NM_001408468.1:c.1203_1208delGCCAAG NP_001395397.1:p.Pro402_Arg403del inframe indel NM_001408469.1:c.1203_1208delGCCAAG NP_001395398.1:p.Pro402_Arg403del inframe indel NM_001408470.1:c.1203_1208delGCCAAG NP_001395399.1:p.Pro402_Arg403del inframe indel NM_001408472.1:c.1347_1352delGCCAAG NP_001395401.1:p.Pro450_Arg451del inframe indel NM_001408473.1:c.1344_1349delGCCAAG NP_001395402.1:p.Pro449_Arg450del inframe indel NM_001408474.1:c.1149_1154delGCCAAG NP_001395403.1:p.Pro384_Arg385del inframe indel NM_001408475.1:c.1146_1151delGCCAAG NP_001395404.1:p.Pro383_Arg384del inframe indel NM_001408476.1:c.1146_1151delGCCAAG NP_001395405.1:p.Pro383_Arg384del inframe indel NM_001408478.1:c.1140_1145delGCCAAG NP_001395407.1:p.Pro381_Arg382del inframe indel NM_001408479.1:c.1140_1145delGCCAAG NP_001395408.1:p.Pro381_Arg382del inframe indel NM_001408480.1:c.1140_1145delGCCAAG NP_001395409.1:p.Pro381_Arg382del inframe indel NM_001408481.1:c.1137_1142delGCCAAG NP_001395410.1:p.Pro380_Arg381del inframe indel NM_001408482.1:c.1137_1142delGCCAAG NP_001395411.1:p.Pro380_Arg381del inframe indel NM_001408483.1:c.1137_1142delGCCAAG NP_001395412.1:p.Pro380_Arg381del inframe indel NM_001408484.1:c.1137_1142delGCCAAG NP_001395413.1:p.Pro380_Arg381del inframe indel NM_001408485.1:c.1137_1142delGCCAAG NP_001395414.1:p.Pro380_Arg381del inframe indel NM_001408489.1:c.1137_1142delGCCAAG NP_001395418.1:p.Pro380_Arg381del inframe indel NM_001408490.1:c.1137_1142delGCCAAG NP_001395419.1:p.Pro380_Arg381del inframe indel NM_001408491.1:c.1137_1142delGCCAAG NP_001395420.1:p.Pro380_Arg381del inframe indel NM_001408492.1:c.1134_1139delGCCAAG NP_001395421.1:p.Pro379_Arg380del inframe indel NM_001408493.1:c.1134_1139delGCCAAG NP_001395422.1:p.Pro379_Arg380del inframe indel NM_001408494.1:c.1110_1115delGCCAAG NP_001395423.1:p.Pro371_Arg372del inframe indel NM_001408495.1:c.1104_1109delGCCAAG NP_001395424.1:p.Pro369_Arg370del inframe indel NM_001408496.1:c.1086_1091delGCCAAG NP_001395425.1:p.Pro363_Arg364del inframe indel NM_001408497.1:c.1086_1091delGCCAAG NP_001395426.1:p.Pro363_Arg364del inframe indel NM_001408498.1:c.1086_1091delGCCAAG NP_001395427.1:p.Pro363_Arg364del inframe indel NM_001408499.1:c.1086_1091delGCCAAG NP_001395428.1:p.Pro363_Arg364del inframe indel NM_001408500.1:c.1086_1091delGCCAAG NP_001395429.1:p.Pro363_Arg364del inframe indel NM_001408501.1:c.1086_1091delGCCAAG NP_001395430.1:p.Pro363_Arg364del inframe indel NM_001408502.1:c.1083_1088delGCCAAG NP_001395431.1:p.Pro362_Arg363del inframe indel NM_001408503.1:c.1083_1088delGCCAAG NP_001395432.1:p.Pro362_Arg363del inframe indel NM_001408504.1:c.1083_1088delGCCAAG NP_001395433.1:p.Pro362_Arg363del inframe indel NM_001408505.1:c.1080_1085delGCCAAG NP_001395434.1:p.Pro361_Arg362del inframe indel NM_001408506.1:c.1023_1028delGCCAAG NP_001395435.1:p.Pro342_Arg343del inframe indel NM_001408507.1:c.1020_1025delGCCAAG NP_001395436.1:p.Pro341_Arg342del inframe indel NM_001408508.1:c.1011_1016delGCCAAG NP_001395437.1:p.Pro338_Arg339del inframe indel NM_001408509.1:c.1008_1013delGCCAAG NP_001395438.1:p.Pro337_Arg338del inframe indel NM_001408510.1:c.969_974delGCCAAG NP_001395439.1:p.Pro324_Arg325del inframe indel NM_001408511.1:c.966_971delGCCAAG NP_001395440.1:p.Pro323_Arg324del inframe indel NM_001408512.1:c.846_851delGCCAAG NP_001395441.1:p.Pro283_Arg284del inframe indel NM_007297.4:c.4520_4525del NP_009228.2:p.Pro1507_Arg1508del inframe deletion NM_007298.4:c.1347_1352delGCCAAG NP_009229.2:p.Pro450_Arg451del inframe indel NM_007299.4:c.1349_1354del NP_009230.2:p.Pro450_Arg451del inframe deletion NM_007300.4:c.4724_4729del NP_009231.2:p.Pro1575_Arg1576del inframe deletion NM_007304.2:c.1347_1352delGCCAAG NP_009235.2:p.Pro450_Arg451del inframe indel NR_027676.2:n.4838_4843del non-coding transcript variant NC_000017.11:g.43074342_43074347del NC_000017.10:g.41226359_41226364del NG_005905.2:g.143639_143644del LRG_292:g.143639_143644del LRG_292t1:c.4659_4664del LRG_292p1:p.Pro1554_Arg1555del - Protein change
- Other names
- -
- Canonical SPDI
- NC_000017.11:43074339:GCCTTGGC:GC
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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 | ||
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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. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13016 | 14818 |
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. |
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Uncertain significance (1) |
criteria provided, single submitter
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Aug 26, 2022 | RCV002871618.2 |
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. |
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Uncertain significance
(Aug 26, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV003232291.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 20, 2024 |
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant … (more)
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.4661_4666del, results in the deletion of 2 amino acid(s) of the BRCA1 protein (p.Pro1554_Arg1555del), but otherwise preserves the integrity of the reading frame. (less)
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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
HelpThere 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.