Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Indel | NM_000059.3(BRCA2):c.3683delinsGG (p.Asn1228fs) | BRCA2 | Pathogenic | 13 | 32912175 | 32912175 | A | GG | reviewed by expert panel | ClinGen:CA645372958 |
Duplication | NM_000059.4(BRCA2):c.7580dup (p.Gly2528fs) | BRCA2 | Pathogenic | 13 | 32930708 | 32930709 | G | GT | reviewed by expert panel | ClinGen:CA645372940 |
Duplication | NM_000059.4(BRCA2):c.9014_9017dup (p.Tyr3006Ter) | BRCA2 | Pathogenic | 13 | 32953945 | 32953946 | G | GAGAT | reviewed by expert panel | ClinGen:CA645372936 |
Duplication | NM_000059.4(BRCA2):c.9103dup (p.Tyr3035fs) | BRCA2 | Pathogenic | 13 | 32954035 | 32954036 | G | GT | reviewed by expert panel | ClinGen:CA645372938 |
single nucleotide variant | NM_000059.4(BRCA2):c.9373C>T (p.Leu3125Phe) | BRCA2 | Likely pathogenic | 13 | 32968942 | 32968942 | C | T | criteria provided, single submitter | ClinGen:CA387761221 |
Duplication | NM_007294.3(BRCA1):c.548-?_593+?dup | BRCA1 | Pathogenic | 17 | 41249261 | 41249306 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_007294.4(BRCA1):c.5557T>A (p.Tyr1853Asn) | BRCA1 | Likely pathogenic | 17 | 41197730 | 41197730 | A | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_007294.4(BRCA1):c.5427dup (p.Val1810fs) | BRCA1 | Pathogenic | 17 | 41199699 | 41199700 | C | CA | reviewed by expert panel | ClinGen:CA645373165 |
single nucleotide variant | NM_007294.4(BRCA1):c.5380G>T (p.Glu1794Ter) | BRCA1 | Pathogenic | 17 | 41201164 | 41201164 | C | A | reviewed by expert panel | ClinGen:CA10590712 |
single nucleotide variant | NM_007294.4(BRCA1):c.5251C>G (p.Arg1751Gly) | BRCA1 | Likely pathogenic | 17 | 41209095 | 41209095 | G | C | criteria provided, single submitter | ClinGen:CA10591045 |