Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000059.4(BRCA2):c.8331+1G>T | BRCA2 | Likely pathogenic | 13 | 32937671 | 32937671 | G | T | criteria provided, single submitter | Breast Cancer Information Core (BIC) (BRCA2):8559+1&base_change=G to T,ClinGen:CA025579 |
single nucleotide variant | NM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val) | BRCA2 | Likely pathogenic | 13 | 32937510 | 32937510 | G | T | criteria provided, single submitter | ClinGen:CA025486 |
single nucleotide variant | NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp) | BRCA2 | Likely pathogenic | 13 | 32936680 | 32936680 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA025300 |
single nucleotide variant | NM_000059.4(BRCA2):c.7007+5G>C | BRCA2 | Likely pathogenic | 13 | 32921038 | 32921038 | G | C | criteria provided, single submitter | Breast Cancer Information Core (BIC) (BRCA2):7235+5&base_change=G to C,ClinGen:CA024710 |
single nucleotide variant | NM_000059.4(BRCA2):c.631+2T>C | BRCA2 | Likely pathogenic | 13 | 32900752 | 32900752 | T | C | criteria provided, single submitter | ClinGen:CA023850 |
single nucleotide variant | NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) | BRCA1 | Likely pathogenic | 17 | 41197766 | 41197766 | T | G | criteria provided, single submitter | ClinGen:CA003694 |
single nucleotide variant | NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr) | BRCA1 | Likely pathogenic | 17 | 41215953 | 41215953 | C | T | reviewed by expert panel | ClinGen:CA003230 |