single nucleotide variant | NM_007294.4(BRCA1):c.5215G>T (p.Asp1739Tyr) | BRCA1 | Likely pathogenic | 17 | 41209131 | 41209131 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA003366 |
single nucleotide variant | NM_007294.4(BRCA1):c.5194-2A>C | BRCA1 | Likely pathogenic | 17 | 41209154 | 41209154 | T | G | criteria provided, single submitter | ClinGen:CA003346 |
single nucleotide variant | NM_007294.4(BRCA1):c.5152+4A>G | BRCA1 | Likely pathogenic | 17 | 41215887 | 41215887 | T | C | criteria provided, single submitter | ClinGen:CA003287 |
single nucleotide variant | NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys) | BRCA1 | Likely pathogenic | 17 | 41215900 | 41215900 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA003265 |
single nucleotide variant | NM_007294.4(BRCA1):c.5096G>T (p.Arg1699Leu) | BRCA1 | Likely pathogenic | 17 | 41215947 | 41215947 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA003237 |
single nucleotide variant | NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg) | BRCA1 | Likely pathogenic | 17 | 41219627 | 41219627 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA003189 |
single nucleotide variant | NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr) | BRCA1 | Likely pathogenic | 17 | 41234546 | 41234546 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA002723,UniProtKB:P38398#VAR_020699 |
single nucleotide variant | NM_007294.4(BRCA1):c.139T>G (p.Cys47Gly) | BRCA1 | Likely pathogenic | 17 | 41258546 | 41258546 | A | C | criteria provided, single submitter | ClinGen:CA000943 |
single nucleotide variant | NM_000059.4(BRCA2):c.91T>C (p.Trp31Arg) | BRCA2 | Likely pathogenic | 13 | 32893237 | 32893237 | T | C | criteria provided, single submitter | ClinGen:CA026029 |
single nucleotide variant | NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser) | BRCA2 | Likely pathogenic | 13 | 32944570 | 32944570 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA025604 |