single nucleotide variant | NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23646214 | 23646214 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA251717,OMIM:610355.0001 |
single nucleotide variant | NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23614792 | 23614792 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA151250,OMIM:610355.0003 |
single nucleotide variant | NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) | PALB2 | Pathogenic | 16 | 23634324 | 23634324 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA164468,OMIM:610355.0004 |
Deletion | NM_000059.4(BRCA2):c.7004_7007+2del | BRCA2 | Pathogenic | 13 | 32921029 | 32921034 | CTTTCGG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA325946,OMIM:600185.0001 |
Deletion | NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) | BRCA2 | Pathogenic | 13 | 32914767 | 32914768 | CTT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):6503&base_change=del TT,ClinGen:CA023808,OMIM:600185.0002 |
Deletion | NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs) | BRCA2 | Pathogenic | 13 | 32915083 | 32915084 | CTG | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):6819&base_change=del TG,ClinGen:CA024193,OMIM:600185.0003 |
Deletion | NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) | BRCA2 | Pathogenic | 13 | 32911298 | 32911301 | TAAAC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):3034&base_change=del AAAC,Breast Cancer Information Core (BIC) (BRCA2):3036&base_change=del ACAA,ClinGen:CA016424,OMIM:600185.0006,OMIM:600185.0016 |
Deletion | NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) | BRCA2 | Pathogenic | 13 | 32914438 | 32914438 | GT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):6174&base_change=del T,ClinGen:CA023403,OMIM:600185.0005,OMIM:600185.0009 |
Deletion | NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) | BRCA2 | Pathogenic | 13 | 32905141 | 32905145 | ACAAAT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):995&base_change=del CAAAT,Breast Cancer Information Core (BIC) (BRCA2):999&base_change=del TCAAA,ClinGen:CA025222,OMIM:600185.0010 |
single nucleotide variant | NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) | BRCA2 | Pathogenic | 13 | 32937504 | 32937504 | C | G | reviewed by expert panel | ClinGen:CA025480,OMIM:600185.0025 |