Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_007294.4(BRCA1):c.1175_1218del (p.Leu392fs) | BRCA1 | Pathogenic | 17 | 41246330 | 41246373 | CATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA | C | reviewed by expert panel | ClinGen:CA000781 |
single nucleotide variant | NM_007294.4(BRCA1):c.134+5G>C | BRCA1 | Pathogenic | 17 | 41267738 | 41267738 | C | G | criteria provided, single submitter | ClinGen:CA000887 |
Insertion | NM_007294.4(BRCA1):c.1340_1341insG (p.His448fs) | BRCA1 | Pathogenic | 17 | 41246207 | 41246208 | A | AC | reviewed by expert panel | ClinGen:CA000877 |
single nucleotide variant | NM_007294.4(BRCA1):c.135-1G>T | BRCA1 | Pathogenic | 17 | 41258551 | 41258551 | C | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):254-1&base_change=G to T,ClinGen:CA000895 |
Indel | NM_007294.4(BRCA1):c.1389_1390delinsG (p.Thr464fs) | BRCA1 | Pathogenic | 17 | 41246158 | 41246159 | TT | C | reviewed by expert panel | ClinGen:CA000927,Breast Cancer Information Core (BIC) (BRCA1):1508&base_change=del AA ins G |
Deletion | NM_007294.4(BRCA1):c.143del (p.Met48fs) | BRCA1 | Pathogenic | 17 | 41258542 | 41258542 | CA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):262&base_change=del T,ClinGen:CA000963 |
Deletion | NM_007294.4(BRCA1):c.1444_1447del (p.Leu481_Ile482insTer) | BRCA1 | Pathogenic | 17 | 41246101 | 41246104 | ATAAT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1563&base_change=del ATTA,ClinGen:CA000965 |
single nucleotide variant | NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter) | BRCA1 | Pathogenic | 17 | 41246068 | 41246068 | G | A | reviewed by expert panel | ClinGen:CA000991 |
Deletion | NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) | BRCA1 | Pathogenic | 17 | 41246040 | 41246044 | CTTTAA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1623&base_change=del TTAAA,ClinGen:CA353757 |
Deletion | NM_007294.4(BRCA1):c.1510del (p.Arg504fs) | BRCA1 | Pathogenic | 17 | 41246038 | 41246038 | CG | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1629&base_change=del C,ClinGen:CA353756 |