Hereditary breast ovarian cancer syndrome
An Autosomal dominant mode(s) within the Cancer disorders category
Conflicting classifications of pathogenicity
8
Likely pathogenic
2
Pathogenic
3
Pathogenic/Likely pathogenic
5
Uncertain significance
4
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_007294.4(BRCA1):c.2295del (p.Ser766fs) | Deletion | Chr17:43093236 | Pathogenic/Likely pathogenic | Frameshift variant|intron variant | rs1567796243 | |
| NM_007294.4(BRCA1):c.3785_3787del (p.Ser1262del) | Deletion | Chr17:43091744 - 43091746 | Uncertain significance | Inframe_indel|inframe_deletion|intron variant | rs1555587043 | |
| NM_007294.4(BRCA1):c.1574T>C (p.Val525Ala) | Single nucleotide variant | Chr17:43093957 | Conflicting classifications of pathogenicity | Missense variant|intron variant | rs879253902 | |
| NM_007294.4(BRCA1):c.341C>G (p.Ser114Cys) | Single nucleotide variant | Chr17:43104222 | Uncertain significance | Missense variant|non-coding transcript variant | rs786202620 | |
| NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del) | Deletion | Chr17:43092202 - 43092204 | Conflicting classifications of pathogenicity | Inframe_indel|inframe_deletion|intron variant | rs80357575 | |
| NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) | Single nucleotide variant | Chr17:43045712 | Pathogenic/Likely pathogenic | Missense variant|3 prime UTR variant|non-coding transcript variant | rs80357258 | |
| NM_007294.4(BRCA1):c.5215G>T (p.Asp1739Tyr) | Single nucleotide variant | Chr17:43057114 | Likely pathogenic | Missense variant|non-coding transcript variant | rs80357283 |
.Molecular Endocrinology Laboratory, Christian Medical College |
| NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) | Deletion | Chr17:43092201 - 43092203 | Conflicting classifications of pathogenicity | Inframe_deletion|intron variant | rs80358335 |
.Molecular Endocrinology Laboratory, Christian Medical College |
| NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr) | Single nucleotide variant | Chr17:43106486 | Pathogenic | Missense variant|non-coding transcript variant | rs80357093 | |
| NM_007294.4(BRCA1):c.4484+1G>A | Single nucleotide variant | Chr17:43076487 | Pathogenic | Splice donor variant|intron variant | rs80358063 |
.Bioinformatics dept., Datar Cancer Genetics Limited, India |
| NM_000059.4(BRCA2):c.5420dup (p.Asp1807fs) | Duplication | Chr13:32339774 - 32339775 | Pathogenic | Frameshift variant|non-coding transcript variant|intron variant | rs2548530767 |
.Biotechnology, Institute of Science, Nirma University |
| NM_000059.4(BRCA2):c.4733T>G (p.Leu1578Ter) | Single nucleotide variant | Chr13:32339088 | Pathogenic/Likely pathogenic | Nonsense | rs2137509604 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000059.4(BRCA2):c.3350T>C (p.Ile1117Thr) | Single nucleotide variant | Chr13:32337705 | Conflicting classifications of pathogenicity | Missense variant | rs558973276 | |
| NM_000059.4(BRCA2):c.6952C>G (p.Arg2318Gly) | Single nucleotide variant | Chr13:32346841 | Uncertain significance | Missense variant | rs80358920 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000059.4(BRCA2):c.5683G>A (p.Glu1895Lys) | Single nucleotide variant | Chr13:32340038 | Conflicting classifications of pathogenicity | Missense variant | rs146351301 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000059.4(BRCA2):c.6112C>T (p.His2038Tyr) | Single nucleotide variant | Chr13:32340467 | Conflicting classifications of pathogenicity | Missense variant | rs587778123 | |
| NM_000059.4(BRCA2):c.-26G>T | Single nucleotide variant | Chr13:32316435 | Uncertain significance | 5 prime UTR variant | rs1799943 | |
| NM_000059.4(BRCA2):c.6152A>G (p.Asn2051Ser) | Single nucleotide variant | Chr13:32340507 | Conflicting classifications of pathogenicity | Missense variant | rs398122549 | |
| NM_000059.4(BRCA2):c.8954-3C>G | Single nucleotide variant | Chr13:32379747 | Likely pathogenic | Intron variant | rs81002844 |
.Biotechnology, Institute of Science, Nirma University |
| NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met) | Single nucleotide variant | Chr13:32398602 | Conflicting classifications of pathogenicity | Missense variant | rs80358390 |
.Molecular Diagnostics, Rajiv Gandhi Cancer Institute & Research Center |
| NM_000059.4(BRCA2):c.476-1G>A | Single nucleotide variant | Chr13:32326241 | Pathogenic/Likely pathogenic | Splice acceptor variant | rs397507340 |
.Biotechnology, Institute of Science, Nirma University |
| NM_058216.3(RAD51C):c.571+1del | Deletion | Chr17:58696858 | Pathogenic/Likely pathogenic | Splice donor variant | rs1327086366 |
.Lifecell International Pvt. Ltd |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution