Gene | Location | dbSNP Id | HGVS.c | HGVS.p | Consequence Type | Variation ID | Significance | No. of observations |
---|---|---|---|---|---|---|---|---|
BRCA1 | Intron 4 | rs80358163 | c.213-12 A > G | / | Intron Variant | 37,450 | Pathogenic | 1 |
BRCA1 | Exon 6 | rs886040119 | c.335del | p.Asn112Ilefs*7 | Frameshift | 266,359 | Pathogenic | 1 |
BRCA1 | Exon 7 | rs1567806048 | c.520 C > T | p.Gln174* | Nonsense | 575,899 | Pathogenic | 1 |
BRCA1 | Exon 10 | rs80357814 | c.2110_2111del | p.Asn704Cysfs*7 | Frameshift | 54,462 | Pathogenic | 1 |
BRCA1 | Exon 16 | rs80357034 | c.5072 C > A | p.Thr1691Lys | Missense | 37,627 | Likely Pathogenic | 2 |
BRCA1 | Exon 23 | rs80357973 | c.5470_5477del | p.Ile1824Aspfs | Frameshift & splice acceptor variant | 55,591 | Pathogenic | 1 |
BRCA1 | Exon 23 | Novel | c.5485del | p.Glu1829Argfs*5 | Frameshift | / | Pathogenic | 1 |
BRCA2 | Exon 9 | rs80359670 | c.767_768del | p.Thr256Lysfs*19 | Frameshift | 52,382 | Pathogenic | 1 |
BRCA2 | Exon 9 | rs75096777 | c.774_775del | p.Glu260Serfs*15 | Frameshift | 188,425 | Pathogenic | 1 |
BRCA2 | Exon 11 | rs276174819 | c.2175del | p.Val726Phefs*4 | Frameshift | 926,187 | Pathogenic | 1 |
BRCA2 | Exon 11 | rs80359351 | c.2808_2811del | p.Ala938Profs*21 | Frameshift | 9,322 | Pathogenic | 1 |
BRCA2 | Exon 11 | rs80358638 | c.3922G > T | p.Glu1308* | Nonsense | 37,867 | Pathogenic | 1 |
BRCA2 | Exon 11 | rs80359430 | c.4133_4136del | p.Thr1378Argfs* | Frameshift | 51,602 | Likely Pathogenic | 1 |
BRCA2 | Exon 11 | rs80359594 | c.6448dup | p.Val2151Serfs*25 | Frameshift | 52,107 | Pathogenic | 1 |
BRCA2 | Exon 19 | / | c.8399_8400insA | p.Pro2802Serfs*10 | Frameshift | / | Pathogenic | 1 |
BRCA2 | Exon 22 | rs397508019 | c.8915del | p.Leu2972Cysfs*4 | Frameshift | 52,701 | Pathogenic | 1 |
BRCA2 | Exon 23 | / | c.9037del | p.Thr3013Leufs*15 | Frameshift | 1,454,156 | Pathogenic | 1 |
BRCA2 | Exon 23 | rs397507419 | c.9097dup | p.Thr3033Asnfs*11 | Frameshift | 38,208 | Pathogenic | 2 |