BRCA2

CHR13:32,315,474-32,400,266 · GRCH38 · SAMPLE HX-4471

1 pathogenic 4 uncertain

Variant map

lollipop height is -log10 p, colour is classification
Variant lollipop plot across BRCA2 with the exon structure beneath Twenty-six variants. One pathogenic frameshift sits in exon 11, four are of uncertain significance, the rest are benign. Coverage is even across the gene. 32,315,474 32,400,266

Pathogenic Uncertain Benign Exon

Read coverage

mean 96x, minimum 41x

Called variant

c.5946delT

Protein
p.Ser1982fs
Consequence
Frameshift
Zygosity
Heterozygous
Depth
112x
Allele fraction
0.49
gnomAD
0.0004%
ACMG
PVS1, PM2, PP5

Sequence context

reference versus sample

... G A T C A A C T G T G A C T T C A G G ...

... G A T C A A C T G - G A C T T C A G G ...

Single base deletion at position 32,340,301 shifts the reading frame and introduces a premature stop 12 codons downstream.

Classification

26 called, 5 reportable
Called variants with consequence and classification
VariantConsequenceAFClass
c.5946delTFrameshift0.49 Pathogenic
c.7522G>AMissense0.51 Uncertain
c.865A>CMissense0.47 Uncertain
c.1114C>AMissense0.52 Benign
c.3396A>GSynonymous0.99 Benign