ACMG Pathogenicity

Gene

Consequence

NT Change

AA Change (Single)

Chr

Start Position

Fraction

Depth

Exon

dbSNP ID

Pathogenic

BRCA1

stop_gained

c.928C>T

p.Q310*

chr17

41246620

56.15

1560

10/23

rs397509338

Uncertain significance

BRCA1

missense_variant

c.2566T>C

p.Y856H

chr17

41244982

54.15

772

10/23

rs80356892

Benign

BRCA2

missense_variant

c.1114A>C

p.N372H

chr13

32906729

41.41

3110

10/27

rs144848

Benign

BRCA2

synonymous_variant

c.4563A>G

p.L1521L

chr13

32913055

99.65

1435

11/27

rs206075

Benign

BRCA2

synonymous_variant

c.6513G>C

p.V2171V

chr13

32915005

100

1467

11/27

rs206076

Benign

BRCA2

missense_variant

c.7397T>C

p.V2466A

chr13

32929387

99.87

2227

14/27

rs169547