BRCA1 c.5096G>A 37636

Gene

BRCA1

Coding Change (c.)

c.5096G>A

Protein Change (p.)

p.Arg1699Gln

ClinVar Name

NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)

ClinVar Number

37636

Variant Forum

https://messageboard.facingourrisk.org/t/r1699q-intermediate-risk/925

Notes

Additional Links: https://messageboard.facingourrisk.org/t/brca1-c-5096g-a-p-arg1699gln/6014

This variant has been estimated t have intermediate risk compared to other BRCA1 variants. Cumulative risk of breast cancer age 70 years was 20% and cumulative risk of ovarian by age 70 was 6%. See https://pubmed.ncbi.nlm.nih.gov/28490613/

Other Names

p.R1699Q:CGG>CAG 5215G>A