BRCA1 L1407P

CI-VAR-00002238Explore in graph →NP_009225.1:p.Leu1407ProNM_007294.4:c.4220T>CClinVar 55144 CIViC 4273 rs80357492

Curated evidence

Evidence by cancer (1 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–1 of 1 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Unmapped disease1unmapped disease
BRCA1 L1407P	(functional)	Functional	D	Supports Loss Of Function	4	submitted	EID10947 Mice carrying the p.L1363P variant (the equivalent of human p.L1407P) were created using a CRISPR/Cas9 protocol. Heterozygous mice were viable without any apparent aberrant phenotypes. Homozygous mice… (full text at CIViC) PMID 34548335 · Pulver et al., 2021 · Open in CIViC	civic

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
55144	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Breast-ovarian cancer, familial, susceptibility to, 1; Hereditary breast ovarian cancer syndrome; Hereditary cancer-predisposing syndrome	germline	3	Apr 22, 2026	clinvar