rs118203998

minus

Geno	Mag	Summary
(A;C)	5	PALB2-related cancer risk
(C;C)	0	common in complete genomics
(C;G)	3	increased risk of breast cancer
(G;G)	7	Fanconi anemia, complementation group N

Reference

GRCh38 38.1/141

Chromosome

16

Position

23603471

Gene

7

ClinVar
Risk	rs118203998(A;A) Rs118203998(G;G)
Alt	rs118203998(A;A) Rs118203998(G;G)
Reference	Rs118203998(C;C)
Significance	Other
Disease	Fanconi anemia Breast cancer Familial cancer of breast Pancreatic cancer 3 not specified Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	PALB2
CLNDBN	Fanconi anemia, complementation group N Breast cancer, susceptibility to Familial cancer of breast Pancreatic cancer 3 not specified Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000016.9:g.23614792G>C; NC_000016.9:g.23614792G>T
CLNSRC	OMIM Allelic Variant PALB2 database
CLNACC	RCV000001304.2, RCV000001305.2, RCV000114634.6, RCV000114635.1, RCV000121742.1, RCV000129158.7, RCV000212830.2, RCV000116108.8, RCV000200012.3, RCV000212831.2,

[PMID 17200668 ] PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.

[PMID 21365267 ] PALB2 mutations in familial breast and pancreatic cancer.