rs121909229

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6.3	Likely miscall in Ancestry data; otherwise, Hereditary cancer predisposing syndrome
(G;G)	0	common in clinvar
(G;T)	6.3	Hereditary cancer predisposing syndrome

Make rs121909229(A;A)

Reference

GRCh38 38.1/141

Chromosome

10

Position

87933148

Gene

PTEN

is a	snp
is	mentioned by
dbSNP	rs121909229
dbSNP (classic)	rs121909229
ClinGen	rs121909229
ebi	rs121909229
HLI	rs121909229
Exac	rs121909229
Gnomad	rs121909229
Varsome	rs121909229
LitVar	rs121909229
Map	rs121909229
PheGenI	rs121909229
Biobank	rs121909229
1000 genomes	rs121909229
hgdp	rs121909229
ensembl	rs121909229
geneview	rs121909229
scholar	rs121909229
google	rs121909229
pharmgkb	rs121909229
gwascentral	rs121909229
openSNP	rs121909229
23andMe	rs121909229
SNPshot	rs121909229
SNPdbe	rs121909229
MSV3d	rs121909229
GWAS Ctlg	rs121909229

Max Magnitude

6.3

rs121909229 represents a variant in the PTEN gene on chromosome 10. All three possible substition mutations are known, so this rs121909229 is also known as c.389G>T (p.Arg130Leu), c.389G>A (p.Arg130Gln), and c.389G>C (p.Arg130Pro).

The first two variants are considered pathogenic as germline mutations leading to PTEN-related cancer predispositions; the clinical significance of the third (c.389G>C) is uncertain.

OMIM	601728
Desc
Variant	0017
Related	also

ClinVar
Risk	rs121909229(A;A) rs121909229(C;C) rs121909229(T;T)
Alt	rs121909229(A;A) rs121909229(C;C) rs121909229(T;T)
Reference	Rs121909229(G;G)
Significance	Pathogenic
Disease	Cowden syndrome 1 Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome not provided Neoplasm Colorectal Neoplasms Adenocarcinoma of prostate Malignant melanoma of skin Adenocarcinoma of stomach Ovarian Neoplasms Neoplasm of breast Uterine cervical neoplasms Uterine Carcinosarcoma Malignant neoplasm of body of uterus Glioblastoma Squamous cell carcinoma of lung Renal cell carcinoma Small cell lung cancer Squamous cell carcinoma of the head and neck
Variation	info
Gene	PTEN
CLNDBN	Cowden syndrome 1 Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome not provided Neoplasm Colorectal Neoplasms Adenocarcinoma of prostate Malignant melanoma of skin Adenocarcinoma of stomach Ovarian Neoplasms Neoplasm of breast Uterine cervical neoplasms Uterine Carcinosarcoma Malignant neoplasm of body of uterus Glioblastoma Squamous cell carcinoma of lung Renal cell carcinoma Small cell lung cancer Squamous cell carcinoma of the head and neck
Reversed	0
HGVS	NC_000010.10:g.89692905G>A; NC_000010.10:g.89692905G>C; NC_000010.10:g.89692905G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008275.2, RCV000131067.4, RCV000178761.1, RCV000212880.1, RCV000419778.1, RCV000420485.1, RCV000420647.1, RCV000421074.1, RCV000422627.1, RCV000427853.1, RCV000429175.1, RCV000429864.1, RCV000432211.1, RCV000432862.1, RCV000435236.1, RCV000437651.1, RCV000438720.1, RCV000439397.1, RCV000440076.1, RCV000130803.2, RCV000418382.1, RCV000418980.1, RCV000421218.1, RCV000426378.1, RCV000427982.1, RCV000428635.1, RCV000429247.1, RCV000435997.1, RCV000436686.1, RCV000437255.1, RCV000438856.1, RCV000441753.1, RCV000443617.1, RCV000419474.1, RCV000421727.1, RCV000422329.1, RCV000424192.1, RCV000427024.1, RCV000429105.1, RCV000429740.1, RCV000431964.1, RCV000434449.1, RCV000439348.1, RCV000440004.1, RCV000443701.1, RCV000443776.1, RCV000482735.1, RCV000490825.1,