NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter) AND Pheochromocytoma, susceptibility to

Germline classification:: risk factor (1 submission)
Last evaluated:: Mar 1, 2010
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000000128.3

Allele description [Variation Report for NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter)]

NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter)

Gene:

TMEM127:transmembrane protein 127 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q11.2

Genomic location:

Preferred name:

NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter)

HGVS:

NC_000002.12:g.96254050G>A
NG_027695.1:g.16964C>T
NM_001193304.3:c.475C>T
NM_017849.4:c.475C>TMANE SELECT
NP_001180233.1:p.Gln159Ter
NP_060319.1:p.Gln159Ter
NP_060319.1:p.Gln159Ter
LRG_528t1:c.475C>T
LRG_528:g.16964C>T
LRG_528p1:p.Gln159Ter
NC_000002.11:g.96919788G>A
NM_017849.3:c.475C>T
p.Q159*

Protein change:

Q159*; GLN159TER

Links:

OMIM: 613403.0002; dbSNP: rs121908830

NCBI 1000 Genomes Browser:

rs121908830

Molecular consequence:

NM_001193304.3:c.475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_017849.4:c.475C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Pheochromocytoma, susceptibility to
Identifiers:: MedGen: C3149711

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000020271	OMIM	no assertion criteria provided	risk factor (Mar 1, 2010)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000020271

OMIM

no assertion criteria provided

risk factor
(Mar 1, 2010)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL.

Nat Genet. 2010 Mar;42(3):229-33. doi: 10.1038/ng.533. Epub 2010 Feb 14.

PubMed [citation]

PMID:: 20154675
PMCID:: PMC2998199

Details of each submission

From OMIM, SCV000020271.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 members of a family with pheochromocytoma (171300), Qin et al. (2010) identified a heterozygous 475C-T germline transition in the TMEM127 gene, resulting in a gln159-to-ter (Q159X) substitution. Analysis of tumor tissue showed loss of heterozygosity at the TMEM127 locus, consistent with a 2-hit model of tumor suppressor inactivation. Age at onset was 49 and 72 years, respectively, and both patients had bilateral tumors. TMEM127 expression was decreased, consistent with a loss of function.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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