NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr) AND Pheochromocytoma

Germline classification:: Likely pathogenic (1 submission)
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:: RCV000114831.1

Allele description [Variation Report for NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr)]

NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr)

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.419G>A (p.Cys140Tyr)

HGVS:

NC_000002.12:g.96254106C>T
NG_027695.1:g.16908G>A
NM_001193304.3:c.419G>A
NM_017849.4:c.419G>AMANE SELECT
NP_001180233.1:p.Cys140Tyr
NP_060319.1:p.Cys140Tyr
NP_060319.1:p.Cys140Tyr
LRG_528t1:c.419G>A
LRG_528:g.16908G>A
LRG_528p1:p.Cys140Tyr
NC_000002.11:g.96919844C>T
NM_017849.3:c.419G>A
O75204:p.Cys140Tyr

Protein change:

C140Y

Links:

UniProtKB: O75204#VAR_072278; dbSNP: rs121908828

NCBI 1000 Genomes Browser:

rs121908828

Molecular consequence:

NM_001193304.3:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_017849.4:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pheochromocytoma
Synonyms:: Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008233; MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000148726	Familial Cancer Clinic, Veneto Institute of Oncology	no assertion criteria provided	likely pathogenic - adrenal bilateral pheochromocy	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000148726

Familial Cancer Clinic, Veneto Institute of Oncology

no assertion criteria provided

likely pathogenic - adrenal bilateral pheochromocy

germline

not provided

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	1	not provided	literature only

Citations

PubMed

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

Yao L, Schiavi F, Cascon A, Qin Y, Inglada-Pérez L, King EE, Toledo RA, Ercolino T, Rapizzi E, Ricketts CJ, Mori L, Giacchè M, Mendola A, Taschin E, Boaretto F, Loli P, Iacobone M, Rossi GP, Biondi B, Lima-Junior JV, Kater CE, Bex M, et al.

JAMA. 2010 Dec 15;304(23):2611-9. doi: 10.1001/jama.2010.1830.

PubMed [citation]

PMID:: 21156949

Details of each submission

From Familial Cancer Clinic, Veneto Institute of Oncology, SCV000148726.1

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

Description

Converted during submission to Likely pathogenic.

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

Last Updated: Sep 29, 2024

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