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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000148726Familial Cancer Clinic, Veneto Institute of Oncology
no assertion criteria provided
likely pathogenic - adrenal bilateral pheochromocygermlinenot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providedliterature 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024