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NM_017849.4(TMEM127):c.1A>T (p.Met1Leu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 23, 2020
Accession:
VCV000949685.2
Variation ID:
949685
Description:
single nucleotide variant
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NM_017849.4(TMEM127):c.1A>T (p.Met1Leu)

Allele ID
922955
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q11.2
Genomic location
2: 96265381 (GRCh38) GRCh38 UCSC
2: 96931119 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.96931119T>A
NC_000002.12:g.96265381T>A
NM_017849.4:c.1A>T MANE Select NP_060319.1:p.Met1Leu missense
... more HGVS
Protein change
M1L
Other names
-
Canonical SPDI
NC_000002.12:96265380:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Aug 23, 2020 RCV001221200.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TMEM127 - - GRCh38
GRCh37
473 531

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 23, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Allele origin: germline
Invitae
Accession: SCV001393226.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects the initiator methionine of the TMEM127 mRNA. The next in-frame methionine is located at codon 85. The frequency data for this … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas. Eijkelenkamp K Clinical genetics 2018 PMID: 29282712
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention. Bausch B JAMA oncology 2017 PMID: 28384794
Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. Yao L JAMA 2010 PMID: 21156949

Record last updated May 10, 2021