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NM_017849.4(TMEM127):c.31G>T (p.Gly11Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 30, 2020)
Last evaluated:
Jul 24, 2019
Accession:
VCV000577335.4
Variation ID:
577335
Description:
single nucleotide variant
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NM_017849.4(TMEM127):c.31G>T (p.Gly11Cys)

Allele ID
562130
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q11.2
Genomic location
2: 96265351 (GRCh38) GRCh38 UCSC
2: 96931089 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_528:g.5663G>T
LRG_528t1:c.31G>T LRG_528p1:p.Gly11Cys
NC_000002.11:g.96931089C>A
... more HGVS
Protein change
G11C
Other names
-
Canonical SPDI
NC_000002.12:96265350:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs992633976
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 24, 2019 RCV000700061.2
Uncertain significance 1 criteria provided, single submitter Dec 22, 2016 RCV000761105.1
Uncertain significance 1 criteria provided, single submitter Apr 4, 2019 RCV001019154.1
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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 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
474 532

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 22, 2016)
criteria provided, single submitter
Method: clinical testing
Acute promyelocytic leukemia
Allele origin: germline
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital
Accession: SCV000891020.1
Submitted: (Dec 04, 2018)
Evidence details
Uncertain significance
(Jul 24, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Allele origin: germline
Invitae
Accession: SCV000828800.2
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glycine with cysteine at codon 11 of the TMEM127 protein (p.Gly11Cys). The glycine residue is moderately conserved and there is a … (more)
Uncertain significance
(Apr 04, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001180477.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.G11C variant (also known as c.31G>T), located in coding exon 1 of the TMEM127 gene, results from a G to T substitution at nucleotide … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs992633976...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 04, 2021