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NM_017849.3(TMEM127):c.308del (p.Gly103fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 21, 2019)
Last evaluated:
Apr 7, 2016
Accession:
VCV000165445.2
Variation ID:
165445
Description:
1bp deletion
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NM_017849.3(TMEM127):c.308del (p.Gly103fs)

Allele ID
173538
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
2q11.2
Genomic location
2: 96254934 (GRCh38) GRCh38 UCSC
2: 96920672 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.12:g.96254936del
NC_000002.11:g.96920674del
NM_001193304.3:c.308del NP_001180233.1:p.Gly103fs frameshift
... more HGVS
Protein change
G103fs
Other names
-
Canonical SPDI
NC_000002.12:96254933:CCC:CC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA273242
dbSNP: rs727503490
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 Apr 7, 2016 RCV000152047.2
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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
(Apr 07, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary Paraganglioma-Pheochromocytoma Syndromes
(Autosomal dominant inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000200639.5
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The p.Gly103fs variant in TMEM127 has been identified in 1 individual with pheoc hromocytomas and renal cell carcinoma (Hernandez 2015, LMM data). It has not … (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
Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association. Hernandez KG Virchows Archiv : an international journal of pathology 2015 PMID: 25800244

Text-mined citations for rs727503490...

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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 Jul 07, 2021