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NM_017849.4(TMEM127):c.394G>A (p.Ala132Thr)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 6, 2020
Accession:
VCV000186727.7
Variation ID:
186727
Description:
single nucleotide variant
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NM_017849.4(TMEM127):c.394G>A (p.Ala132Thr)

Allele ID
182200
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q11.2
Genomic location
2: 96254848 (GRCh38) GRCh38 UCSC
2: 96920586 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_528:g.16166G>A
LRG_528t1:c.394G>A LRG_528p1:p.Ala132Thr
NC_000002.11:g.96920586C>T
... more HGVS
Protein change
A132T
Other names
-
Canonical SPDI
NC_000002.12:96254847:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00015
Exome Aggregation Consortium (ExAC) 0.00023
Links
ClinGen: CA195674
dbSNP: rs750870974
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter May 31, 2018 RCV000166369.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000403744.2
Likely benign 1 criteria provided, single submitter Nov 6, 2020 RCV000543955.5
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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
Likely benign
(May 31, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000217159.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Other data supporting benign classification
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Pheochromocytoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000432543.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Nov 06, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Allele origin: germline
Invitae
Accession: SCV000637920.5
Submitted: (Jan 07, 2021)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs750870974...

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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 Nov 20, 2021