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NM_017849.3(TMEM127):c.*2888del

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000337453.2
Variation ID:
337453
Description:
1bp deletion
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NM_017849.3(TMEM127):c.*2888del

Allele ID
287550
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
2q11.2
Genomic location
2: 96250920 (GRCh38) GRCh38 UCSC
2: 96916658 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_528:g.20094del
NM_017849.3:c.*2888delT 3 prime UTR
LRG_528t1:c.*2888del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:96250919:AAAA:AAA
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (AAA)

Allele frequency
-
Links
ClinGen: CA10614148
dbSNP: rs139762991
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 Jun 14, 2016 RCV000265617.2
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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 Sufficient evidence for dosage pathogenicity No evidence available 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 benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Pheochromocytoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000432489.2
Submitted: (Oct 18, 2016)
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 rs139762991...

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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 Sep 29, 2021