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NM_001034850.2(RETREG1):c.466G>T (p.Val156Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
Aug 7, 2017
Accession:
VCV000470693.1
Variation ID:
470693
Description:
single nucleotide variant
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NM_001034850.2(RETREG1):c.466G>T (p.Val156Phe)

Allele ID
455398
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.1
Genomic location
5: 16483465 (GRCh38) GRCh38 UCSC
5: 16483574 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.16483465C>A
NC_000005.9:g.16483574C>A
NM_001034850.2:c.466G>T NP_001030022.1:p.Val156Phe missense
... more HGVS
Protein change
V156F
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA3210426
dbSNP: rs758377163
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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 Aug 7, 2017 RCV000547437.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RETREG1 - - GRCh38
GRCh37
112 229

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 07, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary sensory and autonomic neuropathy type IIB
Allele origin: germline
Invitae
Accession: SCV000648505.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces valine with phenylalanine at codon 156 of the FAM134B protein (p.Val156Phe). The valine residue is moderately conserved and there is a ... (more)

Citations for this variant

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

Record last updated Oct 27, 2019