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NM_006005.3(WFS1):c.400G>A (p.Ala134Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 30, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000826085.7

Allele description [Variation Report for NM_006005.3(WFS1):c.400G>A (p.Ala134Thr)]

NM_006005.3(WFS1):c.400G>A (p.Ala134Thr)

Gene:
WFS1:wolframin ER transmembrane glycoprotein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.1
Genomic location:
Preferred name:
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr)
Other names:
p.A134T:GCG>ACG
HGVS:
  • NC_000004.12:g.6289071G>A
  • NG_011700.1:g.24222G>A
  • NM_001145853.1:c.400G>A
  • NM_006005.3:c.400G>AMANE SELECT
  • NP_001139325.1:p.Ala134Thr
  • NP_005996.2:p.Ala134Thr
  • LRG_1417t1:c.400G>A
  • LRG_1417:g.24222G>A
  • LRG_1417p1:p.Ala134Thr
  • NC_000004.11:g.6290798G>A
  • p.Ala134Thr
Protein change:
A134T
Links:
dbSNP: rs147724970
NCBI 1000 Genomes Browser:
rs147724970
Molecular consequence:
  • NM_001145853.1:c.400G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.400G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000967580Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Aug 30, 2018) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical testing

Citations

PubMed

Wolfram syndrome and WFS1 gene.

Rigoli L, Lombardo F, Di Bella C.

Clin Genet. 2011 Feb;79(2):103-17. doi: 10.1111/j.1399-0004.2010.01522.x. Epub 2010 Aug 26. Review.

PubMed [citation]
PMID:
20738327

Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome.

Bodoor K, Batiha O, Abu-Awad A, Al-Sarihin K, Ziad H, Jarun Y, Abu-Sheikha A, Abu Jalboush S, Alibrahim KS.

Meta Gene. 2016 Sep;9:219-24. doi: 10.1016/j.mgene.2016.07.003.

PubMed [citation]
PMID:
27617222
PMCID:
PMC5006133
See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000967580.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (4)

Description

The p.Ala134Thr variant in WFS1 has not been previously reported in individuals with hearing loss, Wolfram syndrome, or Wolfram like syndrome, but has been iden tified in 0.03% (26/101904) European chromosomes by gnomAD (http://gnomad.broadi nstitute.org). This variant has also been reported in ClinVar (Variation ID 2154 10). Computational prediction tools and conservation analysis do not provide str ong support for or against an impact to the protein. In summary, the clinical s ignificance of the p.Ala134Thr variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Apr 15, 2024