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NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 5, 2022
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:
RCV002514675.3

Allele description [Variation Report for NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)]

NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)

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.1597C>T (p.Pro533Ser)
Other names:
p.P533S:CCC>TCC
HGVS:
  • NC_000004.12:g.6301392C>T
  • NG_011700.1:g.36543C>T
  • NM_001145853.1:c.1597C>T
  • NM_006005.3:c.1597C>TMANE SELECT
  • NP_001139325.1:p.Pro533Ser
  • NP_005996.2:p.Pro533Ser
  • LRG_1417t1:c.1597C>T
  • LRG_1417:g.36543C>T
  • LRG_1417p1:p.Pro533Ser
  • NC_000004.11:g.6303119C>T
  • p.P533S
Protein change:
P533S
Links:
dbSNP: rs146132083
NCBI 1000 Genomes Browser:
rs146132083
Molecular consequence:
  • NM_001145853.1:c.1597C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.1597C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003539792Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Aug 5, 2022)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.

Vona B, Müller T, Nanda I, Neuner C, Hofrichter MA, Schröder J, Bartsch O, Läßig A, Keilmann A, Schraven S, Kraus F, Shehata-Dieler W, Haaf T.

Genet Med. 2014 Dec;16(12):945-53. doi: 10.1038/gim.2014.65. Epub 2014 May 29.

PubMed [citation]
PMID:
24875298
PMCID:
PMC4262760

Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes.

Lewis MA, Nolan LS, Cadge BA, Matthews LJ, Schulte BA, Dubno JR, Steel KP, Dawson SJ.

BMC Med Genomics. 2018 Sep 4;11(1):77. doi: 10.1186/s12920-018-0395-1.

PubMed [citation]
PMID:
30180840
PMCID:
PMC6123954
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV003539792.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

The c.1597C>T (p.P533S) alteration is located in exon 8 (coding exon 7) of the WFS1 gene. This alteration results from a C to T substitution at nucleotide position 1597, causing the proline (P) at amino acid position 533 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024