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NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 12, 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:
RCV000155342.11

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]
Observations:
3

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
SCV000205028Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Jun 12, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided43not providednot providednot providedclinical testing

Citations

PubMed

Is there a relationship between Wolfram syndrome carrier status and suicide?

Crawford J, Zielinski MA, Fisher LJ, Sutherland GR, Goldney RD.

Am J Med Genet. 2002 Apr 8;114(3):343-6.

PubMed [citation]
PMID:
11920861

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
See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000205028.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (4)

Description

Variant classified as Uncertain Significance - Favor Benign. The p.Pro533Ser var iant in WFS1 has been reported in 1 individual with Wolfram Syndrome and 1 indiv idual with post-lingual mild sensorineural hearing loss, but a second variant in WFS1 was not identified in either case (Prince 2012, LMM data). This variant wa s identified in an unaffected parent, suggesting that it would not cause the dom inant form of disease. This variant has also been identified in 0.12% (82/67552) of European chromosomes by the Exome Aggregation Consortium (http://exac.broadi nstitute.org; dbSNP rs146132083), though this frequency is not high enough to ru le out a pathogenic role. Computational prediction tools and conservation analys is suggest that the Pro533Ser variant may impact the protein, though this inform ation is not predictive enough to determine pathogenicity. In summary, while the clinical significance of the p.Pro533Ser variant is uncertain, its frequency in the general population suggests that it is more likely to be benign. ACMG/AMP c riteria applied: BS1_Supporting.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided4not provided3not provided

Last Updated: Sep 16, 2024