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NM_006005.3(WFS1):c.1118A>G (p.Asn373Ser) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 10, 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:
RCV004482923.1

Allele description [Variation Report for NM_006005.3(WFS1):c.1118A>G (p.Asn373Ser)]

NM_006005.3(WFS1):c.1118A>G (p.Asn373Ser)

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.1118A>G (p.Asn373Ser)
HGVS:
  • NC_000004.12:g.6300913A>G
  • NG_011700.1:g.36064A>G
  • NM_001145853.1:c.1118A>G
  • NM_006005.3:c.1118A>GMANE SELECT
  • NP_001139325.1:p.Asn373Ser
  • NP_005996.1:p.Asn373Ser
  • NP_005996.2:p.Asn373Ser
  • LRG_1417t1:c.1118A>G
  • LRG_1417:g.36064A>G
  • LRG_1417p1:p.Asn373Ser
  • NC_000004.11:g.6302640A>G
  • NM_006005.2:c.1118A>G
Protein change:
N373S
Molecular consequence:
  • NM_001145853.1:c.1118A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.1118A>G - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004979906Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 10, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004979906.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 7, 2024