NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Feb 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001291575.1

Allele description [Variation Report for NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu)]

NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu)

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.1037C>T (p.Pro346Leu)
HGVS:
  • NC_000004.12:g.6300832C>T
  • NG_011700.1:g.35983C>T
  • NM_001145853.1:c.1037C>T
  • NM_006005.3:c.1037C>TMANE SELECT
  • NP_001139325.1:p.Pro346Leu
  • NP_005996.2:p.Pro346Leu
  • LRG_1417t1:c.1037C>T
  • LRG_1417:g.35983C>T
  • LRG_1417p1:p.Pro346Leu
  • NC_000004.11:g.6302559C>T
Protein change:
P346L
Links:
dbSNP: rs773900146
NCBI 1000 Genomes Browser:
rs773900146
Molecular consequence:
  • NM_001145853.1:c.1037C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.1037C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001480111Institute of Medical Genetics and Applied Genomics, University Hospital Tübingencriteria provided, single submitter
Likely pathogenic
(Feb 1, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001480111.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

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