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

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Oct 25, 2023
Review status:
no classifications from unflagged records
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:
RCV000664090.5

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:
Monogenic diabetes
Identifiers:
MONDO: MONDO:0015967; MedGen: C3888631

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown3not providednot providednot providednot providedresearch

Citations

PubMed

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, et al.

Hum Mutat. 2017 Jul;38(7):764-777. doi: 10.1002/humu.23233. Epub 2017 Jun 1.

PubMed [citation]
PMID:
28432734
PMCID:
PMC5535005

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 Personalized Diabetes Medicine Program, University of Maryland School of Medicine, SCV000787542.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedresearch PubMed (2)

Description

ACMG criteria: PP3 (10 predictors), BS2 ( 8 controls and 5 cases in T2DM), BP6 (GeneDx says benign), NOTE: Emory and Partners call it VUS, (previously reported in patient with optic atrophy, hearing loss, neurogenic bladder, but no diabetes), PMID 28432734)=likely benign

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided3not providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000787542Personalized Diabetes Medicine Program, University of Maryland School of Medicine
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(ACMG Guidelines, 2015)		Likely benign
(Jan 12, 2018) 		unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

type2diabetesgenetics.org

Last Updated: Sep 16, 2024