U.S. flag

An official website of the United States government

NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile) AND Maturity-onset diabetes of the young type 3

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 18, 2011
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:
RCV000030509.3

Allele description [Variation Report for NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile)]

NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile)

Gene:
HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile)
Other names:
NM_000545.8(HNF1A):c.731G>T
HGVS:
  • NC_000012.12:g.120994181G>T
  • NG_011731.2:g.20436G>T
  • NM_000545.8:c.731G>TMANE SELECT
  • NM_001306179.2:c.731G>T
  • NP_000536.6:p.Arg244Ile
  • NP_001293108.2:p.Arg244Ile
  • LRG_522t1:c.731G>T
  • LRG_522:g.20436G>T
  • NC_000012.11:g.121431984G>T
  • NM_000545.5:c.731G>T
Protein change:
R244I
Links:
dbSNP: rs193922602
NCBI 1000 Genomes Browser:
rs193922602
Molecular consequence:
  • NM_000545.8:c.731G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306179.2:c.731G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Maturity-onset diabetes of the young type 3
Synonyms:
Diabetes mellitus MODY type 3; MODY hepatocyte nuclear factor-1-alpha related; MODY type 3; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010894; MedGen: C1838100; Orphanet: 552; OMIM: 600496

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000053180Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		likely pathogenic
(Aug 18, 2011) 		germlinecuration, clinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot provided1not providedcuration

Citations

PubMed

Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.

Awa WL, Thon A, Raile K, Grulich-Henn J, Meissner T, Schober E, Holl RW; DPV-Wiss. Study Group..

Eur J Endocrinol. 2011 Apr;164(4):513-20. doi: 10.1530/EJE-10-0842. Epub 2011 Jan 11.

PubMed [citation]
PMID:
21224407

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000053180.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (1)
2not providednot providednot providednot providedclinical testing PubMed (1)

Description

"The variant was detected in a patient diagnosed with MODY3 (listed in the German-Austrian DPV database); controls not tested."

PubMed [ID: 21224407]

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteGCK:c.1253+8C>T, TCF1:c.51C>G, TCF1:c.864G>C, TCF1:c.79A>C, TCF1:c.1545G>A, TCF1:c.1501+7G>A, TCF1:c.1460G>A, TCF1:c.1375C>T, TCF1:c.1720A>G1

Last Updated: Sep 29, 2024