U.S. flag

An official website of the United States government

NM_000545.8(HNF1A):c.1323G>A (p.Thr441=) AND Maturity-onset diabetes of the young type 3

Germline classification:
Likely benign (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:
RCV000030480.10

Allele description [Variation Report for NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)]

NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)

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.1323G>A (p.Thr441=)
HGVS:
  • NC_000012.12:g.120997487G>A
  • NG_011731.2:g.23742G>A
  • NM_000545.8:c.1323G>AMANE SELECT
  • NM_001306179.2:c.1323G>A
  • NP_000536.6:p.Thr441=
  • NP_001293108.2:p.Thr441=
  • LRG_522t1:c.1323G>A
  • LRG_522:g.23742G>A
  • NC_000012.11:g.121435290G>A
  • NM_000545.5:c.1323G>A
  • NM_000545.6:c.1323G>A
Links:
dbSNP: rs138996307
NCBI 1000 Genomes Browser:
rs138996307
Molecular consequence:
  • NM_000545.8:c.1323G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001306179.2:c.1323G>A - synonymous variant - [Sequence Ontology: SO:0001819]
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
SCV000053150Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

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

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000053150.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
2not providednot providednot providednot providedclinical testingnot provided

Description

Converted during submission to Likely benign.

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

Co-occurrences

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

Last Updated: Oct 26, 2024