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NM_000545.8(HNF1A):c.441C>A (p.His147Gln) 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:
RCV000030502.3

Allele description [Variation Report for NM_000545.8(HNF1A):c.441C>A (p.His147Gln)]

NM_000545.8(HNF1A):c.441C>A (p.His147Gln)

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.441C>A (p.His147Gln)
Other names:
NM_000545.8(HNF1A):c.441C>A
HGVS:
  • NC_000012.12:g.120988947C>A
  • NG_011731.2:g.15202C>A
  • NM_000545.8:c.441C>AMANE SELECT
  • NM_001306179.2:c.441C>A
  • NP_000536.6:p.His147Gln
  • NP_001293108.2:p.His147Gln
  • LRG_522t1:c.441C>A
  • LRG_522:g.15202C>A
  • NC_000012.11:g.121426750C>A
  • NC_000012.11:g.121426750C>A
  • NM_000545.5:c.441C>A
Protein change:
H147Q
Links:
dbSNP: rs193922597
NCBI 1000 Genomes Browser:
rs193922597
Molecular consequence:
  • NM_000545.8:c.441C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306179.2:c.441C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000053173Women'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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000053173.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
2not providednot providednot providednot providedclinical testingnot provided
3not providednot providednot providednot providedclinical testingnot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2
3germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 3

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteHNF4A:c.116-5C>T, TCF1:c.79A>C, TCF1:c.51C>G, TCF1:c.1720A>G, TCF1:c.1460G>A, TCF1:c.1375C>T, TCF1:c.1501+7G>A1
3SingleHeterozygoteTCF1:c.51C>G, TCF1:c.1545G>A, TCF1:c.864G>C, TCF1:c.1720A>G1

Last Updated: Sep 29, 2024