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NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) AND HNF1A-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 3, 2023
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:
RCV003392554.4

Allele description [Variation Report for NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)]

NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)

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.626C>A (p.Ala209Glu)
Other names:
NM_000545.8(HNF1A):c.626C>A; p.Ala209Glu
HGVS:
  • NC_000012.12:g.120993619C>A
  • NG_011731.2:g.19874C>A
  • NM_000545.8:c.626C>AMANE SELECT
  • NM_001306179.2:c.626C>A
  • NP_000536.5:p.Ala209Glu
  • NP_000536.6:p.Ala209Glu
  • NP_001293108.2:p.Ala209Glu
  • LRG_522t1:c.626C>A
  • LRG_522:g.19874C>A
  • NC_000012.11:g.121431422C>A
  • NC_000012.11:g.121431422C>A
  • NM_000545.5:c.626C>A
  • NM_000545.6:c.626C>A
Protein change:
A209E
Links:
dbSNP: rs1286294151
NCBI 1000 Genomes Browser:
rs1286294151
Molecular consequence:
  • NM_000545.8:c.626C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306179.2:c.626C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HNF1A-related disorder
Synonyms:
HNF1A-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004121490PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 3, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot 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 PreventionGenetics, part of Exact Sciences, SCV004121490.1

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

Description

The HNF1A c.626C>A variant is predicted to result in the amino acid substitution p.Ala209Glu. This variant was reported in at least one individual with maturity onset diabetes of the young as well as study participants with or without type 2 diabetes (Supplementary Table 10, Bonnefond et al. 2020. PubMed ID: 33046911; Table S3, Mirshahi et al. 2022. PubMed ID: 36257325). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating it is rare. In ClinVar, it has conflicting interpretations ranging from uncertain to pathogenic, including likely pathogenic classification by the ClinGen Monogenic Diabetes Variant Curation Expert Panel (https://www.ncbi.nlm.nih.gov/clinvar/variation/586794/). This variant is interpreted as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024