NM_000545.8(HNF1A):c.710A>G (p.Asn237Ser) AND HNF1A-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 10, 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:: RCV003403728.4

Allele description [Variation Report for NM_000545.8(HNF1A):c.710A>G (p.Asn237Ser)]

NM_000545.8(HNF1A):c.710A>G (p.Asn237Ser)

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.710A>G (p.Asn237Ser)

Other names:

NM_001306179.1:c.710A>G

HGVS:

NC_000012.12:g.120993703A>G
NG_011731.2:g.19958A>G
NM_000545.6:c.710A>G
NM_000545.8:c.710A>GMANE SELECT
NM_001306179.2:c.710A>G
NP_000536.6:p.Asn237Ser
NP_001293108.2:p.Asn237Ser
LRG_522:g.19958A>G
NC_000012.11:g.121431506A>G

Protein change:

N237S

Links:

dbSNP: rs1555211935

NCBI 1000 Genomes Browser:

rs1555211935

Molecular consequence:

NM_000545.8:c.710A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001306179.2:c.710A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004104431	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 10, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004104431

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 10, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV004104431.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The HNF1A c.710A>G variant is predicted to result in the amino acid substitution p.Asn237Ser. This variant has been reported in several individuals with a clinical history or diagnosis of MODY (Colclough et al 2013. PubMed ID: 23348805; Dallali et al. 2019. PubMed ID: 30656436). Alternative variants affecting the same amino acid (p.Asn237His and p.Asn237Asp) have also been reported in association with MODY (Human Gene Mutation Database; http://www.hgmd.cf.ac.uk/). This variant is interpreted as likely pathogenic by ClinGen Monogenic Diabetes Expert Panel (https://www.ncbi.nlm.nih.gov/clinvar/variation/1676710/). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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