NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) AND Maturity-onset diabetes of the young type 3

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 28, 2019
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:: RCV000988921.1

Allele description [Variation Report for NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)]

NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)

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.716C>T (p.Ala239Val)

HGVS:

NC_000012.12:g.120994166C>T
NG_011731.2:g.20421C>T
NM_000545.8:c.716C>TMANE SELECT
NM_001306179.2:c.716C>T
NP_000536.6:p.Ala239Val
NP_001293108.2:p.Ala239Val
LRG_522t1:c.716C>T
LRG_522:g.20421C>T
NC_000012.11:g.121431969C>T
NM_000545.5:c.716C>T

Protein change:

A239V

Links:

dbSNP: rs587778397

NCBI 1000 Genomes Browser:

rs587778397

Molecular consequence:

NM_000545.8:c.716C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001306179.2:c.716C>T - missense variant - [Sequence Ontology: SO:0001583]

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

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SGS3 XS domain-containing protein / XS zinc finger domain-containing protein-lik...
SGS3 XS domain-containing protein / XS zinc finger domain-containing protein-like protein [Arabidopsis thaliana]
Gene ID:832422

Gene
832422[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001138841	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Uncertain significance (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001138841

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Uncertain significance
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV001138841.1

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

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

Last Updated: Sep 29, 2024

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