NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) AND Maturity-onset diabetes of the young type 3

Germline classification:: Benign (2 submissions)
Last evaluated:: Aug 10, 2021
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:: RCV000030490.12

Allele description [Variation Report for NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)]

NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)

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.1720A>G (p.Ser574Gly)

Other names:

NM_000545.8(HNF1A):c.1720A>G

HGVS:

NC_000012.12:g.120999579A>G
NG_011731.2:g.25834=
NM_000545.8:c.1720A>GMANE SELECT
NM_001306179.2:c.1741A>G
NP_000536.6:p.Ser574Gly
NP_001293108.2:p.Ser581Gly
LRG_522t1:c.1720G=
LRG_522:g.25834=
NC_000012.11:g.121437382A>G
NM_000545.5:c.1720G=
p.Ser574Gly

Protein change:

S574G

Links:

dbSNP: rs1169305

NCBI 1000 Genomes Browser:

rs1169305

Molecular consequence:

NM_000545.8:c.1720A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001306179.2:c.1741A>G - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000053160	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	no classification provided	not provided	germline	clinical testing
SCV001933074	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 10, 2021)	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

SCV000053160

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

no classification provided

not provided

germline

clinical testing

SCV001933074

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Aug 10, 2021)

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	no	not provided	not provided	not provided	not provided	not provided	clinical testing
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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000053160.2

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome-Nilou Lab, SCV001933074.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 14, 2024

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