NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys) AND Maturity-onset diabetes of the young type 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 1997
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000016067.23

Allele description [Variation Report for NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys)]

NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys)

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.365A>G (p.Tyr122Cys)

Other names:

NM_000545.6(HNF1A):c.365A>G; p.Tyr122Cys

HGVS:

NC_000012.12:g.120988871A>G
NG_011731.2:g.15126A>G
NM_000545.8:c.365A>GMANE SELECT
NM_001306179.2:c.365A>G
NP_000536.6:p.Tyr122Cys
NP_001293108.2:p.Tyr122Cys
LRG_522:g.15126A>G
NC_000012.11:g.121426674A>G

Protein change:

Y122C; TYR122CYS

Links:

OMIM: 142410.0004; dbSNP: rs137853237

NCBI 1000 Genomes Browser:

rs137853237

Molecular consequence:

NM_000545.8:c.365A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001306179.2:c.365A>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
SCV000036335	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 1997)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036335

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 1997)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).

Vaxillaire M, Rouard M, Yamagata K, Oda N, Kaisaki PJ, Boriraj VV, Chevre JC, Boccio V, Cox RD, Lathrop GM, Dussoix P, Philippe J, Timsit J, Charpentier G, Velho G, Bell GI, Froguel P.

Hum Mol Genet. 1997 Apr;6(4):583-6.

PubMed [citation]

PMID:: 9097962

Details of each submission

From OMIM, SCV000036335.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a family with multiple members with MODY3 (600496) in 3 generations, Vaxillaire et al. (1997) found a TAC-to-TGC transition in codon 122 of the TCF1 gene, predicted to cause an amino acid change from tyrosine to cysteine (Y122C).

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

Last Updated: Feb 20, 2024

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