NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 2, 2022
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:: RCV002488089.3

Allele description [Variation Report for NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro)]

NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro)

Gene:

HNF4A:hepatocyte nuclear factor 4 alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

Preferred name:

NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro)

HGVS:

NC_000020.11:g.44413732T>C
NG_009818.1:g.62932T>C
NM_000457.6:c.424T>C
NM_001030003.3:c.358T>C
NM_001030004.3:c.358T>C
NM_001258355.2:c.403T>C
NM_001287182.2:c.349T>C
NM_001287183.2:c.349T>C
NM_001287184.2:c.349T>C
NM_175914.5:c.358T>CMANE SELECT
NM_178849.3:c.424T>C
NM_178850.3:c.424T>C
NP_000448.3:p.Ser142Pro
NP_000448.3:p.Ser142Pro
NP_001025174.1:p.Ser120Pro
NP_001025175.1:p.Ser120Pro
NP_001245284.1:p.Ser135Pro
NP_001274111.1:p.Ser117Pro
NP_001274112.1:p.Ser117Pro
NP_001274113.1:p.Ser117Pro
NP_787110.2:p.Ser120Pro
NP_849180.1:p.Ser142Pro
NP_849181.1:p.Ser142Pro
LRG_483t1:c.358T>C
LRG_483t2:c.424T>C
LRG_483:g.62932T>C
LRG_483p2:p.Ser142Pro
NC_000020.10:g.43042372T>C
NC_000020.10:g.43042372T>C
NM_000457.4:c.424T>C
NM_175914.4:c.358T>C

Protein change:

S117P

Links:

dbSNP: rs780342162

NCBI 1000 Genomes Browser:

rs780342162

Molecular consequence:

NM_000457.6:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001030003.3:c.358T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001030004.3:c.358T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001258355.2:c.403T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001287182.2:c.349T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001287183.2:c.349T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001287184.2:c.349T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_175914.5:c.358T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_178849.3:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_178850.3:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Maturity-onset diabetes of the young type 1
Synonyms:: MILD JUVENILE DIABETES MELLITUS; MODY type 1; Diabetes mellitus MODY type 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007452; MedGen: C1852093; Orphanet: 552; OMIM: 125850

Name:: Type 2 diabetes mellitus
Synonyms:: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
Identifiers:: MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978

Name:: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young (FRTS4)
Synonyms:: FRTS4 WITH MODY
Identifiers:: MONDO: MONDO:0014458; MedGen: C4014962; Orphanet: 93111; OMIM: 616026

Recent activity

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Rattus norvegicus mitochondrial genome maintenance exonuclease 1 (Mgme1), transc...
Rattus norvegicus mitochondrial genome maintenance exonuclease 1 (Mgme1), transcript variant 2, mRNA; nuclear gene for mitochondrial product
gi|2771821151|ref|NM_001009655.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002781276	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 2, 2022)	unknown	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

SCV002781276

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 2, 2022)

unknown

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	unknown	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 Fulgent Genetics, Fulgent Genetics, SCV002781276.1

#	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	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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