NM_005327.7(HADH):c.456G>T (p.Gln152His) AND Hyperinsulinemic hypoglycemia, familial, 4

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 27, 2017
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:: RCV001143929.12

Allele description [Variation Report for NM_005327.7(HADH):c.456G>T (p.Gln152His)]

NM_005327.7(HADH):c.456G>T (p.Gln152His)

Gene:

HADH:hydroxyacyl-CoA dehydrogenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q25

Genomic location:

Preferred name:

NM_005327.7(HADH):c.456G>T (p.Gln152His)

HGVS:

NC_000004.12:g.108019576G>T
NG_008156.2:g.34793G>T
NM_001184705.2:c.456G>T
NM_001184705.4:c.456G>T
NM_001331027.2:c.468G>T
NM_005327.7:c.456G>TMANE SELECT
NP_001171634.3:p.Gln152His
NP_001317956.2:p.Gln156His
NP_005318.6:p.Gln152His
NC_000004.11:g.108940732G>T
NM_005327.4:c.456G>T
Q16836:p.Gln152His

Protein change:

Q152H

Links:

UniProtKB: Q16836#VAR_055701; dbSNP: rs1051519

NCBI 1000 Genomes Browser:

rs1051519

Molecular consequence:

NM_001184705.4:c.456G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001331027.2:c.468G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_005327.7:c.456G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hyperinsulinemic hypoglycemia, familial, 4 (HHF4)
Synonyms:: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Identifiers:: MONDO: MONDO:0012382; MedGen: C1864948; Orphanet: 71212; OMIM: 609975

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001304495	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 27, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001304495

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 27, 2017)

germline

clinical testing

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

Citation Link

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

Exome sequencing and genetic testing for MODY.

Johansson S, Irgens H, Chudasama KK, Molnes J, Aerts J, Roque FS, Jonassen I, Levy S, Lima K, Knappskog PM, Bell GI, Molven A, Njølstad PR.

PLoS One. 2012;7(5):e38050. doi: 10.1371/journal.pone.0038050. Epub 2012 May 25.

PubMed [citation]

PMID:: 22662265
PMCID:: PMC3360646

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001304495.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#	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: Nov 24, 2024

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