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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 24, 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:
RCV000664100.11

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:
Monogenic diabetes
Identifiers:
MONDO: MONDO:0015967; MedGen: C3888631

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000787552Personalized Diabetes Medicine Program, University of Maryland School of Medicine - Personalized Diabetes Medicine Program
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 24, 2017) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot providednot providednot providedresearch

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 Personalized Diabetes Medicine Program, University of Maryland School of Medicine - Personalized Diabetes Medicine Program, SCV000787552.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

ACMG Criteria:PP3 (3 predictors), BP4 (7 predictors)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024