NM_005327.7(HADH):c.614G>C (p.Gly205Ala) AND Monogenic diabetes

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 21, 2018
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:: RCV001174482.3

Allele description [Variation Report for NM_005327.7(HADH):c.614G>C (p.Gly205Ala)]

NM_005327.7(HADH):c.614G>C (p.Gly205Ala)

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.614G>C (p.Gly205Ala)

HGVS:

NC_000004.12:g.108023541G>C
NG_008156.2:g.38758G>C
NM_001184705.2:c.614G>C
NM_001184705.4:c.614G>C
NM_001331027.2:c.626G>C
NM_005327.7:c.614G>CMANE SELECT
NP_001171634.3:p.Gly205Ala
NP_001317956.2:p.Gly209Ala
NP_005318.6:p.Gly205Ala
NC_000004.11:g.108944697G>C
NM_005327.4:c.614G>C

Protein change:

G205A

Links:

dbSNP: rs144699575

NCBI 1000 Genomes Browser:

rs144699575

Molecular consequence:

NM_001184705.4:c.614G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001331027.2:c.626G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_005327.7:c.614G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001337621	Personalized Diabetes Medicine Program, University of Maryland School of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 21, 2018)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001337621

Personalized Diabetes Medicine Program, University of Maryland School of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 21, 2018)

unknown

research

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	1	not provided	not provided	not provided	not provided	research

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, SCV001337621.1

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

Description

ACMG criteria: PP3 (0.751 +10 predictors)= VUS

#	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		1	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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