NM_000016.6(ACADM):c.1159G>C (p.Val387Leu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 27, 2023
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:: RCV003298424.2

Allele description [Variation Report for NM_000016.6(ACADM):c.1159G>C (p.Val387Leu)]

NM_000016.6(ACADM):c.1159G>C (p.Val387Leu)

Gene:

ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.1

Genomic location:

Preferred name:

NM_000016.6(ACADM):c.1159G>C (p.Val387Leu)

HGVS:

NC_000001.11:g.75761335G>C
NG_007045.2:g.41978G>C
NM_000016.6:c.1159G>CMANE SELECT
NM_001127328.3:c.1171G>C
NM_001286042.2:c.1051G>C
NM_001286043.2:c.1258G>C
NM_001286044.2:c.592G>C
NP_000007.1:p.Val387Leu
NP_001120800.1:p.Val391Leu
NP_001272971.1:p.Val351Leu
NP_001272972.1:p.Val420Leu
NP_001272973.1:p.Val198Leu
LRG_838:g.41978G>C
NC_000001.10:g.76227020G>C
NM_000016.4:c.1159G>C

Protein change:

V198L

Links:

dbSNP: rs1057518630

NCBI 1000 Genomes Browser:

rs1057518630

Molecular consequence:

NM_000016.6:c.1159G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127328.3:c.1171G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001286042.2:c.1051G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001286043.2:c.1258G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001286044.2:c.592G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004001286	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 27, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004001286

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 27, 2023)

germline

clinical testing

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

Details of each submission

From Ambry Genetics, SCV004001286.2

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

Description

The p.V387L variant (also known as c.1159G>C), located in coding exon 11 of the ACADM gene, results from a G to C substitution at nucleotide position 1159. The valine at codon 387 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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