NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 6, 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:: RCV002515750.9

Allele description [Variation Report for NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr)]

NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr)

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.1091T>C (p.Ile364Thr)

HGVS:

NC_000001.11:g.75761267T>C
NG_007045.2:g.41910T>C
NM_000016.6:c.1091T>CMANE SELECT
NM_001127328.3:c.1103T>C
NM_001286042.2:c.983T>C
NM_001286043.2:c.1190T>C
NM_001286044.2:c.524T>C
NP_000007.1:p.Ile364Thr
NP_000007.1:p.Ile364Thr
NP_001120800.1:p.Ile368Thr
NP_001272971.1:p.Ile328Thr
NP_001272972.1:p.Ile397Thr
NP_001272973.1:p.Ile175Thr
LRG_838t1:c.1091T>C
LRG_838:g.41910T>C
LRG_838p1:p.Ile364Thr
NC_000001.10:g.76226952T>C
NM_000016.4:c.1091T>C
NM_000016.5:c.1091T>C

Protein change:

I175T

Links:

dbSNP: rs150710061

NCBI 1000 Genomes Browser:

rs150710061

Molecular consequence:

NM_000016.6:c.1091T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127328.3:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001286042.2:c.983T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001286043.2:c.1190T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001286044.2:c.524T>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
SCV003664969	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 6, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 29247206, 33580884 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003664969

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 6, 2022)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.

Boemer F, Fasquelle C, d'Otreppe S, Josse C, Dideberg V, Segers K, Guissard V, Capraro V, Debray FG, Bours V.

Sci Rep. 2017 Dec 15;7(1):17641. doi: 10.1038/s41598-017-18038-x.

PubMed [citation]

PMID:: 29247206
PMCID:: PMC5732277

Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?

Tucci S, Wagner C, Grünert SC, Matysiak U, Weinhold N, Klein J, Porta F, Spada M, Bordugo A, Rodella G, Furlan F, Sajeva A, Menni F, Spiekerkoetter U.

J Inherit Metab Dis. 2021 Jul;44(4):916-925. doi: 10.1002/jimd.12368. Epub 2021 Feb 25.

PubMed [citation]

PMID:: 33580884

Details of each submission

From Ambry Genetics, SCV003664969.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The c.1091T>C (p.I364T) alteration is located in exon 11 (coding exon 11) of the ACADM gene. This alteration results from a T to C substitution at nucleotide position 1091, causing the isoleucine (I) at amino acid position 364 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, 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: Jun 23, 2024

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