NM_000016.6(ACADM):c.449_452del (p.Thr150fs) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 22, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000723370.8

Allele description [Variation Report for NM_000016.6(ACADM):c.449_452del (p.Thr150fs)]

NM_000016.6(ACADM):c.449_452del (p.Thr150fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1p31.1

Genomic location:

Preferred name:

NM_000016.6(ACADM):c.449_452del (p.Thr150fs)

HGVS:

NC_000001.11:g.75734852_75734855del
NG_007045.2:g.15495_15498del
NM_000016.6:c.449_452delMANE SELECT
NM_001127328.3:c.461_464del
NM_001286042.2:c.341_344del
NM_001286043.2:c.548_551del
NM_001286044.2:c.-100+1930_-100+1933del
NP_000007.1:p.Thr150fs
NP_000007.1:p.Thr150fs
NP_001120800.1:p.Thr154fs
NP_001272971.1:p.Thr114fs
NP_001272972.1:p.Thr183fs
LRG_838t1:c.449_452del
LRG_838:g.15495_15498del
LRG_838p1:p.Thr150fs
NC_000001.10:g.76200534_76200537del
NC_000001.10:g.76200537_76200540del
NM_000016.4:c.446_449delTGAC
NM_000016.4:c.449_452delCTGA
NM_000016.5:c.449_452del
NM_000016.5:c.449_452delCTGA
NM_000016.6:c.449_452delCTGAMANE SELECT

Protein change:

T114fs

Links:

OMIM: 607008.0016; dbSNP: rs786204642

NCBI 1000 Genomes Browser:

rs786204642

Molecular consequence:

NM_000016.6:c.449_452del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127328.3:c.461_464del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001286042.2:c.341_344del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001286043.2:c.548_551del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001286044.2:c.-100+1930_-100+1933del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000700258	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Mar 2, 2017)	germline	clinical testing	Citation Link,
SCV004220052	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Dec 22, 2022)	unknown	clinical testing	PubMed (12) [See all records that cite these PMIDs] 22796001, 27856190, 33841490, 19064330, 22542437, 18241067, 21239873, 15915086, 24966162, 25503862, 26947917, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000700258

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Mar 2, 2017)

germline

clinical testing

Citation Link,

SCV004220052

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Dec 22, 2022)

unknown

clinical testing

PubMed (12)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency.

Purevsuren J, Hasegawa Y, Fukuda S, Kobayashi H, Mushimoto Y, Yamada K, Takahashi T, Fukao T, Yamaguchi S.

Mol Genet Metab. 2012 Sep;107(1-2):237-40. doi: 10.1016/j.ymgme.2012.06.010. Epub 2012 Jun 26.

PubMed [citation]

PMID:: 22796001

Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.

Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Hata I, Shigematsu Y, Kobayashi M.

Mol Genet Metab. 2016 Dec;119(4):322-328. doi: 10.1016/j.ymgme.2016.10.007. Epub 2016 Oct 21.

PubMed [citation]

PMID:: 27856190

See all PubMed Citations (12)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000700258.2

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

#	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		1	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004220052.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (12)

Description

This frameshift variant alters the translational reading frame of the ACADM mRNA and causes the premature termination of ACADM protein synthesis. The frequency of this variant in the general population, 0.00027 (5/18392 chromosomes, http://gnomad.broadinstitute.org), is consistent with pathogenicity. In the published literature, the variant has been reported in individuals with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (PMID: 15915086 (2005), 19064330 (2009), 21239873 (2011), 22796001 (2012), 25503862 (2015), 27856190 (2016), and 33841490 (2021)). Based on the available information, this variant is classified as pathogenic.

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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