NM_000016.6(ACADM):c.600-18G>A AND not provided

Germline classification:: Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:: Aug 17, 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:: RCV000224275.8

Allele description [Variation Report for NM_000016.6(ACADM):c.600-18G>A]

NM_000016.6(ACADM):c.600-18G>A

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.600-18G>A

HGVS:

NC_000001.11:g.75745788G>A
NG_007045.2:g.26431G>A
NM_000016.6:c.600-18G>AMANE SELECT
NM_001127328.3:c.612-18G>A
NM_001286042.2:c.492-18G>A
NM_001286043.2:c.699-18G>A
NM_001286044.2:c.33-18G>A
LRG_838t1:c.600-18G>A
LRG_838:g.26431G>A
NC_000001.10:g.76211473G>A
NM_000016.4:c.600-18G>A
NM_000016.5:c.600-18G>A
NM_001286043.1:c.699-18G>A

Links:

dbSNP: rs370523609

NCBI 1000 Genomes Browser:

rs370523609

Molecular consequence:

NM_000016.6:c.600-18G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001127328.3:c.612-18G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001286042.2:c.492-18G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001286043.2:c.699-18G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001286044.2:c.33-18G>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000280805	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 31, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001133288	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely pathogenic (Oct 3, 2019)	unknown	clinical testing	PubMed (7) [See all records that cite these PMIDs] 22630369, 20434380, 26223887, 31012112, 27308838, 27477829, 26467025
SCV001894773	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Aug 17, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000280805

Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 31, 2015)

germline

clinical testing

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

SCV001133288

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely pathogenic
(Oct 3, 2019)

unknown

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

SCV001894773

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Aug 17, 2022)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	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

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

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.

Touw CM, Smit GP, de Vries M, de Klerk JB, Bosch AM, Visser G, Mulder MF, Rubio-Gozalbo ME, Elvers B, Niezen-Koning KE, Wanders RJ, Waterham HR, Reijngoud DJ, Derks TG.

Orphanet J Rare Dis. 2012 May 25;7:30. doi: 10.1186/1750-1172-7-30.

PubMed [citation]

PMID:: 22630369
PMCID:: PMC3543239

See all PubMed Citations (8)

Details of each submission

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000280805.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	0.000488	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133288.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

The gain of a new splice site is predicted. Nucleotide conservation is uninformative. Occurs in multiple cases with a lone recessive pathogenic variant in the same gene. Assessment of experimental evidence suggests this variant results in abnormal protein function.

#	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

From GeneDx, SCV001894773.3

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

Description

Published functional studies suggest this variant leads to partial mis-splicing of the ACADM pre-mRNA (Grunert et al., 2015); This variant is associated with the following publications: (PMID: 22630369, 20434380, 27308838, 27477829, 26223887, 31012112, 30626930, 34426522, 32778825)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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