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

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Apr 1, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000224275.6

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_000016.5:c.600-18G>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
Links:
dbSNP: rs370523609
NCBI 1000 Genomes Browser:
rs370523609
Molecular consequence:
  • NM_000016.5:c.600-18G>A - intron variant - [Sequence Ontology: SO:0001627]
  • 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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000280805Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Pathogenic
(Mar 31, 2015)
germlineclinical testing

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

SCV001133288Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Likely pathogenic
(Oct 3, 2019)
unknownclinical testing

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

SCV001894773GeneDxcriteria provided, single submitter
Pathogenic
(Apr 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.000488not providednot provided

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001894773.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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: 26223887, 27308838, 31012112, 30626930, 20434380, 27477829, 22630369)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2021

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