NM_000016.6(ACADM):c.173_174del (p.Glu58fs) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 30, 2016
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:: RCV000410859.2

Allele description [Variation Report for NM_000016.6(ACADM):c.173_174del (p.Glu58fs)]

NM_000016.6(ACADM):c.173_174del (p.Glu58fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

1p31.1

Genomic location:

Preferred name:

NM_000016.6(ACADM):c.173_174del (p.Glu58fs)

HGVS:

NC_000001.11:g.75732694AG[2]
NG_007045.2:g.13337AG[2]
NM_000016.6:c.173_174delMANE SELECT
NM_001127328.3:c.185_186del
NM_001286042.2:c.65_66del
NM_001286043.2:c.173_174del
NM_001286044.2:c.-217AG[2]
NP_000007.1:p.Glu58fs
NP_001120800.1:p.Glu62fs
NP_001272971.1:p.Glu22fs
NP_001272972.1:p.Glu58fs
LRG_838:g.13337AG[2]
NC_000001.10:g.76198379AG[2]
NM_000016.4:c.173_174delAG

Protein change:

E22fs

Links:

dbSNP: rs1057517179

NCBI 1000 Genomes Browser:

rs1057517179

Molecular consequence:

NM_001286044.2:c.-217AG[2] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000016.6:c.173_174del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127328.3:c.185_186del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001286042.2:c.65_66del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001286043.2:c.173_174del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Medium-chain acyl-coenzyme A dehydrogenase deficiency (ACADMD)
Synonyms:: CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY; MCADD; Medium chain acyl-CoA dehydrogenase deficiency
Identifiers:: MONDO: MONDO:0008721; MedGen: C0220710; Orphanet: 42; OMIM: 201450

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000486875	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Aug 30, 2016)	unknown	clinical testing	mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000486875

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Aug 30, 2016)

unknown

clinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000486875.2

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

Last Updated: Dec 24, 2022

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