NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Aug 13, 2020
Review status:: criteria provided, conflicting classifications

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:: RCV000077876.25

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]

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
SCV000109705	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Oct 22, 2015)	germline	clinical testing	Citation Link,
SCV001715541	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 13, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001812997	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Apr 8, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000109705

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Oct 22, 2015)

germline

clinical testing

Citation Link,

SCV001715541

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 13, 2020)

germline

clinical testing

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

SCV001812997

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Apr 8, 2020)

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	unknown	3	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

Details of each submission

From Eurofins Ntd Llc (ga), SCV000109705.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV001715541.1

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

From GeneDx, SCV001812997.1

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

Description

Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29247206, 27308838)

#	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: Oct 13, 2024

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