NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) AND Epileptic spasm

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001526621.11

Allele description [Variation Report for NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)]

NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)

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.985A>G (p.Lys329Glu)

Other names:

K304E; 985A>G; c.985A>G (p.K304E); p.K329E:AAA>GAA; MC K329e

HGVS:

NC_000001.11:g.75761161A>G
NG_007045.2:g.41804A>G
NM_000016.6:c.985A>GMANE SELECT
NM_000016.6:c.985A>G
NM_001127328.2:c.997A>G
NM_001127328.3:c.997A>G
NM_001286042.2:c.877A>G
NM_001286043.2:c.1084A>G
NM_001286044.2:c.418A>G
NP_000007.1:p.Lys329Glu
NP_001120800.1:p.Lys333Glu
NP_001272971.1:p.Lys293Glu
NP_001272972.1:p.Lys362Glu
NP_001272972.1:p.Lys362Glu
NP_001272973.1:p.Lys140Glu
LRG_838t1:c.985A>G
LRG_838:g.41804A>G
LRG_838p1:p.Lys329Glu
NC_000001.10:g.76226846A>G
NC_000001.11:g.75761161A>G
NM_000016.4:c.985A>G
NM_000016.5:c.985A>G
NM_001127328.1:c.997A>G
NM_001286043.1:c.1084A>G

Protein change:

K140E; LYS304GLU

Links:

OMIM: 607008.0001; dbSNP: rs77931234

NCBI 1000 Genomes Browser:

rs77931234

Molecular consequence:

NM_000016.6:c.985A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127328.3:c.997A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001286042.2:c.877A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001286043.2:c.1084A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001286044.2:c.418A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Epileptic spasm
Synonyms:: Epileptic spasms
Identifiers:: MedGen: C1527366; Human Phenotype Ontology: HP:0011097

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001737051	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001737051

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

maternal

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	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

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001737051.1

#	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	maternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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