NM_000016.6(ACADM):c.423_425del (p.Lys144del) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 2, 2024
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:: RCV000297824.5

Allele description [Variation Report for NM_000016.6(ACADM):c.423_425del (p.Lys144del)]

NM_000016.6(ACADM):c.423_425del (p.Lys144del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1p31.1

Genomic location:

Preferred name:

NM_000016.6(ACADM):c.423_425del (p.Lys144del)

HGVS:

NC_000001.11:g.75734826_75734828del
NG_007045.2:g.15469_15471del
NM_000016.4:c.423_425del
NM_000016.6:c.423_425delMANE SELECT
NM_001127328.3:c.435_437del
NM_001286042.2:c.315_317del
NM_001286043.2:c.522_524del
NM_001286044.2:c.-100+1904_-100+1906del
NP_000007.1:p.Lys144del
NP_000007.1:p.Lys144del
NP_001120800.1:p.Lys148del
NP_001272971.1:p.Lys108del
NP_001272972.1:p.Lys177del
LRG_838t1:c.423_425del
LRG_838:g.15469_15471del
LRG_838p1:p.Lys144del
NC_000001.10:g.76200510_76200512del
NC_000001.10:g.76200511_76200513del
NM_000016.5:c.423_425del

Protein change:

K108del

Links:

dbSNP: rs886042087

NCBI 1000 Genomes Browser:

rs886042087

Molecular consequence:

NM_000016.6:c.423_425del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001127328.3:c.435_437del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001286042.2:c.315_317del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001286043.2:c.522_524del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001286044.2:c.-100+1904_-100+1906del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000331160	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Oct 2, 2015)	germline	clinical testing	Citation Link,
SCV005372520	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 2, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000331160

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Oct 2, 2015)

germline

clinical testing

Citation Link,

SCV005372520

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 2, 2024)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000331160.4

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

From GeneDx, SCV005372520.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports a deleterious effect on protein structure/function; In-frame deletion of 1 amino acids in a non-repeat region; Also known as p.(K119del); This variant is associated with the following publications: (PMID: 20434380, 23028790, 21083904, 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 20, 2024

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