NM_000016.6(ACADM):c.1019C>T (p.Ala340Val) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jan 23, 2018
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:: RCV000378704.11

Allele description [Variation Report for NM_000016.6(ACADM):c.1019C>T (p.Ala340Val)]

NM_000016.6(ACADM):c.1019C>T (p.Ala340Val)

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.1019C>T (p.Ala340Val)

HGVS:

NC_000001.11:g.75761195C>T
NG_007045.2:g.41838C>T
NM_000016.6:c.1019C>TMANE SELECT
NM_001127328.3:c.1031C>T
NM_001286042.2:c.911C>T
NM_001286043.2:c.1118C>T
NM_001286044.2:c.452C>T
NP_000007.1:p.Ala340Val
NP_001120800.1:p.Ala344Val
NP_001272971.1:p.Ala304Val
NP_001272972.1:p.Ala373Val
NP_001272972.1:p.Ala373Val
NP_001272973.1:p.Ala151Val
LRG_838:g.41838C>T
NC_000001.10:g.76226880C>T
NM_000016.4:c.1019C>T
NM_001286043.1:c.1118C>T

Protein change:

A151V

Links:

dbSNP: rs886042054

NCBI 1000 Genomes Browser:

rs886042054

Molecular consequence:

NM_000016.6:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127328.3:c.1031C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001286042.2:c.911C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001286043.2:c.1118C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001286044.2:c.452C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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RNA-binding protein Hfq [Pseudomonas aeruginosa PA1R]
RNA-binding protein Hfq [Pseudomonas aeruginosa PA1R]
gi|557712567|gnl|DMTMMU|PA1R_gp2867 HA24593.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000330901	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Oct 22, 2015)	germline	clinical testing	Citation Link,
SCV000883330	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Jan 23, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000330901

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Oct 22, 2015)

germline

clinical testing

Citation Link,

SCV000883330

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Jan 23, 2018)

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	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000330901.4

#	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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000883330.1

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

Description

The ACADM c.1019C>T; p.Ala340Val variant (rs886042054), to our knowledge, is not reported in the medical literature or in gene-specific databases. The variant is listed in the ClinVar database (Variation ID: 280945). The variant is also listed in the Genome Aggregation Database in 1 out of 30966 alleles. The alanine at this position is well conserved across species and computational algorithms (PolyPhen2, SIFT) predict this variant is deleterious. Considering available information, there is insufficient evidence to classify this variant.

#	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		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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