NM_000018.4(ACADVL):c.1891dup (p.Tyr631fs) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 12, 2018
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:: RCV001266826.2

Allele description [Variation Report for NM_000018.4(ACADVL):c.1891dup (p.Tyr631fs)]

NM_000018.4(ACADVL):c.1891dup (p.Tyr631fs)

Gene:

ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000018.4(ACADVL):c.1891dup (p.Tyr631fs)

HGVS:

NC_000017.11:g.7225020dup
NG_007975.1:g.10187dup
NG_008391.2:g.31dup
NG_033038.1:g.14525dup
NM_000018.4:c.1891dupMANE SELECT
NM_001033859.3:c.1825dup
NM_001270447.2:c.1960dup
NM_001270448.2:c.1663dup
NP_000009.1:p.Tyr631fs
NP_001029031.1:p.Tyr609fs
NP_001257376.1:p.Tyr654fs
NP_001257377.1:p.Tyr555fs
NC_000017.10:g.7128339dup
NM_000018.2:c.1891dupT
NM_000018.3:c.1891dupT

Protein change:

Y555fs

Links:

dbSNP: rs2071412066

NCBI 1000 Genomes Browser:

rs2071412066

Molecular consequence:

NM_000018.4:c.1891dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001033859.3:c.1825dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001270447.2:c.1960dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001270448.2:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001445006	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Uncertain significance (Jan 12, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001445006

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Uncertain significance
(Jan 12, 2018)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
African American	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ.

Mol Genet Metab. 2015 Nov;116(3):139-45. doi: 10.1016/j.ymgme.2015.08.011. Epub 2015 Sep 2.

PubMed [citation]

PMID:: 26385305
PMCID:: PMC4790081

Details of each submission

From Ambry Genetics, SCV001445006.2

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

Last Updated: Jan 7, 2023

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