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NM_000018.4(ACADVL):c.1284G>A (p.Lys428=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 9, 2022
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:
RCV002381258.9

Allele description [Variation Report for NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)]

NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)

Gene:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)
HGVS:
  • NC_000017.11:g.7223827G>A
  • NG_007975.1:g.8994G>A
  • NG_008391.2:g.1224C>T
  • NG_033038.1:g.15718C>T
  • NM_000018.4:c.1284G>AMANE SELECT
  • NM_001033859.3:c.1218G>A
  • NM_001270447.2:c.1353G>A
  • NM_001270448.2:c.1056G>A
  • NP_000009.1:p.Lys428=
  • NP_001029031.1:p.Lys406=
  • NP_001257376.1:p.Lys451=
  • NP_001257377.1:p.Lys352=
  • NC_000017.10:g.7127146G>A
  • NM_000018.2:c.1284G>A
  • NM_000018.3:c.1284G>A
Links:
dbSNP: rs35501596
NCBI 1000 Genomes Browser:
rs35501596
Molecular consequence:
  • NM_000018.4:c.1284G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001033859.3:c.1218G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001270447.2:c.1353G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001270448.2:c.1056G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002690081Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Apr 9, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002690081.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024