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NM_000018.4(ACADVL):c.573_580delinsTTT (p.Gly193fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 23, 2017
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:
RCV000498991.1

Allele description [Variation Report for NM_000018.4(ACADVL):c.573_580delinsTTT (p.Gly193fs)]

NM_000018.4(ACADVL):c.573_580delinsTTT (p.Gly193fs)

Gene:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.4(ACADVL):c.573_580delinsTTT (p.Gly193fs)
HGVS:
  • NC_000017.11:g.7221633_7221640delinsTTT
  • NG_007975.1:g.6800_6807delinsTTT
  • NG_008391.2:g.3411_3418delinsAAA
  • NM_000018.4:c.573_580delinsTTTMANE SELECT
  • NM_001033859.3:c.507_514delinsTTT
  • NM_001270447.2:c.642_649delinsTTT
  • NM_001270448.2:c.345_352delinsTTT
  • NP_000009.1:p.Gly193fs
  • NP_001029031.1:p.Gly171fs
  • NP_001257376.1:p.Gly216fs
  • NP_001257377.1:p.Gly117fs
  • NC_000017.10:g.7124952_7124959delinsTTT
  • NM_000018.2:c.573_580delCTTTGGCAinsTTT
Protein change:
G117fs
Links:
dbSNP: rs1555528188
NCBI 1000 Genomes Browser:
rs1555528188
Molecular consequence:
  • NM_000018.4:c.573_580delinsTTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001033859.3:c.507_514delinsTTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001270447.2:c.642_649delinsTTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001270448.2:c.345_352delinsTTT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000589983GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(May 23, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000589983.3

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

Description

The c.573_580del8insTTT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.573_580del8insTTT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.573_580del8insTTT variant causes a frameshift starting with codon Glycine 193, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 58 of the new reading frame, denoted p.Gly193LysfsX58. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret this variant as likely pathogenic.

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

Last Updated: Apr 23, 2022