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NM_015162.5(ACSBG1):c.1093C>T (p.Arg365Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 27, 2023
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:
RCV004427654.1

Allele description [Variation Report for NM_015162.5(ACSBG1):c.1093C>T (p.Arg365Trp)]

NM_015162.5(ACSBG1):c.1093C>T (p.Arg365Trp)

Gene:
ACSBG1:acyl-CoA synthetase bubblegum family member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q25.1
Genomic location:
Preferred name:
NM_015162.5(ACSBG1):c.1093C>T (p.Arg365Trp)
HGVS:
  • NC_000015.10:g.78180915G>A
  • NM_001199377.2:c.1081C>T
  • NM_015162.5:c.1093C>TMANE SELECT
  • NP_001186306.1:p.Arg361Trp
  • NP_055977.3:p.Arg365Trp
  • NC_000015.9:g.78473257G>A
  • NM_015162.4:c.1093C>T
Protein change:
R361W
Molecular consequence:
  • NM_001199377.2:c.1081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015162.5:c.1093C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004919097Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 27, 2023) 		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, SCV004919097.1

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

Description

The c.1093C>T (p.R365W) alteration is located in exon 9 (coding exon 9) of the ACSBG1 gene. This alteration results from a C to T substitution at nucleotide position 1093, causing the arginine (R) at amino acid position 365 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024