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NM_005622.4(ACSM3):c.826T>A (p.Ser276Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 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:
RCV004154299.1

Allele description [Variation Report for NM_005622.4(ACSM3):c.826T>A (p.Ser276Thr)]

NM_005622.4(ACSM3):c.826T>A (p.Ser276Thr)

Genes:
ERI2:ERI1 exoribonuclease family member 2 [Gene - HGNC]
ACSM3:acyl-CoA synthetase medium chain family member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.3
Genomic location:
Preferred name:
NM_005622.4(ACSM3):c.826T>A (p.Ser276Thr)
HGVS:
  • NC_000016.10:g.20781017T>A
  • NM_005622.4:c.826T>AMANE SELECT
  • NM_080663.3:c.895-283A>T
  • NM_202000.3:c.826T>A
  • NP_005613.2:p.Ser276Thr
  • NP_973729.1:p.Ser276Thr
  • NC_000016.9:g.20792339T>A
  • NM_005622.3:c.826T>A
Protein change:
S276T
Molecular consequence:
  • NM_080663.3:c.895-283A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005622.4:c.826T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_202000.3:c.826T>A - 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
SCV003634845Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 14, 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, SCV003634845.2

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

Description

The c.826T>A (p.S276T) alteration is located in exon 6 (coding exon 5) of the ACSM3 gene. This alteration results from a T to A substitution at nucleotide position 826, causing the serine (S) at amino acid position 276 to be replaced by a threonine (T). 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: Oct 26, 2024