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NM_004924.6(ACTN4):c.832G>A (p.Ala278Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 31, 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:
RCV002535745.2

Allele description [Variation Report for NM_004924.6(ACTN4):c.832G>A (p.Ala278Thr)]

NM_004924.6(ACTN4):c.832G>A (p.Ala278Thr)

Gene:
ACTN4:actinin alpha 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_004924.6(ACTN4):c.832G>A (p.Ala278Thr)
HGVS:
  • NC_000019.10:g.38714481G>A
  • NG_007082.2:g.71795G>A
  • NM_001322033.2:c.832G>A
  • NM_004924.6:c.832G>AMANE SELECT
  • NP_001308962.1:p.Ala278Thr
  • NP_004915.2:p.Ala278Thr
  • NC_000019.9:g.39205121G>A
  • NM_004924.4:c.832G>A
Protein change:
A278T
Links:
dbSNP: rs779765397
NCBI 1000 Genomes Browser:
rs779765397
Molecular consequence:
  • NM_001322033.2:c.832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004924.6:c.832G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003607245Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 31, 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, SCV003607245.2

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

Description

The c.832G>A (p.A278T) alteration is located in exon 9 (coding exon 9) of the ACTN4 gene. This alteration results from a G to A substitution at nucleotide position 832, causing the alanine (A) at amino acid position 278 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: May 1, 2024