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NM_001101.5(ACTB):c.589G>A (p.Gly197Ser) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 9, 2024
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:
RCV000624537.4

Allele description [Variation Report for NM_001101.5(ACTB):c.589G>A (p.Gly197Ser)]

NM_001101.5(ACTB):c.589G>A (p.Gly197Ser)

Gene:
ACTB:actin beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p22.1
Genomic location:
Preferred name:
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser)
HGVS:
  • NC_000007.14:g.5528494C>T
  • NG_007992.1:g.7108G>A
  • NM_001101.5:c.589G>AMANE SELECT
  • NP_001092.1:p.Gly197Ser
  • LRG_132t1:c.589G>A
  • LRG_132:g.7108G>A
  • NC_000007.13:g.5568125C>T
  • NM_001101.3:c.589G>A
Protein change:
G197S
Links:
dbSNP: rs1554329317
NCBI 1000 Genomes Browser:
rs1554329317
Molecular consequence:
  • NM_001101.5:c.589G>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
SCV000742860Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Feb 9, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Structure of the Complex of F-Actin and DNGR-1, a C-Type Lectin Receptor Involved in Dendritic Cell Cross-Presentation of Dead Cell-Associated Antigens.

Hanč P, Fujii T, Iborra S, Yamada Y, Huotari J, Schulz O, Ahrens S, Kjær S, Way M, Sancho D, Namba K, Reis e Sousa C.

Immunity. 2015 May 19;42(5):839-849. doi: 10.1016/j.immuni.2015.04.009. Epub 2015 May 12.

PubMed [citation]
PMID:
25979418
PMCID:
PMC5066845

Details of each submission

From Ambry Genetics, SCV000742860.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.589G>A (p.G197S) alteration is located in exon 4 (coding exon 3) of the ACTB gene. This alteration results from a G to A substitution at nucleotide position 589, causing the glycine (G) at amino acid position 197 to be replaced by a serine (S)._x000D_ _x000D_ for ACTB-related Baraitser-Winter syndrome; however, its clinical significance for ACTB-related pleiotropic malformation syndrome is uncertain. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been determined to be the result of a de novo mutation in an individual with features consistent with ACTB-related Baraitser-Winter syndrome (Ambry internal data). This amino acid position is highly conserved in available vertebrate species. The p.G197S amino acid is located in the actin domain and is more disruptive than nearby known pathogenic variants (Han, 2015). Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic.

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

Last Updated: Sep 29, 2024