U.S. flag

An official website of the United States government

NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) AND Lissencephaly

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001291054.2

Allele description [Variation Report for NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)]

NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)

Gene:
ACTG1:actin gamma 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)
HGVS:
  • NC_000017.11:g.81511230G>A
  • NG_011433.1:g.6572C>T
  • NM_001199954.3:c.760C>T
  • NM_001614.5:c.760C>TMANE SELECT
  • NP_001186883.1:p.Arg254Trp
  • NP_001605.1:p.Arg254Trp
  • NC_000017.10:g.79478256G>A
  • NM_001614.3:c.760C>T
  • NR_037688.3:n.832C>T
  • P63261:p.Arg254Trp
Protein change:
R254W; ARG254TRP
Links:
UniProtKB: P63261#VAR_067818; UniProtKB/Swiss-Prot: VAR_067818; OMIM: 102560.0013; dbSNP: rs281875328
NCBI 1000 Genomes Browser:
rs281875328
Molecular consequence:
  • NM_001199954.3:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001614.5:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037688.3:n.832C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Lissencephaly
Synonyms:
Lissencephaly spectrum disorders
Identifiers:
MONDO: MONDO:0018838; MeSH: D054082; MedGen: C0266463; OMIM: PS607432; Human Phenotype Ontology: HP:0001339

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001479416University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenicunknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics., Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB.

Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19.

PubMed [citation]
PMID:
29671837
PMCID:
PMC6195491

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479416.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024