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NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) AND Autosomal dominant nonsyndromic hearing loss 20

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 12, 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:
RCV003137540.1

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]
Observations:
1

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 20
Synonyms:
Deafness, autosomal dominant 20
Identifiers:
MONDO: MONDO:0011480; MedGen: C1858172; Orphanet: 90635; OMIM: 604717

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003807306Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 12, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807306.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PS4 moderated, PM2 moderated, PM6 moderated, PP2 supporting, PP3 supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jun 9, 2024