NM_001614.3(ACTG1):c.791C>T (p.Pro264Leu) AND Deafness, autosomal dominant 20

Clinical significance:Pathogenic (Last evaluated: Nov 1, 2003)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000019983.28

Allele description [Variation Report for NM_001614.3(ACTG1):c.791C>T (p.Pro264Leu)]

NM_001614.3(ACTG1):c.791C>T (p.Pro264Leu)

Gene:
ACTG1:actin gamma 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_001614.3(ACTG1):c.791C>T (p.Pro264Leu)
HGVS:
  • NC_000017.11:g.81511199G>A
  • NG_011433.1:g.6603C>T
  • NM_001614.3:c.791C>T
  • NP_001605.1:p.Pro264Leu
  • NC_000017.10:g.79478225G>A
  • NR_037688.1:n.930C>T
  • P63261:p.Pro264Leu
Protein change:
P264L; PRO264LEU
Links:
UniProtKB: P63261#VAR_032436; OMIM: 102560.0004; dbSNP: rs104894546
NCBI 1000 Genomes Browser:
rs104894546
Molecular consequence:
  • NM_001614.3:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037688.1:n.930C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Deafness, autosomal dominant 20 (DFNA20)
Identifiers:
MedGen: C1858172; Orphanet: 90635; OMIM: 604717

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000040281OMIMno assertion criteria providedPathogenic
(Nov 1, 2003)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval.

DeWan AT, Parrado AR, Leal SM.

Clin Genet. 2003 Jan;63(1):39-45.

PubMed [citation]
PMID:
12519370
PMCID:
PMC6143177

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH.

Am J Hum Genet. 2003 Nov;73(5):1082-91. Epub 2003 Sep 16.

PubMed [citation]
PMID:
13680526
PMCID:
PMC1180488

Details of each submission

From OMIM, SCV000040281.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 11 affected members of a family segregating autosomal dominant progressive sensorineural hearing loss (604717) reported by DeWan et al. (2003), Zhu et al. (2003) identified a pro264-to-leu (P264L) missense mutation in the gamma-actin gene. P264L is in a proposed hydrophobic plug for interstrand interactions in subdomain 4 of the protein, near the actin self-assembly site. Affected members had an early age at onset and rapid progression of hearing loss.

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

Last Updated: Sep 21, 2018