U.S. flag

An official website of the United States government

NM_001145809.2(MYH14):c.547C>T (p.Arg183Trp) AND Autosomal dominant nonsyndromic hearing loss 4A

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 2, 2023
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:
RCV003233343.1

Allele description [Variation Report for NM_001145809.2(MYH14):c.547C>T (p.Arg183Trp)]

NM_001145809.2(MYH14):c.547C>T (p.Arg183Trp)

Gene:
MYH14:myosin heavy chain 14 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_001145809.2(MYH14):c.547C>T (p.Arg183Trp)
HGVS:
  • NC_000019.10:g.50217756C>T
  • NG_011645.1:g.19129C>T
  • NM_001077186.2:c.547C>T
  • NM_001145809.2:c.547C>TMANE SELECT
  • NM_024729.4:c.547C>T
  • NP_001070654.1:p.Arg183Trp
  • NP_001139281.1:p.Arg183Trp
  • NP_079005.3:p.Arg183Trp
  • NC_000019.9:g.50721013C>T
  • NM_024729.3:c.547C>T
Protein change:
R183W
Molecular consequence:
  • NM_001077186.2:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145809.2:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024729.4:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 4A
Synonyms:
Deafness, autosomal dominant 4; Deafness, autosomal dominant 4A
Identifiers:
MONDO: MONDO:0010915; MedGen: C1833503; Orphanet: 90635; OMIM: 600652

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
SCV003928164Miami Human Genetics, University Of Miami Miller School Of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 2, 2023) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

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 Miami Human Genetics, University Of Miami Miller School Of Medicine, SCV003928164.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 25, 2023