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NM_177398.4(LMX1A):c.937C>T (p.Arg313Ter) AND Autosomal dominant nonsyndromic hearing loss 7

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 31, 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:
RCV003230243.1

Allele description [Variation Report for NM_177398.4(LMX1A):c.937C>T (p.Arg313Ter)]

NM_177398.4(LMX1A):c.937C>T (p.Arg313Ter)

Genes:
LMX1A:LIM homeobox transcription factor 1 alpha [Gene - OMIM - HGNC]
LMX1A-AS2:LMX1A antisense RNA 2 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_177398.4(LMX1A):c.937C>T (p.Arg313Ter)
HGVS:
  • NC_000001.11:g.165205915G>A
  • NM_001174069.2:c.937C>T
  • NM_177398.4:c.937C>TMANE SELECT
  • NP_001167540.1:p.Arg313Ter
  • NP_796372.1:p.Arg313Ter
  • NC_000001.10:g.165175152G>A
Protein change:
R313*
Molecular consequence:
  • NM_001174069.2:c.937C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_177398.4:c.937C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 7
Synonyms:
Deafness, autosomal dominant 7
Identifiers:
MONDO: MONDO:0011074; MedGen: C1832379; Orphanet: 90635; OMIM: 601412

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003927974Department of Human Genetics, Hannover Medical School
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 31, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot 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 Department of Human Genetics, Hannover Medical School, SCV003927974.1

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

Description

This alteration leads to a premature stop signal, most likely resulting in degradation of the formed mRNA via nonsense-mediated mRNA decay (NMD) and/or expression of a truncated protein. The population database gnomAD reports an allele frequency of 0.002% for the variant (gnomAD; ALL). Literature data are currently not available.

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

Last Updated: Jun 3, 2023