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NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter) AND Hearing loss, autosomal dominant 37

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 19, 2024
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:
RCV003985698.1

Allele description [Variation Report for NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter)]

NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter)

Gene:
COL11A1:collagen type XI alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Inversion
Cytogenetic location:
1p21.1
Genomic location:
Preferred name:
NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter)
HGVS:
  • NC_000001.11:g.103015681_103015683inv
  • NG_008033.2:g.97814_97816inv
  • NM_001168249.1:c.1125_1127invTAT
  • NM_001190709.2:c.1356_1358inv
  • NM_001854.4:c.1473_1475invMANE SELECT
  • NM_080629.3:c.1509_1511inv
  • NM_080630.4:c.1125_1127inv
  • NP_001161721.1:p.Met376Ter
  • NP_001177638.1:p.Met453Ter
  • NP_001845.3:p.Met492Ter
  • NP_542196.2:p.Met504Ter
  • NP_542197.3:p.Met376Ter
  • NC_000001.10:g.103481237_103481239inv
  • NR_134980.2:n.1817_1819inv
Protein change:
M376*
Molecular consequence:
  • NR_134980.2:n.1817_1819inv - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001168249.1:c.1125_1127invTAT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001190709.2:c.1356_1358inv - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001854.4:c.1473_1475inv - nonsense - [Sequence Ontology: SO:0001587]
  • NM_080629.3:c.1509_1511inv - nonsense - [Sequence Ontology: SO:0001587]
  • NM_080630.4:c.1125_1127inv - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Hearing loss, autosomal dominant 37
Synonyms:
Deafness, autosomal dominant 37
Identifiers:
MONDO: MONDO:0032802; MedGen: C4760307; OMIM: 618533

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004801422Institute of Human Genetics, University of Goettingen
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Mar 19, 2024)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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 Institute of Human Genetics, University of Goettingen, SCV004801422.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

The variant c.1473_1475inv (p.(Met492*)) in exon 12 of the COL11A1 gene is not found in the gnomAD database and changes the protein sequence at position 492 and interrupts the reading frame prematurely. Truncating variants in the COL11A1 gene are a known mechanism of disease. ACMG criteria used for classification: PVS1, PM2_sup.

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

Last Updated: Mar 30, 2024