NM_080680.3(COL11A2):c.968dup (p.Ala324fs) AND Deafness, autosomal recessive 53

Clinical significance:Likely pathogenic (Last evaluated: May 7, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001004792.1

Allele description [Variation Report for NM_080680.3(COL11A2):c.968dup (p.Ala324fs)]

NM_080680.3(COL11A2):c.968dup (p.Ala324fs)

Gene:
COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6p21.32
Genomic location:
Preferred name:
NM_080680.3(COL11A2):c.968dup (p.Ala324fs)
HGVS:
  • NC_000006.12:g.33184296dup
  • NG_011589.1:g.13173dup
  • NM_080679.3:c.798+2331dup
  • NM_080680.3:c.968dupMANE SELECT
  • NM_080681.3:c.861+696dup
  • NP_542411.2:p.Ala324fs
  • NC_000006.11:g.33152073dup
  • NM_080680.2:c.967_968insC
Protein change:
A324fs
Links:
dbSNP: rs1583366400
NCBI 1000 Genomes Browser:
rs1583366400
Molecular consequence:
  • NM_080680.3:c.968dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_080679.3:c.798+2331dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080681.3:c.861+696dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Deafness, autosomal recessive 53 (DFNB53)
Identifiers:
MONDO: MONDO:0012333; MedGen: C1864746; Orphanet: 90636; OMIM: 609706

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001164278Laboratory of Prof. Karen Avraham,Tel Aviv Universitycriteria provided, single submitter
Likely pathogenic
(May 7, 2018)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Jewish Moroccangermlineyesnot providednot 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 Laboratory of Prof. Karen Avraham,Tel Aviv University, SCV001164278.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Jewish Moroccannot providednot providednot providedresearch PubMed (1)

Description

Recessive, compound heterozygous with NM_080680.2:[c.3385G >A]; congenital, moderate-severe high tone NSHL

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

Last Updated: Nov 27, 2021

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