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NM_080680.3(COL11A2):c.2682+26A>C AND Autosomal recessive nonsyndromic hearing loss 53

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 22, 2021
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:
RCV001582886.2

Allele description [Variation Report for NM_080680.3(COL11A2):c.2682+26A>C]

NM_080680.3(COL11A2):c.2682+26A>C

Gene:
COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.32
Genomic location:
Preferred name:
NM_080680.3(COL11A2):c.2682+26A>C
HGVS:
  • NC_000006.12:g.33173476T>G
  • NG_011589.1:g.23993A>C
  • NM_080679.3:c.2361+26A>C
  • NM_080680.3:c.2682+26A>CMANE SELECT
  • NM_080681.3:c.2424+26A>C
  • NC_000006.11:g.33141253T>G
  • NM_080680.2:c.2682+26A>C
Links:
dbSNP: rs9277932
NCBI 1000 Genomes Browser:
rs9277932
Molecular consequence:
  • NM_080679.3:c.2361+26A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080680.3:c.2682+26A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080681.3:c.2424+26A>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 53
Synonyms:
Deafness, autosomal recessive 53
Identifiers:
MONDO: MONDO:0012333; MedGen: C1864746; Orphanet: 90636; OMIM: 609706

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001821693Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 22, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV001821693.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 10, 2024