NM_080680.3(COL11A2):c.97G>A (p.Asp33Asn) AND Autosomal dominant nonsyndromic hearing loss 13

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 14, 2018
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:: RCV000790429.3

Allele description [Variation Report for NM_080680.3(COL11A2):c.97G>A (p.Asp33Asn)]

NM_080680.3(COL11A2):c.97G>A (p.Asp33Asn)

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.97G>A (p.Asp33Asn)

HGVS:

NC_000006.12:g.33189455C>T
NG_011589.1:g.8014G>A
NM_001163771.2:c.97G>A
NM_080679.3:c.97G>A
NM_080680.3:c.97G>AMANE SELECT
NM_080681.3:c.97G>A
NP_001157243.1:p.Asp33Asn
NP_542410.2:p.Asp33Asn
NP_542411.2:p.Asp33Asn
NP_542411.2:p.Asp33Asn
NP_542412.2:p.Asp33Asn
NC_000006.11:g.33157232C>T
NM_080680.2:c.97G>A

Protein change:

D33N

Links:

dbSNP: rs1268538634

Molecular consequence:

NM_001163771.2:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_080679.3:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_080680.3:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_080681.3:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal dominant nonsyndromic hearing loss 13
Identifiers:: MONDO: MONDO:0011159; MedGen: C1866095; Orphanet: 90635; OMIM: 601868

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000929756	MVZ Martinsried, Medicover Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 14, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000929756

MVZ Martinsried, Medicover Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 14, 2018)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 MVZ Martinsried, Medicover Genetics, SCV000929756.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 15, 2026

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