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NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 24, 2019)
Last evaluated:
May 7, 2018
Accession:
VCV000813821.1
Variation ID:
813821
Description:
single nucleotide variant
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NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg)

Allele ID
802072
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p21.32
Genomic location
6: 33170899 (GRCh38) GRCh38 UCSC
6: 33138676 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.33138676C>T
NC_000006.12:g.33170899C>T
NG_011589.1:g.26570G>A
... more HGVS
Protein change
G1129R, G1022R, G1043R
Other names
-
Canonical SPDI
NC_000006.12:33170898:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
1000 Genomes Project 0.00020
Links
dbSNP: rs550153707
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 7, 2018 RCV001004793.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL11A2 - - GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh37
693 703

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 07, 2018)
criteria provided, single submitter
Method: research
Deafness, autosomal recessive 53
Allele origin: germline
Laboratory of Prof. Karen Avraham,Tel Aviv University
Accession: SCV001164279.1
Submitted: (Nov 24, 2019)
Evidence details
Comment:
Recessive, compound heterozygous with NM_080680.2:[c.967insC]; congenital, moderate-severe high tone NSHL

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs550153707...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021