chr6:33171698:T>G Detail (hg38) (COL11A2)

Information

Genome

Assembly Position
hg19 chr6:33,139,475-33,139,475 View the variant detail on this assembly version.
hg38 chr6:33,171,698-33,171,698

HGVS

Type Transcript Protein
RefSeq NM_080680.2:c.3150+15A>C
NM_080681.2:c.2892+15A>C
Ensemble ENST00000341947.7:c.3150+15A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.986
ToMMo:0.989
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.975

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 120290 OMIM
HGNC 2187 HGNC
Ensembl ENSG00000204248 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24874942 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2016-09-29 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2021-07-22 criteria provided, multiple submitters, no conflicts otospondylomegaepiphyseal dysplasia, autosomal recessive germline Detail
Benign 2021-07-22 criteria provided, multiple submitters, no conflicts otospondylomegaepiphyseal dysplasia, autosomal dominant germline Detail
Benign 2021-07-22 criteria provided, multiple submitters, no conflicts fibrochondrogenesis 2 germline Detail
Benign 2016-06-14 criteria provided, single submitter Stickler Syndrome, Dominant germline Detail
Benign 2024-02-01 criteria provided, single submitter not provided germline Detail
Benign 2021-07-22 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 13 germline Detail
Benign 2021-07-22 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 53 germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_080680.3(COL11A2):c.3150+15A>C AND not specified ClinVar Detail
NM_080680.3(COL11A2):c.3150+15A>C AND Otospondylomegaepiphyseal dysplasia, autosomal recessive ClinVar Detail
NM_080680.3(COL11A2):c.3150+15A>C AND Otospondylomegaepiphyseal dysplasia, autosomal dominant ClinVar Detail
NM_080680.3(COL11A2):c.3150+15A>C AND Fibrochondrogenesis 2 ClinVar Detail
NM_080680.3(COL11A2):c.3150+15A>C AND Stickler Syndrome, Dominant ClinVar Detail
NM_080680.3(COL11A2):c.3150+15A>C AND not provided ClinVar Detail
NM_080680.3(COL11A2):c.3150+15A>C AND Autosomal dominant nonsyndromic hearing loss 13 ClinVar Detail
NM_080680.3(COL11A2):c.3150+15A>C AND Autosomal recessive nonsyndromic hearing loss 53 ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2855436 dbSNP
Genome
hg38
Position
chr6:33,171,698-33,171,698
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
799
Mean of sample read depth (HGVD)
287.89
Standard deviation of sample read depth (HGVD)
173.17
Number of reference allele (HGVD)
22
Number of alternative allele (HGVD)
1576
Allele Frequency (HGVD)
0.986232790988736
Gene Symbol (HGVD)
COL11A2
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs2855436
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9887
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16569
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
Homozygous Counts in All Race (ExAC)
34677
East Asian Chromosome Counts (ExAC)
8426
East Asian Allele Counts (ExAC)
8212
East Asian Heterozygous Counts (ExAC)
206
East Asian Homozygous Counts (ExAC)
4003
East Asian Allele Frequency (ExAC)
0.9746024210776169
Chromosome Counts in All Race (ExAC)
111198
Allele Counts in All Race (ExAC)
87485
Heterozygous Counts in All Race (ExAC)
18131
Allele Frequency in All Race (ExAC)
0.7867497616863612
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