chr7:117188684:T>G Detail (hg19) (CFTR, CFTR-AS1)

Information

Genome

Assembly Position
hg19 chr7:117,188,684-117,188,684
hg38 chr7:117,548,630-117,548,630 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.1210-11T>G
Ensemble ENST00000003084.11:c.1210-11T>G
ENST00000648260.1:c.1209+6522T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.003
ToMMo:0.009
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.024

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity; other
Review star
Show details
Links
Type Database ID Link
Gene MIM 602421 OMIM
HGNC 1884 HGNC
Ensembl ENSG00000001626 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30711533 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2014-05-01 criteria provided, single submitter Congenital bilateral aplasia of vas deferens from CFTR mutation,cystic fibrosis germline Detail
Likely pathogenic 2014-05-01 criteria provided, single submitter Congenital bilateral aplasia of vas deferens from CFTR mutation,cystic fibrosis germline Detail
Conflicting interpretations of pathogenicity 2024-03-26 criteria provided, conflicting interpretations cystic fibrosis germline inherited unknown Detail
Pathogenic; other 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2019-09-02 criteria provided, multiple submitters, no conflicts Congenital bilateral aplasia of vas deferens from CFTR mutation unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.509 Congenital bilateral aplasia of vas deferens NA CLINVAR Detail
0.800 cystic fibrosis NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.1210-11T>G AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1210-11T>G AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1210-11T>G AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.1210-11T>G AND not provided ClinVar Detail
NM_000492.4(CFTR):c.1210-11T>G AND Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs73715573 dbSNP
Genome
hg19
Position
chr7:117,188,684-117,188,684
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Filtering Status (HGVD)
VQSRTrancheSNP99.00to99.90
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
357
Mean of sample read depth (HGVD)
20.59
Standard deviation of sample read depth (HGVD)
27.07
Number of reference allele (HGVD)
712
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
0.0028011204481792717
Gene Symbol (HGVD)
CFTR
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))
rs73715573
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0095
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
158
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16704
East Asian Chromosome Counts (ExAC)
7656
East Asian Allele Counts (ExAC)
184
East Asian Heterozygous Counts (ExAC)
184
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.024033437826541274
Chromosome Counts in All Race (ExAC)
104134
Allele Counts in All Race (ExAC)
1118
Heterozygous Counts in All Race (ExAC)
1118
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0107361668619279
Genome browser