chr7:117592588:A>G Detail (hg38) (CFTR)

Information

Genome

Assembly Position
hg19 chr7:117,232,642-117,232,642 View the variant detail on this assembly version.
hg38 chr7:117,592,588-117,592,588

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.2421A>G NP_000483.3:p.Ile807Met
Ensemble ENST00000003084.11:c.2421A>G ENST00000003084.11:p.Ile807Met
ENST00000648260.1:c.1402-10238A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-01-31 criteria provided, conflicting interpretations cystic fibrosis germline Detail
Likely benign 2023-05-05 criteria provided, single submitter not specified germline Detail
Uncertain significance 2017-05-23 criteria provided, single submitter cystic fibrosis,Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis,Bronchiectasis with or without elevated sweat chloride 1 unknown Detail
Uncertain significance 2017-05-23 criteria provided, single submitter cystic fibrosis,Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis,Bronchiectasis with or without elevated sweat chloride 1 unknown Detail
Uncertain significance 2017-05-23 criteria provided, single submitter cystic fibrosis,Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis,Bronchiectasis with or without elevated sweat chloride 1 unknown Detail
Uncertain significance 2017-05-23 criteria provided, single submitter cystic fibrosis,Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis,Bronchiectasis with or without elevated sweat chloride 1 unknown Detail
Conflicting interpretations of pathogenicity 2023-11-09 criteria provided, conflicting interpretations not provided germline unknown Detail
Conflicting interpretations of pathogenicity 2024-01-24 criteria provided, conflicting interpretations CFTR-related disorder germline Detail
Likely benign 2021-05-17 criteria provided, single submitter Hereditary pancreatitis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.509 Congenital bilateral aplasia of vas deferens NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) AND not specified ClinVar Detail
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) AND not provided ClinVar Detail
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) AND CFTR-related disorder ClinVar Detail
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) AND Hereditary pancreatitis ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1800103 dbSNP
Genome
hg38
Position
chr7:117,592,588-117,592,588
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
96.52
Standard deviation of sample read depth (HGVD)
46.54
Number of reference allele (HGVD)
2418
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
8.264462809917355E-4
Gene Symbol (HGVD)
CFTR
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8534
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
110536
Allele Counts in All Race (ExAC)
80
Heterozygous Counts in All Race (ExAC)
78
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
7.237461098646595E-4
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