chr7:117530975:G>T Detail (hg38) (CFTR)

Information

Genome

Assembly Position
hg19 chr7:117,171,029-117,171,029 View the variant detail on this assembly version.
hg38 chr7:117,530,975-117,530,975

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.350G>T NP_000483.3:p.Arg117Leu
Ensemble ENST00000003084.11:c.350G>T ENST00000003084.11:p.Arg117Leu
ENST00000648260.1:c.350G>T ENST00000648260.1:p.Arg117Leu
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 2023-11-05 criteria provided, conflicting interpretations cystic fibrosis germline unknown Detail
Uncertain significance 2019-06-05 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-09-30 criteria provided, single submitter Bronchiectasis with or without elevated sweat chloride 1 unknown Detail
not provided no assertion provided Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis,cystic fibrosis unknown Detail
not provided no assertion provided Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis,cystic fibrosis unknown Detail
not provided no assertion provided Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis,cystic fibrosis 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
0.800 cystic fibrosis Because PPi stimulated wild-type channels, we tested its effect on CFTR containi... BeFree 7544788 Detail
0.268 Hereditary pancreatitis However, neither the R117H nor the N21L mutation in the cationic trypsinogen wer... BeFree 10653140 Detail
<0.001 Diaphoresis Adverse Event To determine if oral dosing with the CFTR-potentiator ivacaftor (VX-770, Kalydec... BeFree 24520399 Detail
0.003 Bronchial Hyperreactivity Possible associations between asthma, reduced lung function, bronchial hyperresp... BeFree 16678395 Detail
0.173 Pancreatitis, Chronic [We wanted to describe etiologies of today and identify patients with genetic di... GAD 20108119 Detail
0.509 Congenital bilateral aplasia of vas deferens The high frequency of the cystic fibrosis (CF) transmembrane conductance regulat... BeFree 23378603 Detail
0.800 cystic fibrosis However knowledge about the residual function of R117H-CFTR channels in cystic f... BeFree 21507732 Detail
0.026 exocrine pancreatic insufficiency [The prevalence of CP, especially in women, increased over time. Genetic causes ... GAD 20108119 Detail
0.800 cystic fibrosis Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R11... BeFree 17015492 Detail
0.032 Lung diseases Patients with two identified CFTR mutations which include the R117H/7T anomaly s... BeFree 16266832 Detail
0.018 Pancreatitis, Alcoholic [The prevalence of CP, especially in women, increased over time. Genetic causes ... GAD 20108119 Detail
0.800 cystic fibrosis Debate continues regarding the clinical implications for compound heterozygotes ... BeFree 18394117 Detail
0.800 cystic fibrosis The high frequency of the cystic fibrosis (CF) transmembrane conductance regulat... BeFree 23378603 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) AND not provided ClinVar Detail
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) AND Bronchiectasis with or without elevated sweat chloride ... ClinVar Detail
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Because PPi stimulated wild-type channels, we tested its effect on CFTR containing the cystic fibros... DisGeNET Detail
However, neither the R117H nor the N21L mutation in the cationic trypsinogen were found in the HP fa... DisGeNET Detail
To determine if oral dosing with the CFTR-potentiator ivacaftor (VX-770, Kalydeco) improves CFTR-dep... DisGeNET Detail
Possible associations between asthma, reduced lung function, bronchial hyperresponsiveness (BHR), an... DisGeNET Detail
[We wanted to describe etiologies of today and identify patients with genetic disorders like heredit... DisGeNET Detail
The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutat... DisGeNET Detail
However knowledge about the residual function of R117H-CFTR channels in cystic fibrosis-affected org... DisGeNET Detail
[The prevalence of CP, especially in women, increased over time. Genetic causes that partly or total... DisGeNET Detail
Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be includ... DisGeNET Detail
Patients with two identified CFTR mutations which include the R117H/7T anomaly should be followed up... DisGeNET Detail
[The prevalence of CP, especially in women, increased over time. Genetic causes that partly or total... DisGeNET Detail
Debate continues regarding the clinical implications for compound heterozygotes identified with Phe5... DisGeNET Detail
The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutat... 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
rs78655421 dbSNP
Genome
hg38
Position
chr7:117,530,975-117,530,975
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
136.18
Standard deviation of sample read depth (HGVD)
62.64
Number of reference allele (HGVD)
2419
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1322314049586776E-4
Gene Symbol (HGVD)
CFTR
East Asian Chromosome Counts (ExAC)
8612
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120360
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.308408109006315E-6
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