chr7:117610521:G>C Detail (hg38) (CFTR, LOC111674472)

Information

Genome

Assembly Position
hg19 chr7:117,250,575-117,250,575 View the variant detail on this assembly version.
hg38 chr7:117,610,521-117,610,521

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.2991G>C NP_000483.3:p.Leu997Phe
Ensemble ENST00000003084.11:c.2991G>C ENST00000003084.11:p.Leu997Phe
ENST00000648260.1:c.1773G>C ENST00000648260.1:p.Leu591Phe
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
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 tgv351815206 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2001-01-01 no assertion criteria provided Pancreatitis, idiopathic, susceptibility to germline Detail
risk factor 2001-01-01 no assertion criteria provided Hypertrypsinemia, neonatal, susceptibility to germline Detail
Conflicting interpretations of pathogenicity 2024-02-01 criteria provided, conflicting interpretations cystic fibrosis biparental germline unknown Detail
Conflicting interpretations of pathogenicity 2024-04-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Benign 2020-11-12 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance 2015-09-15 no assertion criteria provided pancreatitis germline Detail
Conflicting interpretations of pathogenicity 2022-10-27 criteria provided, conflicting interpretations CFTR-related disorder germline Detail
Uncertain significance no assertion criteria provided Infertility disorder germline Detail
Pathogenic 2022-03-16 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.800 cystic fibrosis NA CLINVAR Detail
0.121 Hereditary pancreatitis NA CLINVAR Detail
0.003 pancreatitis idiopathic Remarkably, in all three affected individuals, the SPINK1 deletion was found to ... BeFree 17681820 Detail
0.005 pancreatitis idiopathic Remarkably, in all three affected individuals, the SPINK1 deletion was found to ... BeFree 17681820 Detail
0.173 Pancreatitis, Chronic Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missens... BeFree 17681820 Detail
0.010 cystic fibrosis Remarkably, in all three affected individuals, the SPINK1 deletion was found to ... BeFree 17681820 Detail
0.220 Pancreatitis, Chronic Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missens... BeFree 17681820 Detail
0.800 cystic fibrosis To evaluate the role of complex alleles, with two or more mutations in cis posit... BeFree 20706124 Detail
0.800 cystic fibrosis Remarkably, in all three affected individuals, the SPINK1 deletion was found to ... BeFree 17681820 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND Pancreatitis, idiopathic, susceptibility to ClinVar Detail
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND Hypertrypsinemia, neonatal, susceptibility to ClinVar Detail
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND not provided ClinVar Detail
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND not specified ClinVar Detail
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND Pancreatitis ClinVar Detail
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND CFTR-related disorder ClinVar Detail
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND Infertility disorder ClinVar Detail
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND Obstructive azoospermia ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Remarkably, in all three affected individuals, the SPINK1 deletion was found to be co-inherited with... DisGeNET Detail
Remarkably, in all three affected individuals, the SPINK1 deletion was found to be co-inherited with... DisGeNET Detail
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) i... DisGeNET Detail
Remarkably, in all three affected individuals, the SPINK1 deletion was found to be co-inherited with... DisGeNET Detail
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) i... DisGeNET Detail
To evaluate the role of complex alleles, with two or more mutations in cis position, of the cystic f... DisGeNET Detail
Remarkably, in all three affected individuals, the SPINK1 deletion was found to be co-inherited with... 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
rs1800111 dbSNP
Genome
hg38
Position
chr7:117,610,521-117,610,521
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8626
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)
120696
Allele Counts in All Race (ExAC)
254
Heterozygous Counts in All Race (ExAC)
254
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0021044607940611123
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