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NM_000492.3(CFTR):c.416A>G (p.His139Arg)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
2 (Most recent: Mar 21, 2019)
Last evaluated:
Aug 31, 2018
Accession:
VCV000053909.2
Variation ID:
53909
Description:
single nucleotide variant
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NM_000492.3(CFTR):c.416A>G (p.His139Arg)

Allele ID
68576
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117531041 (GRCh38) GRCh38 UCSC
7: 117171095 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.117171095A>G
NC_000007.14:g.117531041A>G
NM_000492.3:c.416A>G NP_000483.3:p.His139Arg missense
... more HGVS
Protein change
H139R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA327434
UniProtKB: P13569#VAR_000126
dbSNP: rs76371115
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 reviewed by expert panel Aug 31, 2018 RCV000577519.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CFTR - - GRCh38
GRCh37
1360 1912

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 31, 2018)
reviewed by expert panel
Method: research
Cystic fibrosis
Allele origin: germline
CFTR2
Accession: SCV000924247.1
Submitted: (Mar 21, 2019)
Evidence details
Other databases
https://cftr2.org
not provided
(-)
no assertion provided
Method: literature only
CFTR-related disorders
Allele origin: germline
ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000679146.1
Submitted: (Mar 30, 2013)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients. FĂ©rec C Molecular and cellular probes 1995 PMID: 7541510
https://cftr2.org - - - -

Record last updated Jan 18, 2020