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NM_000492.3(CFTR):c.2754T>G (p.Ile918Met)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Mar 30, 2013)
Accession:
VCV000053559.1
Variation ID:
53559
Description:
single nucleotide variant
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NM_000492.3(CFTR):c.2754T>G (p.Ile918Met)

Allele ID
68227
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117603628 (GRCh38) GRCh38 UCSC
7: 117243682 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.14:g.117603628T>G
NC_000007.13:g.117243682T>G
NM_000492.3:c.2754T>G NP_000483.3:p.Ile918Met missense
... more HGVS
Protein change
I918M
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA326912
dbSNP: rs397508429
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
not provided 1 no assertion provided - RCV000577571.1
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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
not provided
(-)
no assertion provided
Method: literature only
CFTR-related disorders
Allele origin: germline
ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000679413.1
Submitted: (Mar 30, 2013)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene? Dorfman R Clinical genetics 2010 PMID: 20059485

Record last updated Dec 27, 2019