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NM_000492.3(CFTR):c.2T>C (p.Met1Thr)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 11, 2015)
Last evaluated:
Jul 23, 2014
Accession:
VCV000053622.1
Variation ID:
53622
Description:
single nucleotide variant
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NM_000492.3(CFTR):c.2T>C (p.Met1Thr)

Allele ID
68290
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117480096 (GRCh38) GRCh38 UCSC
7: 117120150 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.117120150T>C
NC_000007.14:g.117480096T>C
NM_000492.3:c.2T>C NP_000483.3:p.Met1Thr missense
... more HGVS
Protein change
M1T
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA327005
dbSNP: rs397508476
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jul 23, 2014 RCV000046751.4
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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
Likely pathogenic
(Jul 23, 2014)
criteria provided, single submitter
Method: literature only
Cystic fibrosis
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220549.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (3)

Citations for this variant

Title Author Journal Year Link
Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations. Sachdeva K Genetic testing and molecular biomarkers 2012 PMID: 22299590
A haplotype framework for cystic fibrosis mutations in Iran. Elahi E The Journal of molecular diagnostics : JMD 2006 PMID: 16436643
Spectrum of CFTR mutations on RĂ©union Island: impact on neonatal screening. Bienvenu T Human biology 2005 PMID: 16596947

Record last updated Jan 18, 2020