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NM_000492.4(CFTR):c.273G>C (p.Gly91=)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
May 17, 2019
Accession:
VCV000495909.3
Variation ID:
495909
Description:
single nucleotide variant
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NM_000492.4(CFTR):c.273G>C (p.Gly91=)

Allele ID
487236
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117509142 (GRCh38) GRCh38 UCSC
7: 117149196 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_663:g.48359G>C
NC_000007.13:g.117149196G>C
NM_000492.3:c.273G>C NP_000483.3:p.Gly91= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:117509141:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA457225729
dbSNP: rs773739166
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts May 17, 2019 RCV000587955.3
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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
1974 2730

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 01, 2016)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696895.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: The CFTR c.273G>C (p.Gly91Gly) variant involves the alteration of the last nucleotide of exon 3, resulting in a synonymous change. One in silico … (more)
Likely pathogenic
(May 17, 2019)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Invitae
Accession: SCV001385257.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change affects codon 91 of the CFTR mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis. Sofia VM Molecular medicine (Cambridge, Mass.) 2016 PMID: 27264265
Relationship between CFTR and CTRC variants and the clinical phenotype in late-onset cystic fibrosis disease with chronic pancreatitis. Tomaiuolo AC The Journal of molecular diagnostics : JMD 2015 PMID: 25636364
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Text-mined citations for rs773739166...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 30, 2021