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NM_000492.3(CFTR):c.1365G>T (p.Ala455=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(4);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Sep 1, 2021)
Last evaluated:
Jul 22, 2021
Accession:
VCV000193593.6
Variation ID:
193593
Description:
single nucleotide variant
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NM_000492.3(CFTR):c.1365G>T (p.Ala455=)

Allele ID
190756
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117548796 (GRCh38) GRCh38 UCSC
7: 117188850 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.117188850G>T
NC_000007.14:g.117548796G>T
NG_016465.4:g.88013G>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:117548795:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (A)

Allele frequency
-
Links
ClinGen: CA239132
dbSNP: rs79074685
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Jul 22, 2021 RCV001480805.2
Likely benign 1 criteria provided, single submitter Jun 7, 2018 RCV000781283.1
CFTR-related disorders
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001161866.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Feb 11, 2018 RCV000173698.3
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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
1954 2699
CFTR-AS1 - - - GRCh38 - 283

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 12, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000224842.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jun 07, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000919196.1
Submitted: (Apr 24, 2019)
Evidence details
Comment:
Variant summary: CFTR c.1365G>T (p.Ala455Ala) alters a non-conserved nucleotide resulting in a synonymous change in exon 10 of the gene. 5/5 computational tools predict no … (more)
Likely benign
(Feb 11, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000751425.2
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
CFTR-Related Disorders
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001323777.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Feb 07, 2018)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Invitae
Accession: SCV001685128.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jul 22, 2021)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001822049.1
Submitted: (Sep 01, 2021)
Evidence details

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR - - - -

Text-mined citations for rs79074685...

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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 Sep 07, 2021