Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000492.4(CFTR):c.592G>A (p.Ala198Thr)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 1, 2021)
Last evaluated:
Jul 22, 2021
Accession:
VCV000035887.3
Variation ID:
35887
Description:
single nucleotide variant
Help

NM_000492.4(CFTR):c.592G>A (p.Ala198Thr)

Allele ID
44551
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117535260 (GRCh38) GRCh38 UCSC
7: 117175314 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.117175314G>A
NM_000492.3:c.592G>A NP_000483.3:p.Ala198Thr missense
NC_000007.13:g.117175314G>A
... more HGVS
Protein change
A198T
Other names
-
Canonical SPDI
NC_000007.14:117535259:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA260256
dbSNP: rs193922529
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 27, 2017 RCV000593356.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Jul 22, 2021 RCV000029542.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CFTR - - GRCh38
GRCh37
1965 2714

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
Method: curation
Cystic Fibrosis
(autosomal unknown)
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000052194.1
Submitted: (Aug 18, 2011)
Evidence details
Comment:
Converted during submission to Likely pathogenic.
Uncertain significance
(Jan 27, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000705908.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Mar 23, 2020)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Invitae
Accession: SCV001483624.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces alanine with threonine at codon 198 of the CFTR protein (p.Ala198Thr). The alanine residue is moderately conserved and there is a … (more)
Uncertain significance
(Jul 22, 2021)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001822013.1
Submitted: (Sep 01, 2021)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR - - - -

Text-mined citations for rs193922529...

Help
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 24, 2021