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NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) AND CFTR-related disorder

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Aug 13, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001831534.10

Allele description [Variation Report for NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)]

NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)

Gene:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)
HGVS:
  • NC_000007.14:g.117509123G>A
  • NG_016465.4:g.48340G>A
  • NG_062452.1:g.761G>A
  • NM_000492.4:c.254G>AMANE SELECT
  • NP_000483.3:p.Gly85Glu
  • NP_000483.3:p.Gly85Glu
  • LRG_663t1:c.254G>A
  • LRG_663:g.48340G>A
  • LRG_663p1:p.Gly85Glu
  • NC_000007.13:g.117149177G>A
  • NM_000492.3:c.254G>A
  • P13569:p.Gly85Glu
Protein change:
G85E; GLY85GLU
Links:
Genetic Testing Registry (GTR): GTR000074114; Genetic Testing Registry (GTR): GTR000257096; Genetic Testing Registry (GTR): GTR000500233; UniProtKB: P13569#VAR_000112; OMIM: 602421.0038; dbSNP: rs75961395
NCBI 1000 Genomes Browser:
rs75961395
Molecular consequence:
  • NM_000492.4:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CFTR-related disorder (CFTR-RD)
Synonyms:
CFTR-related disorders; CFTR-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002080095Natera, Inc.
no assertion criteria provided
Pathogenic
(Mar 17, 2017) 		germlineclinical testing

SCV005361801PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Aug 13, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002080095.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From PreventionGenetics, part of Exact Sciences, SCV005361801.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CFTR c.254G>A variant is predicted to result in the amino acid substitution p.Gly85Glu. This variant has been reported in unrelated patients with cystic fibrosis, pancreatic insufficiency, and congenital bilateral absence of vas deferens (Chalkley et al. 1991. PubMed ID: 1757965; Gallati et al. 2009. PubMed ID: 20021716; Ooi and Durie. 2012. PubMed ID: 22658665; Masson et al. 2013. PubMed ID: 23951356; Sosnay et al. 2013. PubMed ID: 23974870; cftr2.org). Functional studies showed that the p.Gly85Glu substitution leads to defects in CFTR protein processing resulting from the aberrant integration into the endoplasmic reticulum membrane and failure in trafficking to the cell surface (Patrick et al. 2011. PubMed ID: 21998193; Van Goor et al. 2014. PubMed ID: 23891399). This variant is reported in 0.0078% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024