U.S. flag

An official website of the United States government

NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) AND CFTR-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 16, 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:
RCV004734530.1

Allele description [Variation Report for NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)]

NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)

Genes:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
CFTR-AS1:CFTR antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
HGVS:
  • NC_000007.14:g.117548798T>C
  • NG_016465.4:g.88015T>C
  • NM_000492.4:c.1367T>CMANE SELECT
  • NP_000483.3:p.Val456Ala
  • NP_000483.3:p.Val456Ala
  • LRG_663t1:c.1367T>C
  • LRG_663:g.88015T>C
  • LRG_663p1:p.Val456Ala
  • NC_000007.13:g.117188852T>C
  • NM_000492.3:c.1367T>C
Protein change:
V456A
Links:
dbSNP: rs193922500
NCBI 1000 Genomes Browser:
rs193922500
Molecular consequence:
  • NM_000492.4:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005362512PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jul 16, 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 PreventionGenetics, part of Exact Sciences, SCV005362512.1

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

Description

The CFTR c.1367T>C variant is predicted to result in the amino acid substitution p.Val456Ala. This variant has been reported in the compound heterozygous and homozygous state in several patients with cystic fibrosis (McCormick et al. 2002. PubMed ID: 12357328; Uppaluri et al. 2012. PubMed ID: 22395041; Masica et al. 2015. PubMed ID: 25489051). In vitro functional studies showed that this variant resulted in significantly decreased function of CFTR (~4.1% of control) (Raraigh et al. 2018. PubMed ID: 29805046). This variant is reported in 0.16% of alleles in individuals of South Asian 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