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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 9, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001009542.1

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:
Cystic fibrosis (CF)
Synonyms:
Mucoviscidosis
Identifiers:
MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700
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
SCV001169637CFTR-France
criteria provided, single submitter

(Claustres M et al. (Hum Mutat 2017))		Pathogenic
(Mar 9, 2018) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, et al.

Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28.

PubMed [citation]
PMID:
28603918

Details of each submission

From CFTR-France, SCV001169637.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

the variant causes a phenotype but regarding our data, we can't formally attribute it to CF, CFTR-RD or both

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

Last Updated: Oct 13, 2024