U.S. flag

An official website of the United States government

NM_000492.4(CFTR):c.1175T>C (p.Val392Ala) AND CFTR-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 18, 2019
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:
RCV001249737.4

Allele description [Variation Report for NM_000492.4(CFTR):c.1175T>C (p.Val392Ala)]

NM_000492.4(CFTR):c.1175T>C (p.Val392Ala)

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.1175T>C (p.Val392Ala)
HGVS:
  • NC_000007.14:g.117542074T>C
  • NG_016465.4:g.81291T>C
  • NM_000492.4:c.1175T>CMANE SELECT
  • NP_000483.3:p.Val392Ala
  • NP_000483.3:p.Val392Ala
  • LRG_663t1:c.1175T>C
  • LRG_663:g.81291T>C
  • LRG_663p1:p.Val392Ala
  • NC_000007.13:g.117182128T>C
  • NM_000492.3:c.1175T>C
Protein change:
V392A
Links:
dbSNP: rs397508170
NCBI 1000 Genomes Browser:
rs397508170
Molecular consequence:
  • NM_000492.4:c.1175T>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
SCV001423769Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Uncertain significance
(Oct 18, 2019) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

Dorfman R, Nalpathamkalam T, Taylor C, Gonska T, Keenan K, Yuan XW, Corey M, Tsui LC, Zielenski J, Durie P.

Clin Genet. 2010 May;77(5):464-73. doi: 10.1111/j.1399-0004.2009.01351.x. Epub 2009 Jan 6.

PubMed [citation]
PMID:
20059485

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001423769.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The CFTR c.1175T>C (p.Val392Ala) variant is a missense variant. The p.Val392Ala variant is described in one study on the use of in silico tools to predict clinical consequences of variants in the CFTR gene as being associated with CFTR-related disorders (Dorfman et al. 2017). Control data are unavailable for this variant which is not found in the Genome Aggregation Database despite good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Val293Ala variant is classified as a variant of unknown significance for CFTR-related disorders.

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

Last Updated: May 19, 2024