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NM_000492.4(CFTR):c.1384G>T (p.Ala462Ser) AND CFTR-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV001161867.5

Allele description [Variation Report for NM_000492.4(CFTR):c.1384G>T (p.Ala462Ser)]

NM_000492.4(CFTR):c.1384G>T (p.Ala462Ser)

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.1384G>T (p.Ala462Ser)
HGVS:
  • NC_000007.14:g.117548815G>T
  • NG_016465.4:g.88032G>T
  • NM_000492.4:c.1384G>TMANE SELECT
  • NP_000483.3:p.Ala462Ser
  • LRG_663t1:c.1384G>T
  • LRG_663:g.88032G>T
  • NC_000007.13:g.117188869G>T
  • NM_000492.3:c.1384G>T
Protein change:
A462S
Links:
dbSNP: rs1799216405
NCBI 1000 Genomes Browser:
rs1799216405
Molecular consequence:
  • NM_000492.4:c.1384G>T - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001323778Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 27, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

The c.1364C>A (p.A455E) Mutation in the CFTR Pseudogene Results in an Incorrectly Assigned Carrier Status by a Commonly Used Screening Platform.

Deeb KK, Metcalf JD, Sesock KM, Shen J, Wensel CA, Rippel LI, Smith M, Chapman MS, Zhang S.

J Mol Diagn. 2015 Jul;17(4):360-5. doi: 10.1016/j.jmoldx.2015.02.005. Epub 2015 May 5.

PubMed [citation]
PMID:
25956447

Normal gating of CFTR requires ATP binding to both nucleotide-binding domains and hydrolysis at the second nucleotide-binding domain.

Berger AL, Ikuma M, Welsh MJ.

Proc Natl Acad Sci U S A. 2005 Jan 11;102(2):455-60. Epub 2004 Dec 27.

PubMed [citation]
PMID:
15623556
PMCID:
PMC544308

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001323778.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Sep 29, 2024