NM_000492.4(CFTR):c.1196C>T (p.Ala399Val) AND CFTR-related disorder

Germline classification:: Uncertain significance (2 submissions)
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:: RCV001158656.6

Allele description [Variation Report for NM_000492.4(CFTR):c.1196C>T (p.Ala399Val)]

NM_000492.4(CFTR):c.1196C>T (p.Ala399Val)

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.1196C>T (p.Ala399Val)

HGVS:

NC_000007.14:g.117542095C>T
NG_016465.4:g.81312C>T
NM_000492.4:c.1196C>TMANE SELECT
NP_000483.3:p.Ala399Val
NP_000483.3:p.Ala399Val
LRG_663t1:c.1196C>T
LRG_663:g.81312C>T
LRG_663p1:p.Ala399Val
NC_000007.13:g.117182149C>T
NM_000492.3:c.1196C>T

Protein change:

A399V

Links:

dbSNP: rs146463120

NCBI 1000 Genomes Browser:

rs146463120

Molecular consequence:

NM_000492.4:c.1196C>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001320308	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 27, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV002080552	Natera, Inc.	no assertion criteria provided	Uncertain significance (Aug 17, 2018)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001320308

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 27, 2017)

germline

clinical testing

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

Citation Link,

SCV002080552

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Aug 17, 2018)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

CFTR gene mutation in patients with apparently idiopathic pancreatitis: lack of phenotype-genotype correlation.

Pelletier AL, Bienvenu T, Rebours V, O'Toole D, Hentic O, Maire F, Hammel P, Ruszniewski P, Lévy P.

Pancreatology. 2010;10(2-3):158-64. doi: 10.1159/000231976. Epub 2010 May 12.

PubMed [citation]

PMID:: 20460946

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001320308.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV002080552.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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