NM_000492.4(CFTR):c.290T>C (p.Val97Ala) AND Cystic fibrosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 2, 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:: RCV000670404.1

Allele description [Variation Report for NM_000492.4(CFTR):c.290T>C (p.Val97Ala)]

NM_000492.4(CFTR):c.290T>C (p.Val97Ala)

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.290T>C (p.Val97Ala)

HGVS:

NC_000007.14:g.117530915T>C
NG_016465.4:g.70132T>C
NM_000492.4:c.290T>CMANE SELECT
NP_000483.3:p.Val97Ala
NP_000483.3:p.Val97Ala
LRG_663t1:c.290T>C
LRG_663:g.70132T>C
LRG_663p1:p.Val97Ala
NC_000007.13:g.117170969T>C
NM_000492.3:c.290T>C

Protein change:

V97A

Links:

dbSNP: rs1235363099

NCBI 1000 Genomes Browser:

rs1235363099

Molecular consequence:

NM_000492.4:c.290T>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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000795252	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Nov 2, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 15504721, 26574590 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000795252

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Nov 2, 2017)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Direct comparison of the functional roles played by different transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore.

Ge N, Muise CN, Gong X, Linsdell P.

J Biol Chem. 2004 Dec 31;279(53):55283-9. Epub 2004 Oct 25.

PubMed [citation]

PMID:: 15504721

Newborn Screening for Cystic Fibrosis in California.

Kharrazi M, Yang J, Bishop T, Lessing S, Young S, Graham S, Pearl M, Chow H, Ho T, Currier R, Gaffney L, Feuchtbaum L; California Cystic Fibrosis Newborn Screening Consortium..

Pediatrics. 2015 Dec;136(6):1062-72. doi: 10.1542/peds.2015-0811. Epub 2015 Nov 16.

PubMed [citation]

PMID:: 26574590

Details of each submission

From Counsyl, SCV000795252.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Feb 28, 2024

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