NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) AND CFTR-related disorders

Clinical significance:Benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001158654.1

Allele description [Variation Report for NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)]

NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)

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.1052C>G (p.Thr351Ser)
HGVS:
  • NC_000007.14:g.117540282C>G
  • NG_016465.4:g.79499C>G
  • NM_000492.3:c.1052C>G
  • NM_000492.4:c.1052C>GMANE SELECT
  • NP_000483.3:p.Thr351Ser
  • NP_000483.3:p.Thr351Ser
  • LRG_663t1:c.1052C>G
  • LRG_663:g.79499C>G
  • LRG_663p1:p.Thr351Ser
  • NC_000007.13:g.117180336C>G
  • NM_000492.4:c.1052C>G
  • P13569:p.Thr351Ser
Protein change:
T351S
Links:
UniProtKB: P13569#VAR_009899; dbSNP: rs1800086
NCBI 1000 Genomes Browser:
rs1800086
Molecular consequence:
  • NM_000492.3:c.1052C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000492.4:c.1052C>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Normal function

Condition(s)

Name:
CFTR-related disorders (CFTR-RD)
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001320306Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

Masson E, Chen JM, Audrézet MP, Cooper DN, Férec C.

PLoS One. 2013;8(8):e73522. doi: 10.1371/journal.pone.0073522.

PubMed [citation]
PMID:
23951356
PMCID:
PMC3738529

Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis.

Dal'Maso VB, Mallmann L, Siebert M, Simon L, Saraiva-Pereira ML, Dalcin Pde T.

J Bras Pneumol. 2013 Mar-Apr;39(2):181-9. English, Portuguese.

PubMed [citation]
PMID:
23670503
PMCID:
PMC4075816

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001320306.1

#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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Nov 27, 2021

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