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NM_000492.4(CFTR):c.164+12T>C AND CFTR-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 22, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004537223.2

Allele description [Variation Report for NM_000492.4(CFTR):c.164+12T>C]

NM_000492.4(CFTR):c.164+12T>C

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.164+12T>C
Other names:
296+ 12T- >C
HGVS:
  • NC_000007.14:g.117504375T>C
  • NG_016465.4:g.43592T>C
  • NM_000492.4:c.164+12T>CMANE SELECT
  • LRG_663t1:c.164+12T>C
  • LRG_663:g.43592T>C
  • NC_000007.13:g.117144429T>C
  • NM_000492.3:c.164+12T>C
Links:
dbSNP: rs121908790
NCBI 1000 Genomes Browser:
rs121908790
Molecular consequence:
  • NM_000492.4:c.164+12T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
CFTR-related disorder (CFTR-RD)
Synonyms:
CFTR-related disorders; CFTR-related condition
Identifiers:
MedGen: C5924204

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004719372PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Feb 22, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004719372.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CFTR c.164+12T>C variant is predicted to interfere with splicing. This variant has been previously reported in homozygous state in individuals with cystic fibrosis (see for example: Trujillano et al. 2015. PubMed ID: 26436105 and Banjar et al. 2017. PubMed ID: 30805499). In one individual this variant was described as double homozygous, along with a second homozygous CFTR pathogenic variant (Banjar et al. 2017. PubMed ID: 30805499; ClinVarID:53841). This variant is reported in 0.26% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Jan 19, 2025