NM_000492.4(CFTR):c.-16C>T AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 18, 2018
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:: RCV000755916.8

Allele description [Variation Report for NM_000492.4(CFTR):c.-16C>T]

NM_000492.4(CFTR):c.-16C>T

Genes:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
LOC111674463:CFTR promoter region [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.-16C>T

HGVS:

NC_000007.14:g.117480079C>T
NG_016465.4:g.19296C>T
NG_056120.2:g.4109C>T
NM_000492.4:c.-16C>TMANE SELECT
LRG_663t1:c.-16C>T
LRG_663:g.19296C>T
NC_000007.13:g.117120133C>T
NM_000492.3:c.-16C>T

Links:

dbSNP: rs769128872

NCBI 1000 Genomes Browser:

rs769128872

Molecular consequence:

NM_000492.4:c.-16C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000883582	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Likely benign (Jan 18, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000883582

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Likely benign
(Jan 18, 2018)

germline

clinical testing

Citation Link

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000883582.1

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

Description

The CFTR c.-16C>T variant (rs769128872) is not reported in the literature or CFTR-specific variant databases. This variant is found in the general population with an overall allele frequency of 0.0008% (2/245962 alleles) in the Genome Aggregation Database. This variant occurs in the 5' untranslated region at a nucleotide that is weakly conserved and computational algorithms (NetStart 1.0, Promoter 2.0) do not predict this variant to alter transcription or translation initiation. Based on the available information, this variant is considered likely benign.

#	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: Mar 4, 2023

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