NM_000492.4(CFTR):c.1210-12_1210-11insGTG AND CFTR-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 9, 2022
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:: RCV004545209.2

Allele description [Variation Report for NM_000492.4(CFTR):c.1210-12_1210-11insGTG]

NM_000492.4(CFTR):c.1210-12_1210-11insGTG

Genes:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
CFTR-AS1:CFTR antisense RNA 1 [Gene - HGNC]

Variant type:

Insertion

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.1210-12_1210-11insGTG

HGVS:

NC_000007.14:g.117548629_117548630insGTG
NG_016465.4:g.87846_87847insGTG
NM_000492.3:c.1210-12_1210-11insGTG
NM_000492.4:c.1210-12_1210-11insGTGMANE SELECT
LRG_663t1:c.1210-12_1210-11insGTG
LRG_663:g.87846_87847insGTG
NC_000007.13:g.117188683_117188684insGTG

Links:

dbSNP: rs4148705

NCBI 1000 Genomes Browser:

rs4148705

Molecular consequence:

NM_000492.4:c.1210-12_1210-11insGTG - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Sulawesidrobia 16S ribosomal RNA gene, partial sequence; mitochondrial.
Sulawesidrobia 16S ribosomal RNA gene, partial sequence; mitochondrial.
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004763783	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Mar 9, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004763783

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Mar 9, 2022)

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004763783.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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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