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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:

Recent activity

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  • Sulawesidrobia kerajaan isolate 192426xC 16S ribosomal RNA gene, partial sequenc...
    Sulawesidrobia kerajaan isolate 192426xC 16S ribosomal RNA gene, partial sequence; mitochondrial
    gi|313758327|gb|HM587408.1|
    Nucleotide
  • RecName: Full=Ribosome biogenesis protein NSA2 homolog; AltName: Full=Protein CD...
    RecName: Full=Ribosome biogenesis protein NSA2 homolog; AltName: Full=Protein CDK105; AltName: Full=TGF-beta-inducible nuclear protein 1
    gi|34924868|sp|Q9QYU7.2|NSA2_RAT
    Protein
  • Cod Liver Oil
    Cod Liver Oil
    Oil obtained from fresh livers of the cod family, Gadidae. It is a source of VITAMIN A and VITAMIN D.<br/>Year introduced: 1991(1975)
    MeSH
  • Institutionalization
    Institutionalization
    The caring for individuals in institutions and their adaptation to routines characteristic of the institutional environment, and/or their loss of adaptation to life outside th...<br/>Year introduced: 1979
    MeSH
  • Polyploidy
    Polyploidy
    The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc....<br/>Year introduced: 1968
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004763783PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely benign
(Mar 9, 2022) 		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, SCV004763783.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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).

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

Last Updated: Nov 3, 2024