U.S. flag

An official website of the United States government

NM_000492.4(CFTR):c.1210-11_1210-10insGTG AND Cystic fibrosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 11, 2022
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:
RCV002353413.2

Allele description [Variation Report for NM_000492.4(CFTR):c.1210-11_1210-10insGTG]

NM_000492.4(CFTR):c.1210-11_1210-10insGTG

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.1210-11_1210-10insGTG
HGVS:
  • NC_000007.14:g.117548630_117548631insGTG
  • NG_016465.4:g.87847_87848insGTG
  • NM_000492.4:c.1210-11_1210-10insGTGMANE SELECT
  • LRG_663t1:c.1210-11delinsTGTG
  • LRG_663:g.87847_87848insGTG
  • NC_000007.13:g.117188684_117188685insGTG
  • NM_000492.3:c.1210-11delinsTGTG
Molecular consequence:
  • NM_000492.4:c.1210-11_1210-10insGTG - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cystic fibrosis (CF)
Synonyms:
Mucoviscidosis
Identifiers:
MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002652658Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 11, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens.

Dayangaç D, Erdem H, Yilmaz E, Sahin A, Sohn C, Ozgüç M, Dörk T.

Hum Reprod. 2004 May;19(5):1094-100. Epub 2004 Apr 7.

PubMed [citation]
PMID:
15070876

Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays.

Viel M, Leroy C, Des Georges M, Claustres M, Bienvenu T.

Eur J Hum Genet. 2005 Feb;13(2):136-8. No abstract available.

PubMed [citation]
PMID:
15562283
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002652658.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The 6T variant, located in intron 9 of the CFTR gene, is an alteration within the poly-thymidine tract. Typically the poly-T tract consists of 5, 7, or 9 thymidine repeats. The efficiency of exon 10 splicing consistently decreases with shorter polythymidine tracts, resulting in a lower than normal level of fulllength CFTR protein; the effect of 5T on exon 10 splicing is also influenced by the adjacent TG tract, which usually consists of 11, 12, or 13 TG repeats (Sosnay PR et al. Pediatr. Clin. North Am., 2016 08;63:585-98). The (TG)13-6T variant has been identified in trans with a pathogenic CFTR mutation in males with congenital bilateral absence of the vas deferens (CBAVD) (Dayangaç D et al. Hum. Reprod., 2004 May;19:1094-100; Viel M et al. Eur. J. Hum. Genet., 2005 Feb;13:136-8); however, the clinical contribution of this variant to the development of CFTR-related disorders is uncertain. Based on available evidence to date, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024