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NM_001099274.3(TINF2):c.1208del (p.Gln403fs) AND TINF2-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 4, 2023
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:
RCV003946886.1

Allele description

NM_001099274.3(TINF2):c.1208del (p.Gln403fs)

Gene:
TINF2:TERF1 interacting nuclear factor 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q12
Genomic location:
Preferred name:
NM_001099274.3(TINF2):c.1208del (p.Gln403fs)
HGVS:
  • NC_000014.9:g.24240077del
  • NG_016650.1:g.7598del
  • NG_054634.1:g.12661del
  • NM_001099274.3:c.1208delMANE SELECT
  • NM_001363668.2:c.1103del
  • NM_012461.3:c.*338del
  • NP_001092744.1:p.Gln403fs
  • NP_001350597.1:p.Gln368fs
  • LRG_342t1:c.1208del
  • LRG_342t2:c.*338del
  • LRG_342:g.7598del
  • LRG_342p1:p.Gln403fs
  • NC_000014.8:g.24709283del
  • NM_001099274.1:c.1208delA
Protein change:
Q368fs
Molecular consequence:
  • NM_012461.3:c.*338del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001099274.3:c.1208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363668.2:c.1103del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
TINF2-related disorder
Synonyms:
TINF2-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004760070PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 4, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004760070.1

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

Description

The TINF2 c.1208delA variant is predicted to result in a frameshift and premature protein termination (p.Gln403Argfs*19). This variant is located in the penultimate exon and is not predicted to result in nonsense mediated decay. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Although frameshift variants are expected to be pathogenic, nearly all have been reported upstream of this variant (Human Gene Mutation Database). 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: May 19, 2024