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:: (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:: RCV003946886.2

Allele description [Variation Report for NM_001099274.3(TINF2):c.1208del (p.Gln403fs)]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004760070	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Dec 4, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004760070

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Dec 4, 2023)

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, SCV004760070.2

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

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.

#	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: Oct 13, 2024

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