NM_001099274.3(TINF2):c.1010del (p.Gly337fs) AND Dyskeratosis congenita

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 4, 2019
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:: RCV000703176.6

Allele description [Variation Report for NM_001099274.3(TINF2):c.1010del (p.Gly337fs)]

NM_001099274.3(TINF2):c.1010del (p.Gly337fs)

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.1010del (p.Gly337fs)

HGVS:

NC_000014.9:g.24240475del
NG_016650.1:g.7205del
NG_054634.1:g.13059del
NM_001099274.3:c.1010delMANE SELECT
NM_001363668.2:c.905del
NM_012461.3:c.1010del
NP_001092744.1:p.Gly337fs
NP_001350597.1:p.Gly302fs
NP_036593.2:p.Gly337fs
LRG_342t1:c.1010del
LRG_342t2:c.1010del
LRG_342:g.7205del
LRG_342p1:p.Gly337fs
LRG_342p2:p.Gly337fs
NC_000014.8:g.24709676del
NC_000014.8:g.24709681del
NM_001099274.1:c.1010delG

Protein change:

G302fs

Links:

dbSNP: rs756029660

NCBI 1000 Genomes Browser:

rs756029660

Molecular consequence:

NM_001099274.3:c.1010del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363668.2:c.905del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_012461.3:c.1010del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Dyskeratosis congenita
Identifiers:: MONDO: MONDO:0015780; MedGen: C0265965; OMIM: PS127550

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000832064	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 4, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000832064

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 4, 2019)

germline

clinical testing

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

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000832064.4

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

Description

This sequence change creates a premature translational stop signal (p.Gly337Glufs*4) in the TINF2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TINF2-related conditions. ClinVar contains an entry for this variant (Variation ID:¬†579804). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TINF2 cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Sep 29, 2024

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