NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter) AND not provided

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Aug 15, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001780129.7

Allele description [Variation Report for NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter)]

NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter)

Gene:

TINF2:TERF1 interacting nuclear factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q12

Genomic location:

Preferred name:

NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter)

HGVS:

NC_000014.9:g.24240687G>A
NG_016650.1:g.6988C>T
NG_054634.1:g.13271G>A
NM_001099274.3:c.793C>TMANE SELECT
NM_001363668.2:c.688C>T
NM_012461.3:c.793C>T
NP_001092744.1:p.Arg265Ter
NP_001350597.1:p.Arg230Ter
NP_036593.2:p.Arg265Ter
LRG_342t1:c.793C>T
LRG_342t2:c.793C>T
LRG_342:g.6988C>T
LRG_342p1:p.Arg265Ter
LRG_342p2:p.Arg265Ter
NC_000014.8:g.24709893G>A
NM_001099274.1:c.793C>T

Protein change:

R230*

Links:

dbSNP: rs200320654

NCBI 1000 Genomes Browser:

rs200320654

Molecular consequence:

NM_001099274.3:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001363668.2:c.688C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_012461.3:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002018971	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 1, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002760743	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 15, 2023)	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

SCV002018971

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 1, 2022)

germline

clinical testing

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

SCV002760743

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 15, 2023)

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

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 Revvity Omics, Revvity, SCV002018971.3

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

#	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

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002760743.3

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

#	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: May 19, 2024

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