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NM_001099274.3(TINF2):c.1081A>G (p.Met361Val) AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 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:
RCV002252307.2

Allele description [Variation Report for NM_001099274.3(TINF2):c.1081A>G (p.Met361Val)]

NM_001099274.3(TINF2):c.1081A>G (p.Met361Val)

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.1081A>G (p.Met361Val)
HGVS:
  • NC_000014.9:g.24240311T>C
  • NG_016650.1:g.7364A>G
  • NG_054634.1:g.12895T>C
  • NM_001099274.3:c.1081A>GMANE SELECT
  • NM_001363668.2:c.976A>G
  • NM_012461.3:c.*104A>G
  • NP_001092744.1:p.Met361Val
  • NP_001350597.1:p.Met326Val
  • LRG_342t1:c.1081A>G
  • LRG_342t2:c.*104A>G
  • LRG_342:g.7364A>G
  • LRG_342p1:p.Met361Val
  • NC_000014.8:g.24709517T>C
  • NM_001099274.1:c.1081A>G
Protein change:
M326V
Links:
dbSNP: rs201787600
NCBI 1000 Genomes Browser:
rs201787600
Molecular consequence:
  • NM_012461.3:c.*104A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001099274.3:c.1081A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363668.2:c.976A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002523199Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 4, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002523199.1

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

Description

ACMG classification criteria: PM2, BP4

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

Last Updated: Sep 29, 2024