NM_147686.4(TRAF3IP2):c.1681C>T (p.Gln561Ter) AND Candidiasis, familial, 8

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 20, 2018
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:: RCV000706524.1

Allele description [Variation Report for NM_147686.4(TRAF3IP2):c.1681C>T (p.Gln561Ter)]

NM_147686.4(TRAF3IP2):c.1681C>T (p.Gln561Ter)

Genes:

TRAF3IP2:TRAF3 interacting protein 2 [Gene - OMIM - HGNC]
TRAF3IP2-AS1:TRAF3IP2 antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q21

Genomic location:

Preferred name:

NM_147686.4(TRAF3IP2):c.1681C>T (p.Gln561Ter)

HGVS:

NC_000006.12:g.111559422G>A
NG_032030.2:g.51457C>T
NM_001164281.3:c.1678C>T
NM_001164283.3:c.313C>T
NM_147200.3:c.1708C>T
NM_147686.4:c.1681C>TMANE SELECT
NP_001157753.1:p.Gln560Ter
NP_001157755.1:p.Gln105Ter
NP_671733.2:p.Gln570Ter
NP_679211.2:p.Gln561Ter
LRG_1337t1:c.1681C>T
LRG_1337:g.51457C>T
LRG_1337p1:p.Gln561Ter
NC_000006.11:g.111880625G>A
NM_147686.3:c.1681C>T

Protein change:

Q105*

Links:

dbSNP: rs1562415669

NCBI 1000 Genomes Browser:

rs1562415669

Molecular consequence:

NM_001164281.3:c.1678C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001164283.3:c.313C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_147200.3:c.1708C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_147686.4:c.1681C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Candidiasis, familial, 8 (CANDF8)
Identifiers:: MONDO: MONDO:0014230; MedGen: C3714992; Orphanet: 1334; OMIM: 615527

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000835580	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 20, 2018)	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

SCV000835580

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 20, 2018)

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 Invitae, SCV000835580.1

#	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 results in a premature translational stop signal in the TRAF3IP2 gene (p.Gln561*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 5 amino acids of the TRAF3IP2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TRAF3IP2-related 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: Apr 23, 2022

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