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NM_015650.4(TRAF3IP1):c.559G>T (p.Glu187Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 26, 2023
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:
RCV003718712.1

Allele description

NM_015650.4(TRAF3IP1):c.559G>T (p.Glu187Ter)

Gene:
TRAF3IP1:TRAF3 interacting protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_015650.4(TRAF3IP1):c.559G>T (p.Glu187Ter)
HGVS:
  • NC_000002.12:g.238328986G>T
  • NG_053055.1:g.13498G>T
  • NM_001139490.1:c.559G>T
  • NM_015650.4:c.559G>TMANE SELECT
  • NP_001132962.1:p.Glu187Ter
  • NP_056465.2:p.Glu187Ter
  • NC_000002.11:g.239237627G>T
Protein change:
E187*
Molecular consequence:
  • NM_001139490.1:c.559G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015650.4:c.559G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004505047Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(May 26, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation.

Berbari NF, Kin NW, Sharma N, Michaud EJ, Kesterson RA, Yoder BK.

Dev Biol. 2011 Dec 1;360(1):66-76. doi: 10.1016/j.ydbio.2011.09.001. Epub 2011 Sep 16.

PubMed [citation]
PMID:
21945076
PMCID:
PMC4059607

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

Bizet AA, Becker-Heck A, Ryan R, Weber K, Filhol E, Krug P, Halbritter J, Delous M, Lasbennes MC, Linghu B, Oakeley EJ, Zarhrate M, Nitschké P, Garfa-Traore M, Serluca F, Yang F, Bouwmeester T, Pinson L, Cassuto E, Dubot P, Elshakhs NAS, Sahel JA, et al.

Nat Commun. 2015 Oct 21;6:8666. doi: 10.1038/ncomms9666.

PubMed [citation]
PMID:
26487268
PMCID:
PMC4617596
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV004505047.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TRAF3IP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu187*) in the TRAF3IP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRAF3IP1 are known to be pathogenic (PMID: 21945076, 26487268, 29068549).

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

Last Updated: Feb 28, 2024