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NM_014176.4(UBE2T):c.368dup (p.Leu124fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 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:
RCV001389953.4

Allele description [Variation Report for NM_014176.4(UBE2T):c.368dup (p.Leu124fs)]

NM_014176.4(UBE2T):c.368dup (p.Leu124fs)

Gene:
UBE2T:ubiquitin conjugating enzyme E2 T [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_014176.4(UBE2T):c.368dup (p.Leu124fs)
HGVS:
  • NC_000001.11:g.202333255dup
  • NG_042230.1:g.13714dup
  • NM_001310326.2:c.278dup
  • NM_014176.4:c.368dupMANE SELECT
  • NP_001297255.1:p.Leu94fs
  • NP_054895.1:p.Leu124fs
  • LRG_1169t1:c.368dup
  • LRG_1169:g.13714dup
  • LRG_1169p1:p.Leu124fs
  • NC_000001.10:g.202302380_202302381insG
  • NC_000001.10:g.202302383dup
Protein change:
L124fs
Links:
dbSNP: rs769303670
NCBI 1000 Genomes Browser:
rs769303670
Molecular consequence:
  • NM_001310326.2:c.278dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014176.4:c.368dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001591513Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 1, 2018) 		germlineclinical testing

PubMed (3)
[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 the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.

Hira A, Yoshida K, Sato K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Shimamoto A, Tahara H, Ito E, Kojima S, Kurumizaka H, Ogawa S, Takata M, Yabe H, Yabe M.

Am J Hum Genet. 2015 Jun 4;96(6):1001-7. doi: 10.1016/j.ajhg.2015.04.022.

PubMed [citation]
PMID:
26046368
PMCID:
PMC4457949

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.

Rickman KA, Lach FP, Abhyankar A, Donovan FX, Sanborn EM, Kennedy JA, Sougnez C, Gabriel SB, Elemento O, Chandrasekharappa SC, Schindler D, Auerbach AD, Smogorzewska A.

Cell Rep. 2015 Jul 7;12(1):35-41. doi: 10.1016/j.celrep.2015.06.014. Epub 2015 Jun 25.

PubMed [citation]
PMID:
26119737
PMCID:
PMC4497947
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001591513.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Leu124Alafs*4) in the UBE2T gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs769303670, ExAC 0.02%). This variant has not been reported in the literature in individuals with UBE2T-related disease. Loss-of-function variants in UBE2T are known to be pathogenic (PMID: 26046368, 26119737). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024