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NM_177972.3(TUB):c.379AAG[1] (p.Lys128del) AND TUB-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 28, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004743418.1

Allele description [Variation Report for NM_177972.3(TUB):c.379AAG[1] (p.Lys128del)]

NM_177972.3(TUB):c.379AAG[1] (p.Lys128del)

Genes:
RIC3:RIC3 acetylcholine receptor chaperone [Gene - OMIM - HGNC]
TUB:TUB bipartite transcription factor [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_177972.3(TUB):c.379AAG[1] (p.Lys128del)
HGVS:
  • NC_000011.10:g.8094171AAG[1]
  • NG_029912.1:g.60539AAG[1]
  • NG_030416.2:g.79870TCT[1]
  • NM_003320.4:c.547_549delAAG
  • NM_003320.5:c.544AAG[1]
  • NM_177972.3:c.379AAG[1]MANE SELECT
  • NP_003311.2:p.Lys183del
  • NP_813977.1:p.Lys128del
  • NC_000011.9:g.8115716_8115718del
  • NC_000011.9:g.8115718AAG[1]
Protein change:
K128del
Links:
dbSNP: rs776764692
NCBI 1000 Genomes Browser:
rs776764692
Molecular consequence:
  • NM_003320.5:c.544AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_177972.3:c.379AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
TUB-related disorder
Synonyms:
TUB-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005367238PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Aug 28, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005367238.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The TUB c.547_549delAAG variant is predicted to result in an in-frame deletion (p.Lys183del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.015% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 8, 2024