U.S. flag

An official website of the United States government

NM_178012.5(TUBB2B):c.670del (p.Asp224fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 1, 2024
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:
RCV001564126.4

Allele description [Variation Report for NM_178012.5(TUBB2B):c.670del (p.Asp224fs)]

NM_178012.5(TUBB2B):c.670del (p.Asp224fs)

Gene:
TUBB2B:tubulin beta 2B class IIb [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p25.2
Genomic location:
Preferred name:
NM_178012.5(TUBB2B):c.670del (p.Asp224fs)
HGVS:
  • NC_000006.12:g.3225422del
  • NG_016715.1:g.7316del
  • NM_178012.4:c.670del
  • NM_178012.5:c.670delMANE SELECT
  • NP_821080.1:p.Asp224fs
  • NC_000006.11:g.3225656del
  • NM_178012.4:c.670delG
Protein change:
D224fs
Links:
dbSNP: rs1271392248
NCBI 1000 Genomes Browser:
rs1271392248
Molecular consequence:
  • NM_178012.5:c.670del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001787236GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Jul 1, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001787236.2

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

Description

Frameshift variant predicted to result in protein truncation as the last 222 amino acids are lost and replaced with 9 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24860126, 27010057)

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

Last Updated: Oct 8, 2024