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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001787236	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jul 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001787236

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jul 1, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001787236.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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