NM_006009.4(TUBA1A):c.1207_1214del (p.Ala403fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 4, 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:: RCV004729557.1

Allele description [Variation Report for NM_006009.4(TUBA1A):c.1207_1214del (p.Ala403fs)]

NM_006009.4(TUBA1A):c.1207_1214del (p.Ala403fs)

Gene:

TUBA1A:tubulin alpha 1a [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q13.12

Genomic location:

Preferred name:

NM_006009.4(TUBA1A):c.1207_1214del (p.Ala403fs)

HGVS:

NC_000012.12:g.49185154_49185161del
NG_008966.1:g.8920_8927del
NG_125621.1:g.462_469del
NM_001270399.2:c.1207_1214del
NM_001270400.2:c.1102_1109del
NM_006009.4:c.1207_1214delMANE SELECT
NP_001257328.1:p.Ala403fs
NP_001257329.1:p.Ala368fs
NP_006000.2:p.Ala403fs
NC_000012.11:g.49578937_49578944del
NM_006009.2:c.1207_1214del

Protein change:

A368fs

Molecular consequence:

NM_001270399.2:c.1207_1214del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001270400.2:c.1102_1109del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006009.4:c.1207_1214del - 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
SCV005331765	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Oct 4, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005331765

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Oct 4, 2023)

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, SCV005331765.1

#	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 49 amino acids are replaced with 11 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

#	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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