NM_006322.6(TUBGCP3):c.2038A>G (p.Ile680Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 13, 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:: RCV004481671.1

Allele description [Variation Report for NM_006322.6(TUBGCP3):c.2038A>G (p.Ile680Val)]

NM_006322.6(TUBGCP3):c.2038A>G (p.Ile680Val)

Gene:

TUBGCP3:tubulin gamma complex component 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

Preferred name:

NM_006322.6(TUBGCP3):c.2038A>G (p.Ile680Val)

HGVS:

NC_000013.11:g.112516488T>C
NM_001286277.2:c.2008A>G
NM_001286278.2:c.2038A>G
NM_006322.6:c.2038A>GMANE SELECT
NP_001273206.1:p.Ile670Val
NP_001273207.1:p.Ile680Val
NP_006313.1:p.Ile680Val
NC_000013.10:g.113170802T>C
NM_006322.4:c.2038A>G

Protein change:

I670V

Molecular consequence:

NM_001286277.2:c.2008A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001286278.2:c.2038A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006322.6:c.2038A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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SH3 and cysteine-rich domain-containing protein isoform X2 [Homo sapiens]
SH3 and cysteine-rich domain-containing protein isoform X2 [Homo sapiens]
gi|2462592108|ref|XP_054203606.1|

Protein
SAMN37584809 (1)
SRA

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004972832	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 13, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004972832

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 13, 2023)

germline

clinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004972832.1

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

Description

The c.2038A>G (p.I680V) alteration is located in exon 17 (coding exon 17) of the TUBGCP3 gene. This alteration results from a A to G substitution at nucleotide position 2038, causing the isoleucine (I) at amino acid position 680 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024

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