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NM_006322.6(TUBGCP3):c.316A>G (p.Arg106Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 5, 2022
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:
RCV004179189.1

Allele description [Variation Report for NM_006322.6(TUBGCP3):c.316A>G (p.Arg106Gly)]

NM_006322.6(TUBGCP3):c.316A>G (p.Arg106Gly)

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.316A>G (p.Arg106Gly)
HGVS:
  • NC_000013.11:g.112559336T>C
  • NM_001286277.2:c.316A>G
  • NM_001286278.2:c.316A>G
  • NM_001286279.2:c.316A>G
  • NM_006322.6:c.316A>GMANE SELECT
  • NP_001273206.1:p.Arg106Gly
  • NP_001273207.1:p.Arg106Gly
  • NP_001273208.1:p.Arg106Gly
  • NP_006313.1:p.Arg106Gly
  • NC_000013.10:g.113213650T>C
  • NM_006322.4:c.316A>G
Protein change:
R106G
Molecular consequence:
  • NM_001286277.2:c.316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286278.2:c.316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286279.2:c.316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006322.6:c.316A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003671691Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 5, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003671691.2

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

Description

The c.316A>G (p.R106G) alteration is located in exon 4 (coding exon 4) of the TUBGCP3 gene. This alteration results from a A to G substitution at nucleotide position 316, causing the arginine (R) at amino acid position 106 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024