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NM_020461.4(TUBGCP6):c.3821C>T (p.Pro1274Leu) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 27, 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:
RCV002545137.2

Allele description [Variation Report for NM_020461.4(TUBGCP6):c.3821C>T (p.Pro1274Leu)]

NM_020461.4(TUBGCP6):c.3821C>T (p.Pro1274Leu)

Gene:
TUBGCP6:tubulin gamma complex component 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_020461.4(TUBGCP6):c.3821C>T (p.Pro1274Leu)
HGVS:
  • NC_000022.11:g.50220538G>A
  • NG_032160.1:g.29434C>T
  • NM_020461.3:c.3821C>T
  • NM_020461.4:c.3821C>TMANE SELECT
  • NP_065194.3:p.Pro1274Leu
  • NC_000022.10:g.50658967G>A
Protein change:
P1274L
Links:
dbSNP: rs372985169
NCBI 1000 Genomes Browser:
rs372985169
Molecular consequence:
  • NM_020461.4:c.3821C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003645408Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 27, 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, SCV003645408.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024