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NM_020461.4(TUBGCP6):c.3741C>A (p.Asp1247Glu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 26, 2021
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:
RCV002550042.2

Allele description [Variation Report for NM_020461.4(TUBGCP6):c.3741C>A (p.Asp1247Glu)]

NM_020461.4(TUBGCP6):c.3741C>A (p.Asp1247Glu)

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.3741C>A (p.Asp1247Glu)
HGVS:
  • NC_000022.11:g.50220618G>T
  • NG_032160.1:g.29354C>A
  • NM_020461.3:c.3741C>A
  • NM_020461.4:c.3741C>AMANE SELECT
  • NP_065194.3:p.Asp1247Glu
  • NC_000022.10:g.50659047G>T
Protein change:
D1247E
Links:
dbSNP: rs147606883
NCBI 1000 Genomes Browser:
rs147606883
Molecular consequence:
  • NM_020461.4:c.3741C>A - 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
SCV003592447Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 26, 2021) 		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, SCV003592447.2

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

Description

The c.3741C>A (p.D1247E) alteration is located in exon 16 (coding exon 16) of the TUBGCP6 gene. This alteration results from a C to A substitution at nucleotide position 3741, causing the aspartic acid (D) at amino acid position 1247 to be replaced by a glutamic acid (E). 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: Sep 29, 2024