Variant rs11387328 details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_031898.3(TEKT3):c.664-72del variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 0)

Consequence

TEKT3
NM_031898.3 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.0570

Variant links:

Genes affected

TEKT3 (HGNC:14293): (tektin 3) This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]

TEKT3 links:

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
TEKT3	NM_031898.3 linkuse as main transcript	c.664-72del		intron_variant		ENST00000395930.6

Ensembl

Gene	Transcript	HGVSc	Effect	TSL	MANE	Appris
TEKT3	ENST00000395930.6 linkuse as main transcript	c.664-72del	intron_variant	1	NM_031898.3	P1
TEKT3	ENST00000338696.6 linkuse as main transcript	c.664-72del	intron_variant	1		P1
TEKT3	ENST00000539245.5 linkuse as main transcript	c.166-72del	intron_variant	5
TEKT3	ENST00000395931.6 linkuse as main transcript	c.664-4940del	intron_variant, NMD_transcript_variant	5

Frequencies

GnomAD3 genomes

Cov.:

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome

Cov.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

Splicing