6-14734110-C-CAGA

Variant names:

Variant summary

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

The ENST00000629853.2(ENSG00000234261):n.313+55879_313+55880insTCT 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

ENSG00000234261
ENST00000629853.2 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.507

Variant links:

Genes affected

ENSG00000234261 (HGNC:):

ENSG00000234261 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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	Effect	Exon rank	TSL
ENSG00000234261	ENST00000629853.2 link	n.313+55879_313+55880insTCT	intron_variant	Intron 3 of 3	5
ENSG00000234261	ENST00000689305.1 link	n.230+6889_230+6890insTCT	intron_variant	Intron 2 of 2
ENSG00000234261	ENST00000702363.1 link	n.187-2633_187-2632insTCT	intron_variant	Intron 1 of 1

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

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.