Variant rs267608321 details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The ENST00000617009.4(NDUFA6-DT):n.-3_10delTTTTTTTTTTTTT variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 27)

Consequence

NDUFA6-DT
ENST00000617009.4 non_coding_transcript_exon

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.278

Variant links:

Genes affected

NDUFA6-DT (HGNC:):

NDUFA6-DT links:

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2

Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
	use as main transcript	n.42132028_42132040delTTTTTTTTTTTTT		intergenic_region

Ensembl

Gene	Transcript	HGVSc	Effect	#exon/exons	TSL
NDUFA6-DT	ENST00000617009.4 linkuse as main transcript	n.-3_10delTTTTTTTTTTTTT	non_coding_transcript_exon_variant	1/5	5
NDUFA6-DT	ENST00000621190.1 linkuse as main transcript	n.-3_10delTTTTTTTTTTTTT	non_coding_transcript_exon_variant	1/8	5
NDUFA6-DT	ENST00000439129.5 linkuse as main transcript	n.1719-4171_1719-4159delTTTTTTTTTTTTT	intron_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.:

Bravo

AF:

0.00000756

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.