GeneBe

rs267608321

Variant names:

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

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. It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. 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

Publications

0 publications found
Variant links:
Genes affected
NDUFA6-DT (HGNC:45273): (NDUFA6 divergent transcript)

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ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
NDUFA6-DTENST00000617009.4 linkn.-3_10delTTTTTTTTTTTTT non_coding_transcript_exon_variant Exon 1 of 5 5
NDUFA6-DTENST00000621190.1 linkn.-3_10delTTTTTTTTTTTTT non_coding_transcript_exon_variant Exon 1 of 8 5
NDUFA6-DTENST00000439129.5 linkn.1719-4171_1719-4159delTTTTTTTTTTTTT intron_variant Intron 5 of 6 5

Frequencies

GnomAD3 genomes
Cov.:
27
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
Cov.:
27
Alfa
AF:
0.00
Hom.:
0
Bravo
AF:
0.00000756

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.28

Splicing

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

Publications

Other links and lift over

dbSNP: rs267608321; hg19: -; API