rs267608321

Variant names:

• chr22-42132027-CTTTTTTTTTTTTT-C
• rs267608321
• ENST00000617009.4:n.-3_10delTTTTTTTTTTTTT

Your query was ambiguous. Multiple possible variants found:

• chr22-42132027-CTTTTTTTTTTTTT-C
• chr22-42132027-CTTTTTTTTTTTTT-CT
• chr22-42132027-CTTTTTTTTTTTTT-CTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTTTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTTTTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTTTTTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTTTTTTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTTTTTTTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTTTTTTTTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTTTTTTTTTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTTTTTTTTTTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTTTTTTTTTTTTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTTTTTTTTTTTTTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTTTTTTTTTTTTTTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTTTTTTTTTTTTTTTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTTTTTTTTTTTTTTTTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTTTTTTTTTTTTTTTTTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTTTTTTTTTTTTTTTTTTT
• chr22-42132027-CTTTTTTTTTTTTT-CTTTTTTTTTTTTTTTTTTTTT

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
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.278
• Publications: 0 publications found

Genes affected

NDUFA6-DT (HGNC:45273): (NDUFA6 divergent transcript)

ACMG classification

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

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000617009.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	NDUFA6-DT	ENST00000617009.4	TSL:5	n.-3_10delTTTTTTTTTTTTT		non_coding_transcript_exon	Exon 1 of 5
	NDUFA6-DT	ENST00000621190.1	TSL:5	n.-3_10delTTTTTTTTTTTTT		non_coding_transcript_exon	Exon 1 of 8
	NDUFA6-DT	ENST00000439129.5	TSL:5	n.1719-4171_1719-4159delTTTTTTTTTTTTT		intron	N/A

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 v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.28

Splicing

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

Other links and lift over

dbSNP: rs267608321;