16-19067270-TAAAAA-TAAAAAA

Variant names:

• chr16-19067270-T-TA
• rs5816026
• ENST00000666887.1:n.162dupT

Variant summary

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

The ENST00000666887.1(COQ7-DT):​n.162dupT variant causes a non coding transcript exon 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: 𝑓 0.000053 (0 hom., cov: 0)
  • Exomes 𝑓: 0.0027 (0 hom.)
• Consequence: COQ7-DT ENST00000666887.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.998

Genes affected

COQ7-DT (HGNC:55362): (COQ7 divergent transcript)

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
COQ7-DT	NR_119379.1	n.111+310dupT		intron_variant	Intron 1 of 3
COQ7-DT	NR_119380.1	n.141+280dupT		intron_variant	Intron 1 of 2
COQ7-DT	NR_119381.1	n.111+310dupT		intron_variant	Intron 1 of 2
COQ7-DT	NR_119382.1	n.166+47dupT		intron_variant	Intron 1 of 2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
COQ7-DT	ENST00000666887.1	n.162dupT		non_coding_transcript_exon_variant	Exon 1 of 3
COQ7-DT	ENST00000567047.1	n.111+310dupT		intron_variant	Intron 1 of 2	2
COQ7-DT	ENST00000568971.5	n.91+280dupT		intron_variant	Intron 1 of 2	2

Frequencies

GnomAD3 genomes AF: 0.0000532 AC: 8 AN: 150432 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.000123

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0000662

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000295

Gnomad OTH AF: 0.00

GnomAD4 exome AF: 0.00270 AC: 44 AN: 16282 Hom.: 0 Cov.: 0 AF XY: 0.00285 AC XY: 26 AN XY: 9130

Gnomad4 AFR exome AF: 0.00559

Gnomad4 AMR exome AF: 0.00395

Gnomad4 ASJ exome AF: 0.00761

Gnomad4 EAS exome AF: 0.00

Gnomad4 SAS exome AF: 0.00296

Gnomad4 FIN exome AF: 0.00340

Gnomad4 NFE exome AF: 0.00237

Gnomad4 OTH exome AF: 0.00108

GnomAD4 genome AF: 0.0000532 AC: 8 AN: 150432 Hom.: 0 Cov.: 0 AF XY: 0.0000546 AC XY: 4 AN XY: 73304

Gnomad4 AFR AF: 0.000123

Gnomad4 AMR AF: 0.0000662

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.0000295

Gnomad4 OTH AF: 0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs5816026; hg19: chr16-19078592;