22-42132027-CTTTTTTTTTTTTT-CTTTTTT

Position:

• chr22-42132027-CTTTTTTTTTTTTT-CTTTTTT

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2

The ENST00000617009.4(NDUFA6-DT):​n.-3_4delTTTTTTT variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00106 in 122,460 control chromosomes in the GnomAD database, including 4 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.0011 (4 hom., cov: 27)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: NDUFA6-DT ENST00000617009.4 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.278

Genes affected

NDUFA6-DT (HGNC:):

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BS2: High Homozygotes in GnomAd4 at 4 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.42132028_42132034delTTTTTTT		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
NDUFA6-DT	ENST00000617009.4	n.-3_4delTTTTTTT		non_coding_transcript_exon_variant	1/5	5
NDUFA6-DT	ENST00000621190.1	n.-3_4delTTTTTTT		non_coding_transcript_exon_variant	1/8	5
NDUFA6-DT	ENST00000439129.5	n.1719-4171_1719-4165delTTTTTTT		intron_variant		5

Frequencies

GnomAD3 genomes AF: 0.00104 AC: 127 AN: 122474 Hom.: 4 Cov.: 27

Gnomad AFR AF: 0.00306

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000175

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.000224

Gnomad SAS AF: 0.00154

Gnomad FIN AF: 0.000612

Gnomad MID AF: 0.00800

Gnomad NFE AF: 0.000265

Gnomad OTH AF: 0.000595

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 4 Hom.: 0 AF XY: 0.00 AC XY: 0 AN XY: 2

Gnomad4 AFR exome AF: 0.00

Gnomad4 NFE exome AF: 0.00

GnomAD4 genome AF: 0.00106 AC: 130 AN: 122460 Hom.: 4 Cov.: 27 AF XY: 0.00120 AC XY: 69 AN XY: 57492

Gnomad4 AFR AF: 0.00315

Gnomad4 AMR AF: 0.000175

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.000225

Gnomad4 SAS AF: 0.00155

Gnomad4 FIN AF: 0.000612

Gnomad4 NFE AF: 0.000265

Gnomad4 OTH AF: 0.000594

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: rs267608321; hg19: -;