22-42132027-CTTTTTTTTTTTTT-CTTT
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The ENST00000617009.4(NDUFA6-DT):n.-3_7delTTTTTTTTTT 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 0.0000163 in 122,478 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000016 ( 0 hom., cov: 27)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
NDUFA6-DT
ENST00000617009.4 non_coding_transcript_exon
ENST00000617009.4 non_coding_transcript_exon
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.278
Publications
0 publications found
Genes affected
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
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-DT | ENST00000617009.4 | n.-3_7delTTTTTTTTTT | non_coding_transcript_exon_variant | Exon 1 of 5 | 5 | |||||
| NDUFA6-DT | ENST00000621190.1 | n.-3_7delTTTTTTTTTT | non_coding_transcript_exon_variant | Exon 1 of 8 | 5 | |||||
| NDUFA6-DT | ENST00000439129.5 | n.1719-4171_1719-4162delTTTTTTTTTT | intron_variant | Intron 5 of 6 | 5 |
Frequencies
GnomAD3 genomes 0.0000163 AC: 2AN: 122478Hom.: 0 Cov.: 27 show subpopulations
GnomAD3 genomes
AF:
AC:
2
AN:
122478
Hom.:
Cov.:
27
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 4Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 2
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
4
Hom.:
AF XY:
AC XY:
0
AN XY:
2
African (AFR)
AF:
AC:
0
AN:
2
American (AMR)
AC:
0
AN:
0
Ashkenazi Jewish (ASJ)
AC:
0
AN:
0
East Asian (EAS)
AC:
0
AN:
0
South Asian (SAS)
AC:
0
AN:
0
European-Finnish (FIN)
AC:
0
AN:
0
Middle Eastern (MID)
AC:
0
AN:
0
European-Non Finnish (NFE)
AF:
AC:
0
AN:
2
Other (OTH)
AC:
0
AN:
0
GnomAD4 genome 0.0000163 AC: 2AN: 122478Hom.: 0 Cov.: 27 AF XY: 0.0000174 AC XY: 1AN XY: 57468 show subpopulations
GnomAD4 genome
AF:
AC:
2
AN:
122478
Hom.:
Cov.:
27
AF XY:
AC XY:
1
AN XY:
57468
show subpopulations
African (AFR)
AF:
AC:
0
AN:
31356
American (AMR)
AF:
AC:
0
AN:
11422
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3244
East Asian (EAS)
AF:
AC:
0
AN:
4466
South Asian (SAS)
AF:
AC:
0
AN:
3894
European-Finnish (FIN)
AF:
AC:
1
AN:
4900
Middle Eastern (MID)
AF:
AC:
0
AN:
250
European-Non Finnish (NFE)
AF:
AC:
0
AN:
60460
Other (OTH)
AF:
AC:
1
AN:
1680
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.625
Heterozygous variant carriers
0
1
1
2
2
3
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Alfa
AF:
Hom.:
Bravo
AF:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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