GeneBe

12-6442452-CAAAAAAAAAAAA-CAAAAAAAA

Variant names:

Variant summary

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

The ENST00000399492.6(CD27-AS1):​n.656+1090_656+1093delTTTT variant causes a intron 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 0.0024 ( 1 hom., cov: 0)

Consequence

CD27-AS1
ENST00000399492.6 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.29

Publications

1 publications found
Variant links:
Genes affected
CD27-AS1 (HGNC:43896): (CD27 antisense RNA 1)

Genome browser will be placed here

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
CD27-AS1NR_015382.2 linkn.1688+1090_1688+1093delTTTT intron_variant Intron 5 of 5

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
CD27-AS1ENST00000399492.6 linkn.656+1090_656+1093delTTTT intron_variant Intron 6 of 6 1
CD27-AS1ENST00000417058.6 linkn.985+1090_985+1093delTTTT intron_variant Intron 2 of 2 1
CD27-AS1ENST00000537003.2 linkn.2151+1090_2151+1093delTTTT intron_variant Intron 5 of 5 1

Frequencies

GnomAD3 genomes
AF:
0.00245
AC:
241
AN:
98426
Hom.:
1
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.00820
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00292
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.000270
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.000101
Gnomad OTH
AF:
0.00225
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.00245
AC:
241
AN:
98414
Hom.:
1
Cov.:
0
AF XY:
0.00246
AC XY:
113
AN XY:
45956
show subpopulations
African (AFR)
AF:
0.00819
AC:
206
AN:
25150
American (AMR)
AF:
0.00292
AC:
26
AN:
8906
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
2682
East Asian (EAS)
AF:
0.00
AC:
0
AN:
3418
South Asian (SAS)
AF:
0.00
AC:
0
AN:
2736
European-Finnish (FIN)
AF:
0.000270
AC:
1
AN:
3706
Middle Eastern (MID)
AF:
0.00
AC:
0
AN:
192
European-Non Finnish (NFE)
AF:
0.000101
AC:
5
AN:
49570
Other (OTH)
AF:
0.00224
AC:
3
AN:
1342
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.521
Heterozygous variant carriers
0
10
21
31
42
52
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Variant carriers
0
4
8
12
16
20
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
Alfa
AF:
0.00
Hom.:
0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
1.3

Splicing

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

Publications

Other links and lift over

dbSNP: rs35471040; hg19: chr12-6551618; API