Genetic Variant CD27-AS1:n.656+1093_656+1094insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT (chr12-6442452-C-CAAAAAAAAAAAAAAAAAAAAAACAAAAAAAA) – ACMG Classification: Uncertain_significance (0 pts)

Variant summary

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

The ENST00000399492.6(CD27-AS1):n.656+1093_656+1094insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. It is difficult to determine the true allele frequency of this variant because it is of type INS_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: 𝑓 0.000010 ( 0 hom., cov: 0)

Consequence

CD27-AS1
ENST00000399492.6 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.569

Publications

0 publications found

Variant links:

Genes affected

CD27-AS1 (HGNC:43896): (CD27 antisense RNA 1)

CD27-AS1 links:

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-AS1	NR_015382.2 link	n.1688+1093_1688+1094insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT		intron_variant	Intron 5 of 5

Ensembl

Gene	Transcript	HGVSc	Effect	Exon rank	TSL
CD27-AS1	ENST00000399492.6 link	n.656+1093_656+1094insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant	Intron 6 of 6	1
CD27-AS1	ENST00000417058.6 link	n.985+1093_985+1094insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant	Intron 2 of 2	1
CD27-AS1	ENST00000537003.2 link	n.2151+1093_2151+1094insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant	Intron 5 of 5	1

Frequencies

GnomAD3 genomes

AF:

0.0000102

AC:

AN:

98438

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.00

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.00

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:

0.0000202

Gnomad OTH

AF:

0.00

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome

AF:

0.0000102

AC:

AN:

98438

Hom.:

Cov.:

AF XY:

0.0000218

AC XY:

AN XY:

45946

show subpopulations

African (AFR)

AF:

0.00

AC:

AN:

25126

American (AMR)

AF:

0.00

AC:

AN:

8900

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

2682

East Asian (EAS)

AF:

0.00

AC:

AN:

3430

South Asian (SAS)

AF:

0.00

AC:

AN:

2754

European-Finnish (FIN)

AF:

0.00

AC:

AN:

3706

Middle Eastern (MID)

AF:

0.00

AC:

AN:

210

European-Non Finnish (NFE)

AF:

0.0000202

AC:

AN:

49584

Other (OTH)

AF:

0.00

AC:

AN:

1334

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.825

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

PhyloP100

-0.57

Splicing

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

Publications

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12-6442452-CAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAA

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Computational scores

Splicing

Publications

Other links and lift over