12-6442452-CAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAA

Variant names:

• chr12-6442452-C-CAAAAAAA
• rs35471040
• ENST00000399492.6:n.656+1093_656+1094insTTTTTTT

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+1094insTTTTTTT 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 0.0 (0 hom., cov: 0)
  • Failed GnomAD Quality Control
• Consequence: CD27-AS1 ENST00000399492.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.569
• Publications: 1 publications found

Genes affected

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

ACMG classification

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	n.1688+1087_1688+1093dupTTTTTTT		intron_variant	Intron 5 of 5

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CD27-AS1	ENST00000399492.6	n.656+1093_656+1094insTTTTTTT		intron_variant	Intron 6 of 6	1
CD27-AS1	ENST00000417058.6	n.985+1093_985+1094insTTTTTTT		intron_variant	Intron 2 of 2	1
CD27-AS1	ENST00000537003.2	n.2151+1093_2151+1094insTTTTTTT		intron_variant	Intron 5 of 5	1

Frequencies

GnomAD3 genomes AF: 0.00 AC: 0 AN: 98436 Hom.: 0 Cov.: 0

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: 0.00

Gnomad OTH AF: 0.00

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

GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 98436 Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0 AN XY: 45944

African (AFR) AF: 0.00 AC: 0 AN: 25126

American (AMR) AF: 0.00 AC: 0 AN: 8900

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 2682

East Asian (EAS) AF: 0.00 AC: 0 AN: 3430

South Asian (SAS) AF: 0.00 AC: 0 AN: 2754

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 3706

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 210

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 49582

Other (OTH) AF: 0.00 AC: 0 AN: 1334

Alfa AF: 0.00 Hom.: 0

Bravo AF: 0.00000378

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

Other links and lift over

dbSNP: rs35471040; hg19: chr12-6551618;