12-6442452-CAAAAAAAAAAAA-CAAAAA

Variant names:

• chr12-6442452-CAAAAAAA-C
• rs35471040
• ENST00000399492.6:n.656+1087_656+1093delTTTTTTT

Variant summary

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

The ENST00000399492.6(CD27-AS1):​n.656+1087_656+1093delTTTTTTT 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: not found (cov: 0)
• Consequence: CD27-AS1 ENST00000399492.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.29
• Publications: 0 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+1093delTTTTTTT		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+1087_656+1093delTTTTTTT		intron_variant	Intron 6 of 6	1
CD27-AS1	ENST00000417058.6	n.985+1087_985+1093delTTTTTTT		intron_variant	Intron 2 of 2	1
CD27-AS1	ENST00000537003.2	n.2151+1087_2151+1093delTTTTTTT		intron_variant	Intron 5 of 5	1

Frequencies

GnomAD3 genomes Cov.: 0

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

GnomAD4 genome Cov.: 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

Other links and lift over

dbSNP: rs35471040; hg19: chr12-6551618;