rs35471040

Positions:

• chr12-6442452-CAAAAAAAAAAAA-C
• chr12-6442452-CAAAAAAAAAAAA-CAAAAAA
• chr12-6442452-CAAAAAAAAAAAA-CAAAAAAA
• chr12-6442452-CAAAAAAAAAAAA-CAAAAAAAA
• chr12-6442452-CAAAAAAAAAAAA-CAAAAAAAAA
• chr12-6442452-CAAAAAAAAAAAA-CAAAAAAAAAA
• chr12-6442452-CAAAAAAAAAAAA-CAAAAAAAAAAA
• chr12-6442452-CAAAAAAAAAAAA-CAAAAAAAAAAAAA
• chr12-6442452-CAAAAAAAAAAAA-CAAAAAAAAAAAAAA
• chr12-6442452-CAAAAAAAAAAAA-CAAAAAAAAAAAAAAA
• chr12-6442452-CAAAAAAAAAAAA-CAAAAAAAAAAAAAAAA
• chr12-6442452-CAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAA
• chr12-6442452-CAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAA
• chr12-6442452-CAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAA

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NR_015382.2(CD27-AS1):​n.1688+1082_1688+1093del variant causes a intron, non coding transcript 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 0.000030 (0 hom., cov: 0)
• Consequence: CD27-AS1 NR_015382.2 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.29

Genes affected

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

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CD27-AS1	NR_015382.2	n.1688+1082_1688+1093del		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CD27-AS1	ENST00000689782.1	n.631+1082_631+1093del		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.0000305 AC: 3 AN: 98438 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.0000398

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.000363

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00

Gnomad OTH AF: 0.000750

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

GnomAD4 genome AF: 0.0000305 AC: 3 AN: 98426 Hom.: 0 Cov.: 0 AF XY: 0.0000435 AC XY: 2 AN XY: 45960

Gnomad4 AFR AF: 0.0000398

Gnomad4 AMR AF: 0.00

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.000365

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.00

Gnomad4 OTH AF: 0.000745

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs35471040; hg19: chr12-6551618;