12-6442452-CAAAAAAAAAAAA-CAAAAAAAAA

Position:

• chr12-6442452-CAAAAAAAAAAAA-CAAAAAAAAA

Variant summary

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

The NR_015382.2(CD27-AS1):​n.1688+1091_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 0.0012 (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+1091_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+1091_631+1093del		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.00115 AC: 113 AN: 98414 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.00267

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00101

Gnomad ASJ AF: 0.000747

Gnomad EAS AF: 0.000292

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00135

Gnomad MID AF: 0.00476

Gnomad NFE AF: 0.000504

Gnomad OTH AF: 0.00225

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

GnomAD4 genome AF: 0.00119 AC: 117 AN: 98402 Hom.: 0 Cov.: 0 AF XY: 0.00109 AC XY: 50 AN XY: 45948

Gnomad4 AFR AF: 0.00274

Gnomad4 AMR AF: 0.00101

Gnomad4 ASJ AF: 0.000747

Gnomad4 EAS AF: 0.000293

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.00135

Gnomad4 NFE AF: 0.000504

Gnomad4 OTH AF: 0.00373

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;