12-6444664-T-TG

Position:

• chr12-6444664-T-TG

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_Moderate BA1

The NR_015382.2(CD27-AS1):​n.1517-948_1517-947insC variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.28 (1866 hom., cov: 0)
• Consequence: CD27-AS1 NR_015382.2 intron, non_coding_transcript
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -2.06

Genes affected

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

CD27 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP6: Variant 12-6444664-T-TG is Benign according to our data. Variant chr12-6444664-T-TG is described in ClinVar as [Benign]. Clinvar id is 1260079.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.399 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CD27-AS1	NR_015382.2	n.1517-948_1517-947insC		intron_variant, non_coding_transcript_variant
CD27	NM_001413266.1	c.-315+554dup		intron_variant			NP_001400195.1
CD27	NM_001413267.1	c.-403+554dup		intron_variant			NP_001400196.1
CD27	NM_001413268.1	c.-315+66dup		intron_variant			NP_001400197.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CD27-AS1	ENST00000689782.1	n.460-948_460-947insC		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.275 AC: 19469 AN: 70710 Hom.: 1861 Cov.: 0

Gnomad AFR AF: 0.177

Gnomad AMI AF: 0.471

Gnomad AMR AF: 0.338

Gnomad ASJ AF: 0.376

Gnomad EAS AF: 0.423

Gnomad SAS AF: 0.195

Gnomad FIN AF: 0.307

Gnomad MID AF: 0.307

Gnomad NFE AF: 0.289

Gnomad OTH AF: 0.300

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

GnomAD4 genome AF: 0.275 AC: 19474 AN: 70720 Hom.: 1866 Cov.: 0 AF XY: 0.272 AC XY: 8793 AN XY: 32270

Gnomad4 AFR AF: 0.177

Gnomad4 AMR AF: 0.340

Gnomad4 ASJ AF: 0.376

Gnomad4 EAS AF: 0.423

Gnomad4 SAS AF: 0.194

Gnomad4 FIN AF: 0.307

Gnomad4 NFE AF: 0.289

Gnomad4 OTH AF: 0.302

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Jun 19, 2021

- -

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: rs57782770; hg19: chr12-6553830;