rs3219515

chr8-56448615-GGTGTGTGTGTGTGTGTGTGTGTGTT-GTGTGTGTGTGTGTGTGTGTGTGchr8-56448615-GGTGTGTGTGTGTGTGTGTGTGTGTT-GTGTGTGTGTGTGTGTGTGTGTGTGchr8-56448615-GGTGTGTGTGTGTGTGTGTGTGTGTT-GTGTGTGTGTGTGTGTGTGTGTGTGTG

Variant summary

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

The NR_125813.1(PENK-AS1):n.694+2116_694+2140delinsTGTGTGTGTGTGTGTGTGTGTG 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: not found (cov: 30)
• Consequence: PENK-AS1 NR_125813.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.57

Genes affected

PENK-AS1 (HGNC:55519): (PENK antisense RNA 1)

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
PENK-AS1	NR_125813.1	n.694+2116_694+2140delinsTGTGTGTGTGTGTGTGTGTGTG		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
PENK-AS1	ENST00000662661.1	n.264+2116_264+2140delinsTGTGTGTGTGTGTGTGTGTGTG		intron_variant, non_coding_transcript_variant
PENK-AS1	ENST00000518662.5	n.694+2116_694+2140delinsTGTGTGTGTGTGTGTGTGTGTG		intron_variant, non_coding_transcript_variant		2
PENK-AS1	ENST00000685796.1	n.657+2116_657+2140delinsTGTGTGTGTGTGTGTGTGTGTG		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes Cov.: 30

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

GnomAD4 genome Cov.: 30

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: rs3219515; hg19: chr8-57361175;