rs28381975

chr3-33798239-C-CCCTGTGCATTACGTAchr3-33798239-C-CCCTGTGCATTCCGTAchr3-33798239-C-CCCTGTGCATTchr3-33798239-C-CCCTGTGCATTCTGTAchr3-33798239-C-CCCTGTGCATTTCGTA

Variant summary

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

The NR_183731.1(PDCD6IP-DT):n.125+155_125+156insTACGTAATGCACAGG 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: 20)
• Consequence: PDCD6IP-DT NR_183731.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.47

Genes affected

PDCD6IP-DT (HGNC:55244): (PDCD6IP divergent transcript)

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
PDCD6IP-DT	NR_183731.1	n.125+155_125+156insTACGTAATGCACAGG		intron_variant, non_coding_transcript_variant
PDCD6IP-DT	NR_183730.1	n.280_281insTACGTAATGCACAGG		non_coding_transcript_exon_variant	1/2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
PDCD6IP-DT	ENST00000604982.2	n.145+155_145+156insTACGTAATGCACAGG		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes Cov.: 20

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

GnomAD4 genome Cov.: 20

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: rs28381975; hg19: chr3-33839731;