rs3215098

chr9-8331574-A-AAACTTACCATTCATGAACTGTchr9-8331574-A-AAACTTACCATTCCTGAACTGTAACTchr9-8331574-A-AAACTTACCATTCCTGAACTGTAACTTchr9-8331574-A-AAACTTACCATTCCTGAACTGTchr9-8331574-A-AAACTTACCATTCCTGAACTGTAACTTACCTGCAAGTchr9-8331574-A-AAACTTACCATTCTCGAACTGTchr9-8331574-A-AAACTTACCATTCTTGAACTATchr9-8331574-A-AAACTTACCATTCTTGAACTGAAACTTACCATTCTTGAACTGTchr9-8331574-A-AAACTTACCATTCTTGAACTGTAACTAACTchr9-8331574-A-AAACTTACCATTCTTGAACTGTAACTchr9-8331574-A-AAACTTACCATTCTTGAACTGTchr9-8331574-A-AAACTTACCATTGTTGAACTGTchr9-8331574-A-AAACTTACCCTTCTTGAACTGTAACT

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_002839.4(PTPRD):c.5534+7_5534+8insACAGTTCATGAATGGTAAGTT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 0)
• Consequence: PTPRD NM_002839.4 splice_region, intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.111

Genes affected

PTPRD (HGNC:9668): (protein tyrosine phosphatase receptor type D) The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010]

ACMG classification

Verdict is Uncertain_significance. Variant got 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
PTPRD	NM_002839.4	c.5534+7_5534+8insACAGTTCATGAATGGTAAGTT		splice_region_variant, intron_variant		ENST00000381196.9

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
PTPRD	ENST00000381196.9	c.5534+7_5534+8insACAGTTCATGAATGGTAAGTT		splice_region_variant, intron_variant		5	NM_002839.4	P1

Frequencies

GnomAD3 genomes Cov.: 0

GnomAD4 exome Cov.: 35

GnomAD4 genome Cov.: 0

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: rs3215098; hg19: chr9-8331574;