9-9474970-A-C

Variant names:

• chr9-9474970-A-C
• rs16929560
• NM_002839.4:c.-236-77488T>G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_002839.4(PTPRD):​c.-236-77488T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.587 in 151,700 control chromosomes in the GnomAD database, including 26,605 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.59 (26605 hom., cov: 31)
• Consequence: PTPRD NM_002839.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.417
• Publications: 3 publications found

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

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.673 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_002839.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PTPRD	NM_002839.4	MANE Select	c.-236-77488T>G		intron	N/A	NP_002830.1	P23468-1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PTPRD	ENST00000381196.9	TSL:5 MANE Select	c.-236-77488T>G		intron	N/A	ENSP00000370593.3	P23468-1
	PTPRD	ENST00000463477.5	TSL:1	c.-308-60147T>G		intron	N/A	ENSP00000417661.1	C9J8S8
	PTPRD	ENST00000850942.1		c.-236-77488T>G		intron	N/A	ENSP00000521027.1

Frequencies

GnomAD3 genomes AF: 0.587 AC: 88933 AN: 151580 Hom.: 26599 Cov.: 31

Gnomad AFR AF: 0.469

Gnomad AMI AF: 0.700

Gnomad AMR AF: 0.626

Gnomad ASJ AF: 0.690

Gnomad EAS AF: 0.692

Gnomad SAS AF: 0.615

Gnomad FIN AF: 0.615

Gnomad MID AF: 0.660

Gnomad NFE AF: 0.627

Gnomad OTH AF: 0.620

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

GnomAD4 genome AF: 0.587 AC: 88982 AN: 151700 Hom.: 26605 Cov.: 31 AF XY: 0.589 AC XY: 43632 AN XY: 74120

African (AFR) AF: 0.469 AC: 19390 AN: 41334

American (AMR) AF: 0.627 AC: 9550 AN: 15240

Ashkenazi Jewish (ASJ) AF: 0.690 AC: 2392 AN: 3468

East Asian (EAS) AF: 0.692 AC: 3544 AN: 5122

South Asian (SAS) AF: 0.615 AC: 2969 AN: 4828

European-Finnish (FIN) AF: 0.615 AC: 6476 AN: 10530

Middle Eastern (MID) AF: 0.654 AC: 191 AN: 292

European-Non Finnish (NFE) AF: 0.627 AC: 42526 AN: 67874

Other (OTH) AF: 0.622 AC: 1308 AN: 2104

Alfa AF: 0.617 Hom.: 121454

Bravo AF: 0.584

Asia WGS AF: 0.637 AC: 2212 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	3.6
DANN	Benign	0.40
PhyloP100		0.42
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs16929560; hg19: chr9-9474970;