rs149291466

Variant names:

• chr9-94084600-C-A
• rs149291466
• NM_001253829.2:c.70C>A

Your query was ambiguous. Multiple possible variants found:

• chr9-94084600-C-A
• chr9-94084600-C-T

Variant summary

Our verdict is Likely benign. The variant received -1 ACMG points: 2P and 3B. PM2 BP4_Moderate BP7

The NM_001253829.2(PTPDC1):​c.70C>A​(p.Arg24Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 33)
• Consequence: PTPDC1 NM_001253829.2 synonymous
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.94
• Publications: 0 publications found

Genes affected

PTPDC1 (HGNC:30184): (protein tyrosine phosphatase domain containing 1) The protein encoded by this gene contains a characteristic motif of protein tyrosine phosphatases (PTPs). PTPs regulate activities of phosphoproteins through dephosphorylation. They are signaling molecules involved in the regulation of a wide variety of biological processes. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

ACMG classification

Our verdict: Likely_benign. The variant received -1 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.28).
• BP7: Synonymous conserved (PhyloP=2.94 with no splicing effect.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
PTPDC1	NM_001253829.2	c.70C>A	p.Arg24Arg	synonymous_variant	Exon 1 of 9	ENST00000620992.5	NP_001240758.1
PTPDC1	NM_152422.4	c.70C>A	p.Arg24Arg	synonymous_variant	Exon 1 of 9		NP_689635.3
PTPDC1	NM_177995.3	c.83-651C>A		intron_variant	Intron 2 of 9		NP_818931.1
PTPDC1	NM_001253830.2	c.83-651C>A		intron_variant	Intron 2 of 9		NP_001240759.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
PTPDC1	ENST00000620992.5	c.70C>A	p.Arg24Arg	synonymous_variant	Exon 1 of 9	2	NM_001253829.2	ENSP00000477817.1
PTPDC1	ENST00000288976.3	c.70C>A	p.Arg24Arg	synonymous_variant	Exon 1 of 9	1		ENSP00000288976.3
PTPDC1	ENST00000375360.7	c.83-651C>A		intron_variant	Intron 2 of 9	1		ENSP00000364509.3
PTPDC1	ENST00000650567.1	c.83-651C>A		intron_variant	Intron 3 of 10			ENSP00000497158.1

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome Cov.: 31

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.28
CADD	Benign	9.4
DANN	Benign	0.91
PhyloP100		2.9
PromoterAI		-0.0074	Neutral

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: rs149291466; hg19: chr9-96846882;