chr20-42212139-A-G

Variant names:

• chr20-42212139-A-G
• rs7345986
• NM_007050.6:c.2343-12751T>C

Variant summary

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

The NM_007050.6(PTPRT):​c.2343-12751T>C variant causes a intron change. 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 0.62 (21241 hom., cov: 13)
• Consequence: PTPRT NM_007050.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: 2 publications found

Genes affected

PTPRT (HGNC:9682): (protein tyrosine phosphatase receptor type T) 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 possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]

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 (AFR) allele frequency at 95% confidence interval = 0.767 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_007050.6. 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
	PTPRT	NM_007050.6	MANE Select	c.2343-12751T>C		intron	N/A	NP_008981.4
	PTPRT	NM_001394024.1		c.2343-12751T>C		intron	N/A	NP_001380953.1
	PTPRT	NM_133170.4		c.2400-12751T>C		intron	N/A	NP_573400.3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PTPRT	ENST00000373187.6	TSL:1 MANE Select	c.2343-12751T>C		intron	N/A	ENSP00000362283.1	O14522-3
	PTPRT	ENST00000373193.7	TSL:1	c.2400-12742T>C		intron	N/A	ENSP00000362289.4	O14522-1
	PTPRT	ENST00000373198.8	TSL:1	c.2400-12751T>C		intron	N/A	ENSP00000362294.4	A0A075B6H0

Frequencies

GnomAD3 genomes AF: 0.623 AC: 66927 AN: 107482 Hom.: 21232 Cov.: 13

Gnomad AFR AF: 0.776

Gnomad AMI AF: 0.667

Gnomad AMR AF: 0.589

Gnomad ASJ AF: 0.547

Gnomad EAS AF: 0.386

Gnomad SAS AF: 0.459

Gnomad FIN AF: 0.667

Gnomad MID AF: 0.601

Gnomad NFE AF: 0.575

Gnomad OTH AF: 0.604

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

GnomAD4 genome AF: 0.623 AC: 66955 AN: 107542 Hom.: 21241 Cov.: 13 AF XY: 0.622 AC XY: 31102 AN XY: 50012

African (AFR) AF: 0.776 AC: 21213 AN: 27344

American (AMR) AF: 0.589 AC: 5820 AN: 9886

Ashkenazi Jewish (ASJ) AF: 0.547 AC: 1606 AN: 2938

East Asian (EAS) AF: 0.384 AC: 1148 AN: 2990

South Asian (SAS) AF: 0.460 AC: 1228 AN: 2672

European-Finnish (FIN) AF: 0.667 AC: 2674 AN: 4010

Middle Eastern (MID) AF: 0.586 AC: 123 AN: 210

European-Non Finnish (NFE) AF: 0.575 AC: 31799 AN: 55338

Other (OTH) AF: 0.601 AC: 840 AN: 1398

Alfa AF: 0.599 Hom.: 1994

Bravo AF: 0.625

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.88
DANN	Benign	0.48
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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs7345986; hg19: chr20-40840779;