rs10508606

Variant names:

• chr10-19987202-T-G
• rs10508606
• NM_032812.9:c.113-14573T>G

Variant summary

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

The NM_032812.9(PLXDC2):​c.113-14573T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0527 in 152,308 control chromosomes in the GnomAD database, including 275 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 0.053 (275 hom., cov: 32)
• Consequence: PLXDC2 NM_032812.9 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.238
• Publications: 0 publications found

Genes affected

PLXDC2 (HGNC:21013): (plexin domain containing 2) Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

ENSG00000307266 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0752 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_032812.9. 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
	PLXDC2	NM_032812.9	MANE Select	c.113-14573T>G		intron	N/A	NP_116201.7
	PLXDC2	NM_001282736.2		c.113-14573T>G		intron	N/A	NP_001269665.1	Q6UX71-2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PLXDC2	ENST00000377252.5	TSL:1 MANE Select	c.113-14573T>G		intron	N/A	ENSP00000366460.3	Q6UX71-1
	PLXDC2	ENST00000377242.7	TSL:1	c.113-14573T>G		intron	N/A	ENSP00000366450.3	Q6UX71-2
	PLXDC2	ENST00000888733.1		c.113-14573T>G		intron	N/A	ENSP00000558792.1

Frequencies

GnomAD3 genomes AF: 0.0528 AC: 8031 AN: 152190 Hom.: 275 Cov.: 32

Gnomad AFR AF: 0.0159

Gnomad AMI AF: 0.0702

Gnomad AMR AF: 0.0703

Gnomad ASJ AF: 0.0738

Gnomad EAS AF: 0.0129

Gnomad SAS AF: 0.0211

Gnomad FIN AF: 0.0402

Gnomad MID AF: 0.0981

Gnomad NFE AF: 0.0769

Gnomad OTH AF: 0.0578

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

GnomAD4 genome AF: 0.0527 AC: 8026 AN: 152308 Hom.: 275 Cov.: 32 AF XY: 0.0501 AC XY: 3735 AN XY: 74484

African (AFR) AF: 0.0158 AC: 657 AN: 41566

American (AMR) AF: 0.0702 AC: 1074 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.0738 AC: 256 AN: 3470

East Asian (EAS) AF: 0.0127 AC: 66 AN: 5178

South Asian (SAS) AF: 0.0211 AC: 102 AN: 4832

European-Finnish (FIN) AF: 0.0402 AC: 427 AN: 10626

Middle Eastern (MID) AF: 0.0918 AC: 27 AN: 294

European-Non Finnish (NFE) AF: 0.0769 AC: 5232 AN: 68018

Other (OTH) AF: 0.0572 AC: 121 AN: 2114

Alfa AF: 0.0656 Hom.: 201

Bravo AF: 0.0527

Asia WGS AF: 0.0170 AC: 60 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.7
DANN	Benign	0.67
PhyloP100		-0.24
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: rs10508606;

hg19: chr10-20276131;