rs5920840

chrX-100661597-T-C

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_Strong BS2

The NM_014467.3(SRPX2):c.164-579T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. 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 0.78 (24057 hom., 24870 hem., cov: 22)
  • Failed GnomAD Quality Control
• Consequence: SRPX2 NM_014467.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.514

Genes affected

SRPX2 (HGNC:30668): (sushi repeat containing protein X-linked 2) This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and cognitive disability. [provided by RefSeq, May 2010]

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BS2: High Homozygotes in GnomAd at 24070 XL gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SRPX2	NM_014467.3	c.164-579T>C		intron_variant		ENST00000373004.5

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SRPX2	ENST00000373004.5	c.164-579T>C		intron_variant		1	NM_014467.3	P1

Frequencies

GnomAD3 genomes AF: 0.777 AC: 85373 AN: 109920 Hom.: 24070 Cov.: 22 AF XY: 0.772 AC XY: 24838 AN XY: 32166

Gnomad AFR AF: 0.611

Gnomad AMI AF: 0.884

Gnomad AMR AF: 0.747

Gnomad ASJ AF: 0.914

Gnomad EAS AF: 0.734

Gnomad SAS AF: 0.676

Gnomad FIN AF: 0.884

Gnomad MID AF: 0.882

Gnomad NFE AF: 0.865

Gnomad OTH AF: 0.781

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

GnomAD4 genome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.776 AC: 85388 AN: 109968 Hom.: 24057 Cov.: 22 AF XY: 0.772 AC XY: 24870 AN XY: 32224

Gnomad4 AFR AF: 0.611

Gnomad4 AMR AF: 0.746

Gnomad4 ASJ AF: 0.914

Gnomad4 EAS AF: 0.734

Gnomad4 SAS AF: 0.678

Gnomad4 FIN AF: 0.884

Gnomad4 NFE AF: 0.865

Gnomad4 OTH AF: 0.779

Alfa AF: 0.820 Hom.: 6977

Bravo AF: 0.763

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	0.94
Dann	Benign	0.25

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

Publications

LitVar

Other links and lift over

dbSNP: rs5920840; hg19: chrX-99916594;