rs1635239

chrX-3314658-C-AchrX-3314658-C-G

Variant summary

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

The NM_015419.4(MXRA5):c.6578+2445G>T 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 0.61 (14654 hom., 18926 hem., cov: 21)
  • Failed GnomAD Quality Control
• Consequence: MXRA5 NM_015419.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.202

Genes affected

MXRA5 (HGNC:7539): (matrix remodeling associated 5) This gene encodes one of the matrix-remodelling associated proteins. This protein contains 7 leucine-rich repeats and 12 immunoglobulin-like C2-type domains related to perlecan. This gene has a pseudogene on chromosome Y. [provided by RefSeq, Mar 2010]

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BS2: High Homozygotes in GnomAd at 14667 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
MXRA5	NM_015419.4	c.6578+2445G>T		intron_variant		ENST00000217939.7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
MXRA5	ENST00000217939.7	c.6578+2445G>T		intron_variant		5	NM_015419.4	P1

Frequencies

GnomAD3 genomes AF: 0.611 AC: 66328 AN: 108600 Hom.: 14667 Cov.: 21 AF XY: 0.610 AC XY: 18901 AN XY: 31008

Gnomad AFR AF: 0.514

Gnomad AMI AF: 0.696

Gnomad AMR AF: 0.641

Gnomad ASJ AF: 0.609

Gnomad EAS AF: 0.738

Gnomad SAS AF: 0.646

Gnomad FIN AF: 0.643

Gnomad MID AF: 0.671

Gnomad NFE AF: 0.645

Gnomad OTH AF: 0.621

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: 0.610 AC: 66328 AN: 108659 Hom.: 14654 Cov.: 21 AF XY: 0.609 AC XY: 18926 AN XY: 31077

Gnomad4 AFR AF: 0.514

Gnomad4 AMR AF: 0.641

Gnomad4 ASJ AF: 0.609

Gnomad4 EAS AF: 0.737

Gnomad4 SAS AF: 0.643

Gnomad4 FIN AF: 0.643

Gnomad4 NFE AF: 0.645

Gnomad4 OTH AF: 0.614

Alfa AF: 0.629 Hom.: 5442

Bravo AF: 0.607

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
Cadd	Benign	6.0
Dann	Benign	0.59

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: rs1635239; hg19: chrX-3232699;