rs10513025

Variant names:

• chr5-9623510-T-C
• rs10513025
• ENST00000504182.2:n.128A>G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000504182.2(ENSG00000248525):​n.128A>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0531 in 152,472 control chromosomes in the GnomAD database, including 315 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 (315 hom., cov: 32)
  • Exomes 𝑓: 0.031 (0 hom.)
• Consequence: ENSG00000248525 ENST00000504182.2 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.16

Genes affected

ENSG00000248525 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.105 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000248525	ENST00000504182.2	n.128A>G		non_coding_transcript_exon_variant	Exon 2 of 3	5

Frequencies

GnomAD3 genomes AF: 0.0531 AC: 8075 AN: 152162 Hom.: 312 Cov.: 32

Gnomad AFR AF: 0.107

Gnomad AMI AF: 0.0329

Gnomad AMR AF: 0.0324

Gnomad ASJ AF: 0.0522

Gnomad EAS AF: 0.000577

Gnomad SAS AF: 0.0371

Gnomad FIN AF: 0.0265

Gnomad MID AF: 0.0791

Gnomad NFE AF: 0.0342

Gnomad OTH AF: 0.0559

GnomAD4 exome AF: 0.0313 AC: 6 AN: 192 Hom.: 0 Cov.: 0 AF XY: 0.0273 AC XY: 3 AN XY: 110

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.00

Gnomad4 FIN exome AF: 0.0417

Gnomad4 NFE exome AF: 0.0294

Gnomad4 OTH exome AF: 0.125

GnomAD4 genome AF: 0.0532 AC: 8094 AN: 152280 Hom.: 315 Cov.: 32 AF XY: 0.0520 AC XY: 3868 AN XY: 74452

Gnomad4 AFR AF: 0.107

Gnomad4 AMR AF: 0.0323

Gnomad4 ASJ AF: 0.0522

Gnomad4 EAS AF: 0.000579

Gnomad4 SAS AF: 0.0369

Gnomad4 FIN AF: 0.0265

Gnomad4 NFE AF: 0.0342

Gnomad4 OTH AF: 0.0558

Alfa AF: 0.0362 Hom.: 162

Bravo AF: 0.0565

Asia WGS AF: 0.0230 AC: 81 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.73
DANN	Benign	0.62

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs10513025; hg19: chr5-9623622;