rs2120902

Positions:

• chr10-68260465-T-C

Variant summary

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

The variant allele was found at a frequency of 0.139 in 152,570 control chromosomes in the GnomAD database, including 1,966 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 0.14 (1961 hom., cov: 32)
  • Exomes 𝑓: 0.18 (5 hom.)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.257

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.231 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.139 AC: 21106 AN: 152056 Hom.: 1960 Cov.: 32

Gnomad AFR AF: 0.0314

Gnomad AMI AF: 0.271

Gnomad AMR AF: 0.213

Gnomad ASJ AF: 0.223

Gnomad EAS AF: 0.151

Gnomad SAS AF: 0.242

Gnomad FIN AF: 0.201

Gnomad MID AF: 0.155

Gnomad NFE AF: 0.163

Gnomad OTH AF: 0.143

GnomAD4 exome AF: 0.177 AC: 70 AN: 396 Hom.: 5 AF XY: 0.176 AC XY: 49 AN XY: 278

Gnomad4 AFR exome AF: 0.00

Gnomad4 AMR exome AF: 0.500

Gnomad4 ASJ exome AF: 0.250

Gnomad4 EAS exome AF: 0.143

Gnomad4 SAS exome AF: 0.500

Gnomad4 FIN exome AF: 0.206

Gnomad4 NFE exome AF: 0.175

Gnomad4 OTH exome AF: 0.0833

GnomAD4 genome AF: 0.139 AC: 21115 AN: 152174 Hom.: 1961 Cov.: 32 AF XY: 0.144 AC XY: 10721 AN XY: 74394

Gnomad4 AFR AF: 0.0313

Gnomad4 AMR AF: 0.213

Gnomad4 ASJ AF: 0.223

Gnomad4 EAS AF: 0.151

Gnomad4 SAS AF: 0.242

Gnomad4 FIN AF: 0.201

Gnomad4 NFE AF: 0.163

Gnomad4 OTH AF: 0.143

Alfa AF: 0.152 Hom.: 249

Bravo AF: 0.136

Asia WGS AF: 0.173 AC: 603 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	2.9
DANN	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2120902; hg19: chr10-70020222;