rs2068888

Variant names:

• chr10-93079885-G-A
• rs2068888

Your query was ambiguous. Multiple possible variants found:

• chr10-93079885-G-A
• chr10-93079885-G-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 0.427 in 152,010 control chromosomes in the GnomAD database, including 14,859 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 0.43 (14859 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.888

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.764 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

Frequencies

GnomAD3 genomes AF: 0.427 AC: 64903 AN: 151892 Hom.: 14873 Cov.: 32

Gnomad AFR AF: 0.288

Gnomad AMI AF: 0.384

Gnomad AMR AF: 0.461

Gnomad ASJ AF: 0.495

Gnomad EAS AF: 0.784

Gnomad SAS AF: 0.648

Gnomad FIN AF: 0.452

Gnomad MID AF: 0.399

Gnomad NFE AF: 0.455

Gnomad OTH AF: 0.439

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

GnomAD4 genome AF: 0.427 AC: 64883 AN: 152010 Hom.: 14859 Cov.: 32 AF XY: 0.434 AC XY: 32265 AN XY: 74300

Gnomad4 AFR AF: 0.287

Gnomad4 AMR AF: 0.461

Gnomad4 ASJ AF: 0.495

Gnomad4 EAS AF: 0.784

Gnomad4 SAS AF: 0.647

Gnomad4 FIN AF: 0.452

Gnomad4 NFE AF: 0.455

Gnomad4 OTH AF: 0.434

Alfa AF: 0.463 Hom.: 38075

Bravo AF: 0.419

Asia WGS AF: 0.648 AC: 2256 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	7.2
DANN	Benign	0.80

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2068888; hg19: chr10-94839642;