rs10762201

Variant names:

• chr10-68280354-A-G
• rs10762201

Your query was ambiguous. Multiple possible variants found:

• chr10-68280354-A-G
• chr10-68280354-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.642 in 151,940 control chromosomes in the GnomAD database, including 32,915 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 0.64 (32915 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.591
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.753 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: 0.642 AC: 97495 AN: 151822 Hom.: 32896 Cov.: 31

Gnomad AFR AF: 0.434

Gnomad AMI AF: 0.580

Gnomad AMR AF: 0.624

Gnomad ASJ AF: 0.706

Gnomad EAS AF: 0.671

Gnomad SAS AF: 0.664

Gnomad FIN AF: 0.682

Gnomad MID AF: 0.788

Gnomad NFE AF: 0.758

Gnomad OTH AF: 0.682

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

GnomAD4 genome AF: 0.642 AC: 97552 AN: 151940 Hom.: 32915 Cov.: 31 AF XY: 0.637 AC XY: 47337 AN XY: 74270

African (AFR) AF: 0.434 AC: 17963 AN: 41390

American (AMR) AF: 0.624 AC: 9520 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.706 AC: 2446 AN: 3464

East Asian (EAS) AF: 0.671 AC: 3466 AN: 5166

South Asian (SAS) AF: 0.664 AC: 3197 AN: 4814

European-Finnish (FIN) AF: 0.682 AC: 7200 AN: 10550

Middle Eastern (MID) AF: 0.793 AC: 233 AN: 294

European-Non Finnish (NFE) AF: 0.758 AC: 51563 AN: 67994

Other (OTH) AF: 0.684 AC: 1440 AN: 2104

Alfa AF: 0.697 Hom.: 23992

Bravo AF: 0.622

Asia WGS AF: 0.693 AC: 2407 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	7.4
DANN	Benign	0.80
PhyloP100		0.59

Splicing

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

Other links and lift over

dbSNP: rs10762201; hg19: chr10-70040111;