rs10795733

Variant names:

• chr10-6001515-C-A
• rs10795733

Your query was ambiguous. Multiple possible variants found:

• chr10-6001515-C-A
• chr10-6001515-C-G
• chr10-6001515-C-T

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 0.417 in 151,792 control chromosomes in the GnomAD database, including 14,131 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 0.42 (14131 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.50

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.501 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: 0.417 AC: 63295 AN: 151674 Hom.: 14124 Cov.: 30

Gnomad AFR AF: 0.280

Gnomad AMI AF: 0.719

Gnomad AMR AF: 0.388

Gnomad ASJ AF: 0.478

Gnomad EAS AF: 0.390

Gnomad SAS AF: 0.421

Gnomad FIN AF: 0.393

Gnomad MID AF: 0.386

Gnomad NFE AF: 0.506

Gnomad OTH AF: 0.420

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

GnomAD4 genome AF: 0.417 AC: 63340 AN: 151792 Hom.: 14131 Cov.: 30 AF XY: 0.410 AC XY: 30428 AN XY: 74162

Gnomad4 AFR AF: 0.281

Gnomad4 AMR AF: 0.387

Gnomad4 ASJ AF: 0.478

Gnomad4 EAS AF: 0.389

Gnomad4 SAS AF: 0.419

Gnomad4 FIN AF: 0.393

Gnomad4 NFE AF: 0.506

Gnomad4 OTH AF: 0.423

Alfa AF: 0.464 Hom.: 12021

Bravo AF: 0.409

Asia WGS AF: 0.447 AC: 1553 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.41
DANN	Benign	0.49

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10795733; hg19: chr10-6043478;