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. The variant received -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
• Publications: 9 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.281 AC: 11608 AN: 41344

American (AMR) AF: 0.387 AC: 5907 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.478 AC: 1659 AN: 3472

East Asian (EAS) AF: 0.389 AC: 2012 AN: 5178

South Asian (SAS) AF: 0.419 AC: 2011 AN: 4800

European-Finnish (FIN) AF: 0.393 AC: 4135 AN: 10510

Middle Eastern (MID) AF: 0.388 AC: 114 AN: 294

European-Non Finnish (NFE) AF: 0.506 AC: 34349 AN: 67932

Other (OTH) AF: 0.423 AC: 889 AN: 2104

Alfa AF: 0.466 Hom.: 14189

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
PhyloP100		-2.5

Splicing

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

Other links and lift over

dbSNP: rs10795733; hg19: chr10-6043478;