rs10957333

Variant names:

• chr8-65029214-A-G
• rs10957333

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 0.159 in 151,988 control chromosomes in the GnomAD database, including 2,085 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 0.16 (2085 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00700
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.19 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: 0.159 AC: 24185 AN: 151870 Hom.: 2086 Cov.: 32

Gnomad AFR AF: 0.0977

Gnomad AMI AF: 0.127

Gnomad AMR AF: 0.156

Gnomad ASJ AF: 0.156

Gnomad EAS AF: 0.113

Gnomad SAS AF: 0.0852

Gnomad FIN AF: 0.246

Gnomad MID AF: 0.178

Gnomad NFE AF: 0.193

Gnomad OTH AF: 0.177

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

GnomAD4 genome AF: 0.159 AC: 24188 AN: 151988 Hom.: 2085 Cov.: 32 AF XY: 0.160 AC XY: 11890 AN XY: 74304

African (AFR) AF: 0.0975 AC: 4048 AN: 41534

American (AMR) AF: 0.157 AC: 2389 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.156 AC: 541 AN: 3470

East Asian (EAS) AF: 0.113 AC: 587 AN: 5172

South Asian (SAS) AF: 0.0854 AC: 412 AN: 4822

European-Finnish (FIN) AF: 0.246 AC: 2579 AN: 10498

Middle Eastern (MID) AF: 0.175 AC: 51 AN: 292

European-Non Finnish (NFE) AF: 0.193 AC: 13094 AN: 67918

Other (OTH) AF: 0.176 AC: 371 AN: 2110

Alfa AF: 0.182 Hom.: 2319

Bravo AF: 0.151

Asia WGS AF: 0.0790 AC: 272 AN: 3464

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.9
DANN	Benign	0.57
PhyloP100		-0.0070

Splicing

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

Other links and lift over

dbSNP: rs10957333; hg19: chr8-65941449;