rs10503964

Variant names:

• chr8-34503899-G-A
• rs10503964

Your query was ambiguous. Multiple possible variants found:

• chr8-34503899-G-A
• chr8-34503899-G-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 0.0382 in 152,132 control chromosomes in the GnomAD database, including 246 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 0.038 (246 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.258
• Publications: 1 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 (EAS) allele frequency at 95% confidence interval = 0.195 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: 0.0382 AC: 5814 AN: 152014 Hom.: 246 Cov.: 32

Gnomad AFR AF: 0.0102

Gnomad AMI AF: 0.0154

Gnomad AMR AF: 0.0439

Gnomad ASJ AF: 0.0597

Gnomad EAS AF: 0.205

Gnomad SAS AF: 0.127

Gnomad FIN AF: 0.0322

Gnomad MID AF: 0.0443

Gnomad NFE AF: 0.0351

Gnomad OTH AF: 0.0422

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

GnomAD4 genome AF: 0.0382 AC: 5816 AN: 152132 Hom.: 246 Cov.: 32 AF XY: 0.0403 AC XY: 2999 AN XY: 74346

African (AFR) AF: 0.0103 AC: 426 AN: 41532

American (AMR) AF: 0.0438 AC: 669 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.0597 AC: 207 AN: 3470

East Asian (EAS) AF: 0.205 AC: 1058 AN: 5156

South Asian (SAS) AF: 0.127 AC: 610 AN: 4806

European-Finnish (FIN) AF: 0.0322 AC: 341 AN: 10592

Middle Eastern (MID) AF: 0.0476 AC: 14 AN: 294

European-Non Finnish (NFE) AF: 0.0351 AC: 2388 AN: 67996

Other (OTH) AF: 0.0423 AC: 89 AN: 2106

Alfa AF: 0.0371 Hom.: 19

Bravo AF: 0.0378

Asia WGS AF: 0.157 AC: 544 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.96
DANN	Benign	0.70
PhyloP100		-0.26

Splicing

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

Other links and lift over

dbSNP: rs10503964; hg19: chr8-34361417; COSMIC: COSV64920000;