rs10504699

Variant names:

• chr8-79202924-A-G
• rs10504699

Your query was ambiguous. Multiple possible variants found:

• chr8-79202924-A-G
• chr8-79202924-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 0.0509 in 152,232 control chromosomes in the GnomAD database, including 250 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 0.051 (250 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.81
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.0882 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: 0.0508 AC: 7734 AN: 152114 Hom.: 251 Cov.: 32

Gnomad AFR AF: 0.0518

Gnomad AMI AF: 0.137

Gnomad AMR AF: 0.0920

Gnomad ASJ AF: 0.0689

Gnomad EAS AF: 0.0890

Gnomad SAS AF: 0.0225

Gnomad FIN AF: 0.0884

Gnomad MID AF: 0.0475

Gnomad NFE AF: 0.0323

Gnomad OTH AF: 0.0468

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

GnomAD4 genome AF: 0.0509 AC: 7743 AN: 152232 Hom.: 250 Cov.: 32 AF XY: 0.0533 AC XY: 3969 AN XY: 74440

African (AFR) AF: 0.0518 AC: 2153 AN: 41550

American (AMR) AF: 0.0923 AC: 1410 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.0689 AC: 239 AN: 3468

East Asian (EAS) AF: 0.0886 AC: 459 AN: 5178

South Asian (SAS) AF: 0.0224 AC: 108 AN: 4830

European-Finnish (FIN) AF: 0.0884 AC: 936 AN: 10584

Middle Eastern (MID) AF: 0.0510 AC: 15 AN: 294

European-Non Finnish (NFE) AF: 0.0323 AC: 2199 AN: 68018

Other (OTH) AF: 0.0468 AC: 99 AN: 2114

Alfa AF: 0.0395 Hom.: 138

Bravo AF: 0.0527

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	6.2
DANN	Benign	0.75
PhyloP100		1.8

Splicing

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

Other links and lift over

dbSNP: rs10504699; hg19: chr8-80115159;