rs10505248

Variant names:

• chr8-115144623-A-G
• rs10505248

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 0.102 in 152,034 control chromosomes in the GnomAD database, including 1,572 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 0.10 (1572 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0690
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.251 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: 0.102 AC: 15502 AN: 151916 Hom.: 1566 Cov.: 31

Gnomad AFR AF: 0.255

Gnomad AMI AF: 0.00329

Gnomad AMR AF: 0.0516

Gnomad ASJ AF: 0.0504

Gnomad EAS AF: 0.122

Gnomad SAS AF: 0.188

Gnomad FIN AF: 0.0652

Gnomad MID AF: 0.0506

Gnomad NFE AF: 0.0234

Gnomad OTH AF: 0.0838

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

GnomAD4 genome AF: 0.102 AC: 15544 AN: 152034 Hom.: 1572 Cov.: 31 AF XY: 0.104 AC XY: 7752 AN XY: 74306

African (AFR) AF: 0.255 AC: 10575 AN: 41414

American (AMR) AF: 0.0514 AC: 786 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.0504 AC: 175 AN: 3472

East Asian (EAS) AF: 0.122 AC: 629 AN: 5144

South Asian (SAS) AF: 0.185 AC: 894 AN: 4820

European-Finnish (FIN) AF: 0.0652 AC: 690 AN: 10584

Middle Eastern (MID) AF: 0.0578 AC: 17 AN: 294

European-Non Finnish (NFE) AF: 0.0234 AC: 1592 AN: 68006

Other (OTH) AF: 0.0867 AC: 183 AN: 2110

Alfa AF: 0.0610 Hom.: 1322

Bravo AF: 0.104

Asia WGS AF: 0.170 AC: 590 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.92
DANN	Benign	0.54
PhyloP100		0.069

Splicing

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

Other links and lift over

dbSNP: rs10505248; hg19: chr8-116156852;