rs10505250

chr8-115267445-T-A

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.0452 in 151,724 control chromosomes in the GnomAD database, including 321 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 0.045 (321 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.449

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.0996 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.0452 AC: 6848 AN: 151606 Hom.: 321 Cov.: 32

Gnomad AFR AF: 0.0995

Gnomad AMI AF: 0.0538

Gnomad AMR AF: 0.0457

Gnomad ASJ AF: 0.0458

Gnomad EAS AF: 0.0975

Gnomad SAS AF: 0.108

Gnomad FIN AF: 0.00406

Gnomad MID AF: 0.0601

Gnomad NFE AF: 0.0101

Gnomad OTH AF: 0.0381

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

GnomAD4 genome AF: 0.0452 AC: 6859 AN: 151724 Hom.: 321 Cov.: 32 AF XY: 0.0459 AC XY: 3404 AN XY: 74154

Gnomad4 AFR AF: 0.0994

Gnomad4 AMR AF: 0.0458

Gnomad4 ASJ AF: 0.0458

Gnomad4 EAS AF: 0.0976

Gnomad4 SAS AF: 0.107

Gnomad4 FIN AF: 0.00406

Gnomad4 NFE AF: 0.0101

Gnomad4 OTH AF: 0.0391

Alfa AF: 0.0298 Hom.: 17

Bravo AF: 0.0504

Asia WGS AF: 0.107 AC: 372 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
Cadd	Benign	6.3
Dann	Benign	0.74

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10505250; hg19: chr8-116279674;