rs10103634

Positions:

• chr8-20033101-G-A
• chr8-20033101-G-T

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 0.372 in 151,894 control chromosomes in the GnomAD database, including 11,313 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 0.37 (11313 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0110

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.511 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: 0.372 AC: 56504 AN: 151776 Hom.: 11294 Cov.: 31

Gnomad AFR AF: 0.517

Gnomad AMI AF: 0.442

Gnomad AMR AF: 0.299

Gnomad ASJ AF: 0.279

Gnomad EAS AF: 0.251

Gnomad SAS AF: 0.273

Gnomad FIN AF: 0.363

Gnomad MID AF: 0.303

Gnomad NFE AF: 0.324

Gnomad OTH AF: 0.341

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

GnomAD4 genome AF: 0.372 AC: 56567 AN: 151894 Hom.: 11313 Cov.: 31 AF XY: 0.369 AC XY: 27402 AN XY: 74238

Gnomad4 AFR AF: 0.517

Gnomad4 AMR AF: 0.299

Gnomad4 ASJ AF: 0.279

Gnomad4 EAS AF: 0.251

Gnomad4 SAS AF: 0.274

Gnomad4 FIN AF: 0.363

Gnomad4 NFE AF: 0.324

Gnomad4 OTH AF: 0.337

Alfa AF: 0.328 Hom.: 17030

Bravo AF: 0.372

Asia WGS AF: 0.262 AC: 911 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	2.2
DANN	Benign	0.79

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10103634; hg19: chr8-19890612;