rs10103634

Variant names:

• chr8-20033101-G-A
• rs10103634

Your query was ambiguous. Multiple possible variants found:

• chr8-20033101-G-A
• chr8-20033101-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 0.372 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
• Publications: 9 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.517 AC: 21412 AN: 41402

American (AMR) AF: 0.299 AC: 4560 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.279 AC: 967 AN: 3468

East Asian (EAS) AF: 0.251 AC: 1295 AN: 5156

South Asian (SAS) AF: 0.274 AC: 1321 AN: 4814

European-Finnish (FIN) AF: 0.363 AC: 3827 AN: 10540

Middle Eastern (MID) AF: 0.298 AC: 87 AN: 292

European-Non Finnish (NFE) AF: 0.324 AC: 21984 AN: 67936

Other (OTH) AF: 0.337 AC: 711 AN: 2112

Alfa AF: 0.338 Hom.: 30360

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
PhyloP100		0.011

Splicing

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

Other links and lift over

dbSNP: rs10103634; hg19: chr8-19890612;