rs8134605

Positions:

• chr21-30931947-G-C
• chr21-30931947-G-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 0.104 in 152,040 control chromosomes in the GnomAD database, including 2,158 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 (2158 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.932

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.04).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.31 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.104 AC: 15837 AN: 151922 Hom.: 2152 Cov.: 32

Gnomad AFR AF: 0.315

Gnomad AMI AF: 0.0110

Gnomad AMR AF: 0.0416

Gnomad ASJ AF: 0.0516

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.0781

Gnomad FIN AF: 0.0178

Gnomad MID AF: 0.0506

Gnomad NFE AF: 0.0188

Gnomad OTH AF: 0.0722

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

GnomAD4 genome AF: 0.104 AC: 15870 AN: 152040 Hom.: 2158 Cov.: 32 AF XY: 0.102 AC XY: 7571 AN XY: 74326

Gnomad4 AFR AF: 0.315

Gnomad4 AMR AF: 0.0414

Gnomad4 ASJ AF: 0.0516

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.0771

Gnomad4 FIN AF: 0.0178

Gnomad4 NFE AF: 0.0189

Gnomad4 OTH AF: 0.0715

Alfa AF: 0.0155 Hom.: 16

Bravo AF: 0.115

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.70
DANN	Benign	0.23

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8134605; hg19: chr21-32304266;