rs931623

Variant names:

• chr8-20241220-A-G
• rs931623

Your query was ambiguous. Multiple possible variants found:

• chr8-20241220-A-G
• chr8-20241220-A-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 0.498 in 151,750 control chromosomes in the GnomAD database, including 19,195 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 0.50 (19195 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.642

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.616 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: 0.498 AC: 75549 AN: 151632 Hom.: 19168 Cov.: 32

Gnomad AFR AF: 0.434

Gnomad AMI AF: 0.499

Gnomad AMR AF: 0.626

Gnomad ASJ AF: 0.588

Gnomad EAS AF: 0.491

Gnomad SAS AF: 0.571

Gnomad FIN AF: 0.466

Gnomad MID AF: 0.580

Gnomad NFE AF: 0.504

Gnomad OTH AF: 0.506

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

GnomAD4 genome AF: 0.498 AC: 75631 AN: 151750 Hom.: 19195 Cov.: 32 AF XY: 0.501 AC XY: 37167 AN XY: 74144

Gnomad4 AFR AF: 0.434

Gnomad4 AMR AF: 0.627

Gnomad4 ASJ AF: 0.588

Gnomad4 EAS AF: 0.492

Gnomad4 SAS AF: 0.573

Gnomad4 FIN AF: 0.466

Gnomad4 NFE AF: 0.504

Gnomad4 OTH AF: 0.509

Alfa AF: 0.446 Hom.: 3438

Bravo AF: 0.506

Asia WGS AF: 0.543 AC: 1890 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	2.2
DANN	Benign	0.56

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs931623; hg19: chr8-20098731;