rs4921585

Variant names:

• chr8-18233891-T-C
• rs4921585

Your query was ambiguous. Multiple possible variants found:

• chr8-18233891-T-C
• chr8-18233891-T-G

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 0.553 in 151,996 control chromosomes in the GnomAD database, including 23,336 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 0.55 (23336 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.928

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.571 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: 0.553 AC: 84025 AN: 151878 Hom.: 23294 Cov.: 32

Gnomad AFR AF: 0.577

Gnomad AMI AF: 0.426

Gnomad AMR AF: 0.525

Gnomad ASJ AF: 0.588

Gnomad EAS AF: 0.496

Gnomad SAS AF: 0.527

Gnomad FIN AF: 0.493

Gnomad MID AF: 0.598

Gnomad NFE AF: 0.561

Gnomad OTH AF: 0.541

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

GnomAD4 genome AF: 0.553 AC: 84124 AN: 151996 Hom.: 23336 Cov.: 32 AF XY: 0.549 AC XY: 40766 AN XY: 74306

Gnomad4 AFR AF: 0.578

Gnomad4 AMR AF: 0.525

Gnomad4 ASJ AF: 0.588

Gnomad4 EAS AF: 0.496

Gnomad4 SAS AF: 0.529

Gnomad4 FIN AF: 0.493

Gnomad4 NFE AF: 0.561

Gnomad4 OTH AF: 0.544

Alfa AF: 0.556 Hom.: 2895

Bravo AF: 0.555

Asia WGS AF: 0.496 AC: 1725 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.95
DANN	Benign	0.77

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4921585; hg19: chr8-18091400;