rs538181

Variant names:

• chr8-27619298-G-A
• rs538181

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 0.632 in 152,082 control chromosomes in the GnomAD database, including 31,661 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 0.63 (31661 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.88

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 (AFR) allele frequency at 95% confidence interval = 0.835 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: 0.631 AC: 95932 AN: 151964 Hom.: 31608 Cov.: 32

Gnomad AFR AF: 0.842

Gnomad AMI AF: 0.592

Gnomad AMR AF: 0.587

Gnomad ASJ AF: 0.522

Gnomad EAS AF: 0.482

Gnomad SAS AF: 0.491

Gnomad FIN AF: 0.561

Gnomad MID AF: 0.544

Gnomad NFE AF: 0.553

Gnomad OTH AF: 0.599

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

GnomAD4 genome AF: 0.632 AC: 96043 AN: 152082 Hom.: 31661 Cov.: 32 AF XY: 0.629 AC XY: 46734 AN XY: 74346

Gnomad4 AFR AF: 0.842

Gnomad4 AMR AF: 0.587

Gnomad4 ASJ AF: 0.522

Gnomad4 EAS AF: 0.482

Gnomad4 SAS AF: 0.491

Gnomad4 FIN AF: 0.561

Gnomad4 NFE AF: 0.553

Gnomad4 OTH AF: 0.599

Alfa AF: 0.561 Hom.: 41613

Bravo AF: 0.643

Asia WGS AF: 0.476 AC: 1656 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	0.24
DANN	Benign	0.64

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs538181; hg19: chr8-27476815;