chr8-11485477-C-G

Variant names:

• chr8-11485477-C-G
• rs2254660

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 0.828 in 152,166 control chromosomes in the GnomAD database, including 52,350 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 0.83 (52350 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0890

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 = 0.852 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: 0.828 AC: 125888 AN: 152048 Hom.: 52299 Cov.: 31

Gnomad AFR AF: 0.860

Gnomad AMI AF: 0.676

Gnomad AMR AF: 0.846

Gnomad ASJ AF: 0.830

Gnomad EAS AF: 0.739

Gnomad SAS AF: 0.791

Gnomad FIN AF: 0.692

Gnomad MID AF: 0.854

Gnomad NFE AF: 0.837

Gnomad OTH AF: 0.820

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

GnomAD4 genome AF: 0.828 AC: 125996 AN: 152166 Hom.: 52350 Cov.: 31 AF XY: 0.820 AC XY: 61008 AN XY: 74372

Gnomad4 AFR AF: 0.860

Gnomad4 AMR AF: 0.846

Gnomad4 ASJ AF: 0.830

Gnomad4 EAS AF: 0.739

Gnomad4 SAS AF: 0.791

Gnomad4 FIN AF: 0.692

Gnomad4 NFE AF: 0.837

Gnomad4 OTH AF: 0.822

Alfa AF: 0.812 Hom.: 2518

Bravo AF: 0.850

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	2.7
DANN	Benign	0.17

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2254660; hg19: chr8-11342986;