rs11778905

Positions:

• chr8-80598361-G-A
• chr8-80598361-G-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 0.494 in 151,826 control chromosomes in the GnomAD database, including 18,753 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 0.49 (18753 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.13

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.559 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.494 AC: 74898 AN: 151708 Hom.: 18719 Cov.: 32

Gnomad AFR AF: 0.559

Gnomad AMI AF: 0.358

Gnomad AMR AF: 0.538

Gnomad ASJ AF: 0.606

Gnomad EAS AF: 0.409

Gnomad SAS AF: 0.577

Gnomad FIN AF: 0.420

Gnomad MID AF: 0.615

Gnomad NFE AF: 0.451

Gnomad OTH AF: 0.513

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

GnomAD4 genome AF: 0.494 AC: 74984 AN: 151826 Hom.: 18753 Cov.: 32 AF XY: 0.492 AC XY: 36530 AN XY: 74176

Gnomad4 AFR AF: 0.560

Gnomad4 AMR AF: 0.539

Gnomad4 ASJ AF: 0.606

Gnomad4 EAS AF: 0.410

Gnomad4 SAS AF: 0.576

Gnomad4 FIN AF: 0.420

Gnomad4 NFE AF: 0.451

Gnomad4 OTH AF: 0.509

Alfa AF: 0.480 Hom.: 12829

Bravo AF: 0.505

Asia WGS AF: 0.445 AC: 1545 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.037
DANN	Benign	0.87

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11778905; hg19: chr8-81510596;