rs11778913

chr8-8957380-G-Achr8-8957380-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 0.753 in 152,100 control chromosomes in the GnomAD database, including 43,305 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 0.75 (43305 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.595

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 (AMR) allele frequency at 95% confidence interval = 0.804 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: 0.753 AC: 114437 AN: 151982 Hom.: 43262 Cov.: 31

Gnomad AFR AF: 0.749

Gnomad AMI AF: 0.837

Gnomad AMR AF: 0.816

Gnomad ASJ AF: 0.614

Gnomad EAS AF: 0.751

Gnomad SAS AF: 0.662

Gnomad FIN AF: 0.779

Gnomad MID AF: 0.674

Gnomad NFE AF: 0.751

Gnomad OTH AF: 0.736

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

GnomAD4 genome AF: 0.753 AC: 114538 AN: 152100 Hom.: 43305 Cov.: 31 AF XY: 0.756 AC XY: 56191 AN XY: 74350

Gnomad4 AFR AF: 0.749

Gnomad4 AMR AF: 0.816

Gnomad4 ASJ AF: 0.614

Gnomad4 EAS AF: 0.751

Gnomad4 SAS AF: 0.662

Gnomad4 FIN AF: 0.779

Gnomad4 NFE AF: 0.751

Gnomad4 OTH AF: 0.734

Alfa AF: 0.741 Hom.: 84532

Bravo AF: 0.757

Asia WGS AF: 0.681 AC: 2366 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	6.9
Dann	Benign	0.65

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11778913; hg19: chr8-8814890;