rs11780471

Variant names:

• chr8-27487202-G-A
• rs11780471

Your query was ambiguous. Multiple possible variants found:

• chr8-27487202-G-A
• chr8-27487202-G-C

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 0.0424 in 152,336 control chromosomes in the GnomAD database, including 203 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 0.042 (203 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.328

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0625 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: 0.0424 AC: 6453 AN: 152218 Hom.: 203 Cov.: 33

Gnomad AFR AF: 0.0105

Gnomad AMI AF: 0.0274

Gnomad AMR AF: 0.0400

Gnomad ASJ AF: 0.0550

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.0116

Gnomad FIN AF: 0.0634

Gnomad MID AF: 0.0411

Gnomad NFE AF: 0.0640

Gnomad OTH AF: 0.0425

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

GnomAD4 genome AF: 0.0424 AC: 6452 AN: 152336 Hom.: 203 Cov.: 33 AF XY: 0.0416 AC XY: 3098 AN XY: 74494

Gnomad4 AFR AF: 0.0105

Gnomad4 AMR AF: 0.0400

Gnomad4 ASJ AF: 0.0550

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.0116

Gnomad4 FIN AF: 0.0634

Gnomad4 NFE AF: 0.0640

Gnomad4 OTH AF: 0.0421

Alfa AF: 0.0590 Hom.: 416

Bravo AF: 0.0401

Asia WGS AF: 0.00664 AC: 23 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.2
DANN	Benign	0.71

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11780471; hg19: chr8-27344719;