rs11777345

Variant names:

• chr8-5569009-C-G
• rs11777345

Your query was ambiguous. Multiple possible variants found:

• chr8-5569009-C-G
• chr8-5569009-C-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.102 in 151,518 control chromosomes in the GnomAD database, including 825 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 0.10 (825 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.962
• Publications: 7 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.103 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: 0.102 AC: 15478 AN: 151400 Hom.: 813 Cov.: 32

Gnomad AFR AF: 0.0903

Gnomad AMI AF: 0.154

Gnomad AMR AF: 0.0870

Gnomad ASJ AF: 0.0954

Gnomad EAS AF: 0.111

Gnomad SAS AF: 0.103

Gnomad FIN AF: 0.143

Gnomad MID AF: 0.168

Gnomad NFE AF: 0.105

Gnomad OTH AF: 0.106

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

GnomAD4 genome AF: 0.102 AC: 15505 AN: 151518 Hom.: 825 Cov.: 32 AF XY: 0.105 AC XY: 7805 AN XY: 74022

African (AFR) AF: 0.0902 AC: 3719 AN: 41226

American (AMR) AF: 0.0869 AC: 1323 AN: 15228

Ashkenazi Jewish (ASJ) AF: 0.0954 AC: 331 AN: 3470

East Asian (EAS) AF: 0.110 AC: 566 AN: 5136

South Asian (SAS) AF: 0.104 AC: 499 AN: 4810

European-Finnish (FIN) AF: 0.143 AC: 1495 AN: 10432

Middle Eastern (MID) AF: 0.170 AC: 50 AN: 294

European-Non Finnish (NFE) AF: 0.105 AC: 7137 AN: 67904

Other (OTH) AF: 0.116 AC: 245 AN: 2106

Alfa AF: 0.103 Hom.: 114

Bravo AF: 0.0983

Asia WGS AF: 0.158 AC: 551 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.26
DANN	Benign	0.44
PhyloP100		-0.96

Splicing

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

Other links and lift over

dbSNP: rs11777345; hg19: chr8-5426531;