rs77265424

Variant names:

• chr8-5369580-A-G
• rs77265424

Your query was ambiguous. Multiple possible variants found:

• chr8-5369580-A-G
• chr8-5369580-A-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 0.0518 in 152,312 control chromosomes in the GnomAD database, including 303 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 0.052 (303 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.174
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.078 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: 0.0518 AC: 7888 AN: 152194 Hom.: 304 Cov.: 33

Gnomad AFR AF: 0.0147

Gnomad AMI AF: 0.128

Gnomad AMR AF: 0.0456

Gnomad ASJ AF: 0.0576

Gnomad EAS AF: 0.000193

Gnomad SAS AF: 0.0218

Gnomad FIN AF: 0.0553

Gnomad MID AF: 0.0796

Gnomad NFE AF: 0.0797

Gnomad OTH AF: 0.0583

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

GnomAD4 genome AF: 0.0518 AC: 7887 AN: 152312 Hom.: 303 Cov.: 33 AF XY: 0.0492 AC XY: 3665 AN XY: 74472

African (AFR) AF: 0.0146 AC: 608 AN: 41578

American (AMR) AF: 0.0456 AC: 697 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.0576 AC: 200 AN: 3472

East Asian (EAS) AF: 0.000193 AC: 1 AN: 5176

South Asian (SAS) AF: 0.0218 AC: 105 AN: 4820

European-Finnish (FIN) AF: 0.0553 AC: 587 AN: 10620

Middle Eastern (MID) AF: 0.0788 AC: 23 AN: 292

European-Non Finnish (NFE) AF: 0.0798 AC: 5427 AN: 68030

Other (OTH) AF: 0.0577 AC: 122 AN: 2114

Alfa AF: 0.0484 Hom.: 151

Bravo AF: 0.0499

Asia WGS AF: 0.0110 AC: 38 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	2.7
DANN	Benign	0.39
PhyloP100		-0.17

Splicing

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

Other links and lift over

dbSNP: rs77265424; hg19: chr8-5227102;