rs765547

Variant names:

• chr8-20008763-G-A
• rs765547

Your query was ambiguous. Multiple possible variants found:

• chr8-20008763-G-A
• chr8-20008763-G-C
• chr8-20008763-G-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 0.229 in 152,068 control chromosomes in the GnomAD database, including 4,221 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 0.23 (4221 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.539
• Publications: 18 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.266 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: 0.230 AC: 34898 AN: 151950 Hom.: 4223 Cov.: 32

Gnomad AFR AF: 0.148

Gnomad AMI AF: 0.391

Gnomad AMR AF: 0.232

Gnomad ASJ AF: 0.339

Gnomad EAS AF: 0.206

Gnomad SAS AF: 0.230

Gnomad FIN AF: 0.248

Gnomad MID AF: 0.288

Gnomad NFE AF: 0.270

Gnomad OTH AF: 0.236

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

GnomAD4 genome AF: 0.229 AC: 34890 AN: 152068 Hom.: 4221 Cov.: 32 AF XY: 0.229 AC XY: 16999 AN XY: 74314

African (AFR) AF: 0.148 AC: 6120 AN: 41480

American (AMR) AF: 0.232 AC: 3539 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.339 AC: 1175 AN: 3470

East Asian (EAS) AF: 0.205 AC: 1061 AN: 5168

South Asian (SAS) AF: 0.230 AC: 1109 AN: 4814

European-Finnish (FIN) AF: 0.248 AC: 2617 AN: 10546

Middle Eastern (MID) AF: 0.276 AC: 81 AN: 294

European-Non Finnish (NFE) AF: 0.270 AC: 18331 AN: 67996

Other (OTH) AF: 0.237 AC: 501 AN: 2114

Alfa AF: 0.163 Hom.: 463

Bravo AF: 0.223

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.9
DANN	Benign	0.48
PhyloP100		-0.54

Splicing

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

Other links and lift over

dbSNP: rs765547; hg19: chr8-19866274;