rs8077444

Variant names:

• chr17-49201163-G-A
• rs8077444

Your query was ambiguous. Multiple possible variants found:

• chr17-49201163-G-A
• chr17-49201163-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 0.217 in 152,142 control chromosomes in the GnomAD database, including 4,016 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 0.22 (4016 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.101

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.439 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: 0.217 AC: 33019 AN: 152024 Hom.: 4003 Cov.: 32

Gnomad AFR AF: 0.247

Gnomad AMI AF: 0.196

Gnomad AMR AF: 0.281

Gnomad ASJ AF: 0.219

Gnomad EAS AF: 0.454

Gnomad SAS AF: 0.201

Gnomad FIN AF: 0.112

Gnomad MID AF: 0.266

Gnomad NFE AF: 0.185

Gnomad OTH AF: 0.218

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

GnomAD4 genome AF: 0.217 AC: 33066 AN: 152142 Hom.: 4016 Cov.: 32 AF XY: 0.219 AC XY: 16284 AN XY: 74368

Gnomad4 AFR AF: 0.246

Gnomad4 AMR AF: 0.281

Gnomad4 ASJ AF: 0.219

Gnomad4 EAS AF: 0.454

Gnomad4 SAS AF: 0.203

Gnomad4 FIN AF: 0.112

Gnomad4 NFE AF: 0.185

Gnomad4 OTH AF: 0.222

Alfa AF: 0.187 Hom.: 2704

Bravo AF: 0.234

Asia WGS AF: 0.304 AC: 1056 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	4.2
DANN	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8077444; hg19: chr17-47278525;