rs796355

Variant names:

• chr3-192932477-G-A
• rs796355

Your query was ambiguous. Multiple possible variants found:

• chr3-192932477-G-A
• chr3-192932477-G-C
• chr3-192932477-G-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

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 0.18 (1325 hom., cov: 10)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.22 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: 0.184 AC: 14911 AN: 81062 Hom.: 1325 Cov.: 10

Gnomad AFR AF: 0.0660

Gnomad AMI AF: 0.288

Gnomad AMR AF: 0.180

Gnomad ASJ AF: 0.268

Gnomad EAS AF: 0.160

Gnomad SAS AF: 0.196

Gnomad FIN AF: 0.206

Gnomad MID AF: 0.271

Gnomad NFE AF: 0.223

Gnomad OTH AF: 0.212

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

GnomAD4 genome AF: 0.184 AC: 14901 AN: 81052 Hom.: 1325 Cov.: 10 AF XY: 0.178 AC XY: 6407 AN XY: 35966

Gnomad4 AFR AF: 0.0660

Gnomad4 AMR AF: 0.180

Gnomad4 ASJ AF: 0.268

Gnomad4 EAS AF: 0.159

Gnomad4 SAS AF: 0.195

Gnomad4 FIN AF: 0.206

Gnomad4 NFE AF: 0.223

Gnomad4 OTH AF: 0.212

Alfa AF: 0.221 Hom.: 150

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.9
DANN	Benign	0.21

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs796355; hg19: chr3-192650266;