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. The variant received -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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.0660 AC: 1197 AN: 18128

American (AMR) AF: 0.180 AC: 1103 AN: 6118

Ashkenazi Jewish (ASJ) AF: 0.268 AC: 685 AN: 2554

East Asian (EAS) AF: 0.159 AC: 357 AN: 2240

South Asian (SAS) AF: 0.195 AC: 384 AN: 1974

European-Finnish (FIN) AF: 0.206 AC: 319 AN: 1548

Middle Eastern (MID) AF: 0.269 AC: 29 AN: 108

European-Non Finnish (NFE) AF: 0.223 AC: 10416 AN: 46682

Other (OTH) AF: 0.212 AC: 217 AN: 1026

Alfa AF: 0.221 Hom.: 150

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.9
DANN	Benign	0.21
PhyloP100		0.0

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs796355;

hg19: chr3-192650266;