rs4761097

Variant names:

• chr12-84793732-G-A
• rs4761097

Your query was ambiguous. Multiple possible variants found:

• chr12-84793732-G-A
• chr12-84793732-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 0.564 in 151,880 control chromosomes in the GnomAD database, including 24,523 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 0.56 (24523 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.00
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.736 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: 0.564 AC: 85641 AN: 151762 Hom.: 24497 Cov.: 32

Gnomad AFR AF: 0.551

Gnomad AMI AF: 0.667

Gnomad AMR AF: 0.656

Gnomad ASJ AF: 0.610

Gnomad EAS AF: 0.756

Gnomad SAS AF: 0.486

Gnomad FIN AF: 0.478

Gnomad MID AF: 0.608

Gnomad NFE AF: 0.552

Gnomad OTH AF: 0.582

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

GnomAD4 genome AF: 0.564 AC: 85706 AN: 151880 Hom.: 24523 Cov.: 32 AF XY: 0.564 AC XY: 41837 AN XY: 74208

African (AFR) AF: 0.550 AC: 22787 AN: 41404

American (AMR) AF: 0.656 AC: 10021 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.610 AC: 2113 AN: 3466

East Asian (EAS) AF: 0.756 AC: 3891 AN: 5150

South Asian (SAS) AF: 0.487 AC: 2349 AN: 4824

European-Finnish (FIN) AF: 0.478 AC: 5027 AN: 10524

Middle Eastern (MID) AF: 0.605 AC: 178 AN: 294

European-Non Finnish (NFE) AF: 0.552 AC: 37502 AN: 67928

Other (OTH) AF: 0.584 AC: 1231 AN: 2108

Alfa AF: 0.561 Hom.: 21661

Bravo AF: 0.581

Asia WGS AF: 0.618 AC: 2146 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	3.1
DANN	Benign	0.62
PhyloP100		1.0

Splicing

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

Other links and lift over

dbSNP: rs4761097; hg19: chr12-85187511;