rs1871352

Variant names:

• chr3-36313045-A-C
• rs1871352

Your query was ambiguous. Multiple possible variants found:

• chr3-36313045-A-C
• chr3-36313045-A-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 0.859 in 152,132 control chromosomes in the GnomAD database, including 56,154 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 0.86 (56154 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.253
• 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 (EAS) allele frequency at 95% confidence interval = 0.967 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: 0.859 AC: 130517 AN: 152016 Hom.: 56110 Cov.: 32

Gnomad AFR AF: 0.866

Gnomad AMI AF: 0.936

Gnomad AMR AF: 0.840

Gnomad ASJ AF: 0.871

Gnomad EAS AF: 0.989

Gnomad SAS AF: 0.873

Gnomad FIN AF: 0.895

Gnomad MID AF: 0.835

Gnomad NFE AF: 0.840

Gnomad OTH AF: 0.839

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

GnomAD4 genome AF: 0.859 AC: 130620 AN: 152132 Hom.: 56154 Cov.: 32 AF XY: 0.863 AC XY: 64158 AN XY: 74376

African (AFR) AF: 0.866 AC: 35942 AN: 41492

American (AMR) AF: 0.840 AC: 12825 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.871 AC: 3019 AN: 3468

East Asian (EAS) AF: 0.989 AC: 5126 AN: 5182

South Asian (SAS) AF: 0.873 AC: 4207 AN: 4818

European-Finnish (FIN) AF: 0.895 AC: 9483 AN: 10596

Middle Eastern (MID) AF: 0.850 AC: 250 AN: 294

European-Non Finnish (NFE) AF: 0.840 AC: 57144 AN: 67998

Other (OTH) AF: 0.840 AC: 1772 AN: 2110

Alfa AF: 0.840 Hom.: 23570

Bravo AF: 0.855

Asia WGS AF: 0.925 AC: 3216 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	2.4
DANN	Benign	0.58
PhyloP100		-0.25

Splicing

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

Other links and lift over

dbSNP: rs1871352; hg19: chr3-36354537;