rs2061831

Variant names:

• chr8-11482373-T-C
• rs2061831

Your query was ambiguous. Multiple possible variants found:

• chr8-11482373-T-C
• chr8-11482373-T-G

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 0.26 in 152,142 control chromosomes in the GnomAD database, including 6,535 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 0.26 (6535 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.667
• Publications: 19 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.704 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: 0.260 AC: 39513 AN: 152024 Hom.: 6517 Cov.: 33

Gnomad AFR AF: 0.139

Gnomad AMI AF: 0.193

Gnomad AMR AF: 0.444

Gnomad ASJ AF: 0.144

Gnomad EAS AF: 0.723

Gnomad SAS AF: 0.355

Gnomad FIN AF: 0.273

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.255

Gnomad OTH AF: 0.255

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

GnomAD4 genome AF: 0.260 AC: 39546 AN: 152142 Hom.: 6535 Cov.: 33 AF XY: 0.268 AC XY: 19907 AN XY: 74386

African (AFR) AF: 0.139 AC: 5750 AN: 41510

American (AMR) AF: 0.445 AC: 6797 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.144 AC: 501 AN: 3470

East Asian (EAS) AF: 0.723 AC: 3736 AN: 5166

South Asian (SAS) AF: 0.354 AC: 1710 AN: 4830

European-Finnish (FIN) AF: 0.273 AC: 2895 AN: 10594

Middle Eastern (MID) AF: 0.190 AC: 56 AN: 294

European-Non Finnish (NFE) AF: 0.255 AC: 17366 AN: 67980

Other (OTH) AF: 0.265 AC: 559 AN: 2110

Alfa AF: 0.241 Hom.: 594

Bravo AF: 0.274

Asia WGS AF: 0.541 AC: 1880 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.67
DANN	Benign	0.83
PhyloP100		-0.67

Splicing

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

Other links and lift over

dbSNP: rs2061831; hg19: chr8-11339882;