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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.139

Gnomad4 AMR AF: 0.445

Gnomad4 ASJ AF: 0.144

Gnomad4 EAS AF: 0.723

Gnomad4 SAS AF: 0.354

Gnomad4 FIN AF: 0.273

Gnomad4 NFE AF: 0.255

Gnomad4 OTH AF: 0.265

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2061831; hg19: chr8-11339882;