rs2882834

Variant names:

• chr7-10325096-C-G
• rs2882834

Your query was ambiguous. Multiple possible variants found:

• chr7-10325096-C-G
• chr7-10325096-C-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 0.305 in 151,914 control chromosomes in the GnomAD database, including 7,730 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 0.30 (7730 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.450
• Publications: 3 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 = 0.372 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: 0.305 AC: 46259 AN: 151796 Hom.: 7723 Cov.: 31

Gnomad AFR AF: 0.198

Gnomad AMI AF: 0.226

Gnomad AMR AF: 0.355

Gnomad ASJ AF: 0.330

Gnomad EAS AF: 0.0530

Gnomad SAS AF: 0.221

Gnomad FIN AF: 0.348

Gnomad MID AF: 0.329

Gnomad NFE AF: 0.376

Gnomad OTH AF: 0.319

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

GnomAD4 genome AF: 0.305 AC: 46290 AN: 151914 Hom.: 7730 Cov.: 31 AF XY: 0.297 AC XY: 22046 AN XY: 74246

African (AFR) AF: 0.198 AC: 8200 AN: 41450

American (AMR) AF: 0.355 AC: 5403 AN: 15218

Ashkenazi Jewish (ASJ) AF: 0.330 AC: 1145 AN: 3466

East Asian (EAS) AF: 0.0531 AC: 274 AN: 5160

South Asian (SAS) AF: 0.221 AC: 1066 AN: 4826

European-Finnish (FIN) AF: 0.348 AC: 3668 AN: 10554

Middle Eastern (MID) AF: 0.323 AC: 95 AN: 294

European-Non Finnish (NFE) AF: 0.376 AC: 25563 AN: 67944

Other (OTH) AF: 0.320 AC: 671 AN: 2096

Alfa AF: 0.212 Hom.: 526

Bravo AF: 0.300

Asia WGS AF: 0.204 AC: 712 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	1.0
DANN	Benign	0.66
PhyloP100		-0.45

Splicing

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

Other links and lift over

dbSNP: rs2882834; hg19: chr7-10364723;