rs7894531

Variant names:

• chr10-8692798-G-A
• rs7894531

Your query was ambiguous. Multiple possible variants found:

• chr10-8692798-G-A
• chr10-8692798-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 0.27 in 152,004 control chromosomes in the GnomAD database, including 6,025 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 0.27 (6025 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.44
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.343 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: 0.270 AC: 41063 AN: 151886 Hom.: 6007 Cov.: 32

Gnomad AFR AF: 0.147

Gnomad AMI AF: 0.370

Gnomad AMR AF: 0.317

Gnomad ASJ AF: 0.297

Gnomad EAS AF: 0.356

Gnomad SAS AF: 0.280

Gnomad FIN AF: 0.318

Gnomad MID AF: 0.309

Gnomad NFE AF: 0.317

Gnomad OTH AF: 0.287

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

GnomAD4 genome AF: 0.270 AC: 41099 AN: 152004 Hom.: 6025 Cov.: 32 AF XY: 0.272 AC XY: 20228 AN XY: 74272

African (AFR) AF: 0.147 AC: 6096 AN: 41478

American (AMR) AF: 0.317 AC: 4846 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.297 AC: 1030 AN: 3470

East Asian (EAS) AF: 0.357 AC: 1841 AN: 5164

South Asian (SAS) AF: 0.281 AC: 1346 AN: 4798

European-Finnish (FIN) AF: 0.318 AC: 3349 AN: 10544

Middle Eastern (MID) AF: 0.308 AC: 90 AN: 292

European-Non Finnish (NFE) AF: 0.317 AC: 21547 AN: 67964

Other (OTH) AF: 0.292 AC: 617 AN: 2114

Alfa AF: 0.278 Hom.: 3285

Bravo AF: 0.265

Asia WGS AF: 0.308 AC: 1070 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.012
DANN	Benign	0.67
PhyloP100		-3.4

Splicing

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

Other links and lift over

dbSNP: rs7894531; hg19: chr10-8734761;