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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.147

Gnomad4 AMR AF: 0.317

Gnomad4 ASJ AF: 0.297

Gnomad4 EAS AF: 0.357

Gnomad4 SAS AF: 0.281

Gnomad4 FIN AF: 0.318

Gnomad4 NFE AF: 0.317

Gnomad4 OTH AF: 0.292

Alfa AF: 0.260 Hom.: 1666

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7894531; hg19: chr10-8734761;