rs7895833

Variant names:

• chr10-67863299-G-A
• rs7895833

Your query was ambiguous. Multiple possible variants found:

• chr10-67863299-G-A
• chr10-67863299-G-C

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 0.743 in 152,024 control chromosomes in the GnomAD database, including 42,772 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 0.74 (42772 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.643

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.797 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: 0.743 AC: 112938 AN: 151906 Hom.: 42748 Cov.: 31

Gnomad AFR AF: 0.740

Gnomad AMI AF: 0.602

Gnomad AMR AF: 0.715

Gnomad ASJ AF: 0.820

Gnomad EAS AF: 0.281

Gnomad SAS AF: 0.599

Gnomad FIN AF: 0.693

Gnomad MID AF: 0.680

Gnomad NFE AF: 0.803

Gnomad OTH AF: 0.746

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

GnomAD4 genome AF: 0.743 AC: 113010 AN: 152024 Hom.: 42772 Cov.: 31 AF XY: 0.733 AC XY: 54499 AN XY: 74308

Gnomad4 AFR AF: 0.740

Gnomad4 AMR AF: 0.714

Gnomad4 ASJ AF: 0.820

Gnomad4 EAS AF: 0.281

Gnomad4 SAS AF: 0.601

Gnomad4 FIN AF: 0.693

Gnomad4 NFE AF: 0.803

Gnomad4 OTH AF: 0.748

Alfa AF: 0.768 Hom.: 10034

Bravo AF: 0.739

Asia WGS AF: 0.515 AC: 1792 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	14
DANN	Benign	0.77

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7895833; hg19: chr10-69623057;