rs7012492

Variant names:

• chr8-91435873-C-A
• rs7012492

Your query was ambiguous. Multiple possible variants found:

• chr8-91435873-C-A
• chr8-91435873-C-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 0.226 in 151,990 control chromosomes in the GnomAD database, including 7,552 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 0.23 (7552 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.312

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.568 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: 0.226 AC: 34327 AN: 151872 Hom.: 7520 Cov.: 32

Gnomad AFR AF: 0.574

Gnomad AMI AF: 0.130

Gnomad AMR AF: 0.148

Gnomad ASJ AF: 0.0657

Gnomad EAS AF: 0.0421

Gnomad SAS AF: 0.0556

Gnomad FIN AF: 0.0458

Gnomad MID AF: 0.101

Gnomad NFE AF: 0.0966

Gnomad OTH AF: 0.207

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

GnomAD4 genome AF: 0.226 AC: 34416 AN: 151990 Hom.: 7552 Cov.: 32 AF XY: 0.218 AC XY: 16183 AN XY: 74288

Gnomad4 AFR AF: 0.575

Gnomad4 AMR AF: 0.148

Gnomad4 ASJ AF: 0.0657

Gnomad4 EAS AF: 0.0421

Gnomad4 SAS AF: 0.0558

Gnomad4 FIN AF: 0.0458

Gnomad4 NFE AF: 0.0966

Gnomad4 OTH AF: 0.204

Alfa AF: 0.0942 Hom.: 541

Bravo AF: 0.251

Asia WGS AF: 0.0930 AC: 323 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.32
DANN	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7012492; hg19: chr8-92448101;