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. The variant received -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
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.575 AC: 23812 AN: 41444

American (AMR) AF: 0.148 AC: 2261 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.0657 AC: 228 AN: 3470

East Asian (EAS) AF: 0.0421 AC: 218 AN: 5172

South Asian (SAS) AF: 0.0558 AC: 269 AN: 4818

European-Finnish (FIN) AF: 0.0458 AC: 483 AN: 10556

Middle Eastern (MID) AF: 0.0986 AC: 29 AN: 294

European-Non Finnish (NFE) AF: 0.0966 AC: 6566 AN: 67954

Other (OTH) AF: 0.204 AC: 431 AN: 2110

Alfa AF: 0.101 Hom.: 743

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
PhyloP100		-0.31

Splicing

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

Other links and lift over

dbSNP: rs7012492; hg19: chr8-92448101;