rs7966485

Variant names:

• chr12-94689566-C-T
• rs7966485

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 0.461 in 151,904 control chromosomes in the GnomAD database, including 16,308 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 0.46 (16308 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0670

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.75).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.483 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: 0.461 AC: 70001 AN: 151782 Hom.: 16288 Cov.: 31

Gnomad AFR AF: 0.459

Gnomad AMI AF: 0.376

Gnomad AMR AF: 0.397

Gnomad ASJ AF: 0.472

Gnomad EAS AF: 0.267

Gnomad SAS AF: 0.465

Gnomad FIN AF: 0.494

Gnomad MID AF: 0.399

Gnomad NFE AF: 0.487

Gnomad OTH AF: 0.449

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

GnomAD4 genome AF: 0.461 AC: 70056 AN: 151904 Hom.: 16308 Cov.: 31 AF XY: 0.458 AC XY: 33994 AN XY: 74218

Gnomad4 AFR AF: 0.459

Gnomad4 AMR AF: 0.397

Gnomad4 ASJ AF: 0.472

Gnomad4 EAS AF: 0.267

Gnomad4 SAS AF: 0.466

Gnomad4 FIN AF: 0.494

Gnomad4 NFE AF: 0.488

Gnomad4 OTH AF: 0.451

Alfa AF: 0.476 Hom.: 4969

Bravo AF: 0.454

Asia WGS AF: 0.375 AC: 1306 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.75
CADD	Benign	12
DANN	Benign	0.83

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7966485; hg19: chr12-95083342;