rs7296288

Variant names:

• chr12-49086185-A-C
• rs7296288

Your query was ambiguous. Multiple possible variants found:

• chr12-49086185-A-C
• chr12-49086185-A-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 0.501 in 152,080 control chromosomes in the GnomAD database, including 19,420 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 0.50 (19420 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.94

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.571 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: 0.501 AC: 76060 AN: 151960 Hom.: 19380 Cov.: 32

Gnomad AFR AF: 0.576

Gnomad AMI AF: 0.506

Gnomad AMR AF: 0.408

Gnomad ASJ AF: 0.364

Gnomad EAS AF: 0.424

Gnomad SAS AF: 0.545

Gnomad FIN AF: 0.543

Gnomad MID AF: 0.364

Gnomad NFE AF: 0.480

Gnomad OTH AF: 0.450

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

GnomAD4 genome AF: 0.501 AC: 76162 AN: 152080 Hom.: 19420 Cov.: 32 AF XY: 0.502 AC XY: 37287 AN XY: 74334

Gnomad4 AFR AF: 0.577

Gnomad4 AMR AF: 0.408

Gnomad4 ASJ AF: 0.364

Gnomad4 EAS AF: 0.424

Gnomad4 SAS AF: 0.546

Gnomad4 FIN AF: 0.543

Gnomad4 NFE AF: 0.480

Gnomad4 OTH AF: 0.448

Alfa AF: 0.464 Hom.: 32467

Bravo AF: 0.484

Asia WGS AF: 0.481 AC: 1671 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.046
DANN	Benign	0.71

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7296288; hg19: chr12-49479968;