rs12518307

Variant names:

• chr5-24684017-A-G
• rs12518307

Your query was ambiguous. Multiple possible variants found:

• chr5-24684017-A-G
• chr5-24684017-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 0.689 in 152,038 control chromosomes in the GnomAD database, including 36,572 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 0.69 (36572 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.24

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.739 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: 0.689 AC: 104699 AN: 151920 Hom.: 36545 Cov.: 32

Gnomad AFR AF: 0.600

Gnomad AMI AF: 0.928

Gnomad AMR AF: 0.661

Gnomad ASJ AF: 0.815

Gnomad EAS AF: 0.523

Gnomad SAS AF: 0.725

Gnomad FIN AF: 0.717

Gnomad MID AF: 0.826

Gnomad NFE AF: 0.744

Gnomad OTH AF: 0.719

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

GnomAD4 genome AF: 0.689 AC: 104768 AN: 152038 Hom.: 36572 Cov.: 32 AF XY: 0.688 AC XY: 51132 AN XY: 74308

Gnomad4 AFR AF: 0.601

Gnomad4 AMR AF: 0.661

Gnomad4 ASJ AF: 0.815

Gnomad4 EAS AF: 0.523

Gnomad4 SAS AF: 0.726

Gnomad4 FIN AF: 0.717

Gnomad4 NFE AF: 0.744

Gnomad4 OTH AF: 0.718

Alfa AF: 0.695 Hom.: 4381

Bravo AF: 0.684

Asia WGS AF: 0.605 AC: 2108 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.33
DANN	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs12518307; hg19: chr5-24684126;