rs12605652

Variant names:

• chr18-78675166-G-A
• rs12605652

Your query was ambiguous. Multiple possible variants found:

• chr18-78675166-G-A
• chr18-78675166-G-C

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 0.331 in 150,192 control chromosomes in the GnomAD database, including 10,017 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 0.33 (10017 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.421

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 (EAS) allele frequency at 95% confidence interval = 0.625 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: 0.331 AC: 49735 AN: 150080 Hom.: 10014 Cov.: 29

Gnomad AFR AF: 0.0900

Gnomad AMI AF: 0.406

Gnomad AMR AF: 0.390

Gnomad ASJ AF: 0.314

Gnomad EAS AF: 0.642

Gnomad SAS AF: 0.476

Gnomad FIN AF: 0.496

Gnomad MID AF: 0.362

Gnomad NFE AF: 0.403

Gnomad OTH AF: 0.351

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

GnomAD4 genome AF: 0.331 AC: 49731 AN: 150192 Hom.: 10017 Cov.: 29 AF XY: 0.340 AC XY: 24897 AN XY: 73236

Gnomad4 AFR AF: 0.0898

Gnomad4 AMR AF: 0.390

Gnomad4 ASJ AF: 0.314

Gnomad4 EAS AF: 0.643

Gnomad4 SAS AF: 0.474

Gnomad4 FIN AF: 0.496

Gnomad4 NFE AF: 0.403

Gnomad4 OTH AF: 0.356

Alfa AF: 0.383 Hom.: 14663

Bravo AF: 0.310

Asia WGS AF: 0.541 AC: 1878 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	3.0
DANN	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs12605652; hg19: chr18-76435166;