rs12572077

Variant names:

• chr10-36818327-C-A
• rs12572077

Your query was ambiguous. Multiple possible variants found:

• chr10-36818327-C-A
• chr10-36818327-C-G

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 0.393 in 152,092 control chromosomes in the GnomAD database, including 12,362 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 0.39 (12362 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.118

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.721 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: 0.393 AC: 59782 AN: 151974 Hom.: 12352 Cov.: 33

Gnomad AFR AF: 0.348

Gnomad AMI AF: 0.307

Gnomad AMR AF: 0.445

Gnomad ASJ AF: 0.344

Gnomad EAS AF: 0.740

Gnomad SAS AF: 0.627

Gnomad FIN AF: 0.397

Gnomad MID AF: 0.510

Gnomad NFE AF: 0.369

Gnomad OTH AF: 0.388

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

GnomAD4 genome AF: 0.393 AC: 59809 AN: 152092 Hom.: 12362 Cov.: 33 AF XY: 0.402 AC XY: 29857 AN XY: 74332

Gnomad4 AFR AF: 0.347

Gnomad4 AMR AF: 0.445

Gnomad4 ASJ AF: 0.344

Gnomad4 EAS AF: 0.741

Gnomad4 SAS AF: 0.628

Gnomad4 FIN AF: 0.397

Gnomad4 NFE AF: 0.369

Gnomad4 OTH AF: 0.390

Alfa AF: 0.390 Hom.: 5574

Bravo AF: 0.391

Asia WGS AF: 0.665 AC: 2309 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.5
DANN	Benign	0.49

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs12572077; hg19: chr10-37107255;