rs10777629

Variant names:

• chr12-94820273-G-A
• rs10777629

Your query was ambiguous. Multiple possible variants found:

• chr12-94820273-G-A
• chr12-94820273-G-C
• chr12-94820273-G-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 0.821 in 152,126 control chromosomes in the GnomAD database, including 51,341 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 0.82 (51341 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.657

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.872 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: 0.821 AC: 124795 AN: 152008 Hom.: 51282 Cov.: 31

Gnomad AFR AF: 0.831

Gnomad AMI AF: 0.759

Gnomad AMR AF: 0.884

Gnomad ASJ AF: 0.783

Gnomad EAS AF: 0.892

Gnomad SAS AF: 0.802

Gnomad FIN AF: 0.850

Gnomad MID AF: 0.775

Gnomad NFE AF: 0.795

Gnomad OTH AF: 0.828

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

GnomAD4 genome AF: 0.821 AC: 124915 AN: 152126 Hom.: 51341 Cov.: 31 AF XY: 0.826 AC XY: 61390 AN XY: 74348

Gnomad4 AFR AF: 0.831

Gnomad4 AMR AF: 0.884

Gnomad4 ASJ AF: 0.783

Gnomad4 EAS AF: 0.891

Gnomad4 SAS AF: 0.801

Gnomad4 FIN AF: 0.850

Gnomad4 NFE AF: 0.795

Gnomad4 OTH AF: 0.829

Alfa AF: 0.801 Hom.: 98483

Bravo AF: 0.825

Asia WGS AF: 0.854 AC: 2969 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	7.1
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: rs10777629; hg19: chr12-95214049;