rs10877945

Variant names:

• chr12-63052182-G-A
• rs10877945

Your query was ambiguous. Multiple possible variants found:

• chr12-63052182-G-A
• chr12-63052182-G-C
• chr12-63052182-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 0.363 in 151,946 control chromosomes in the GnomAD database, including 10,663 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 0.36 (10663 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0240

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.436 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: 0.363 AC: 55138 AN: 151828 Hom.: 10662 Cov.: 32

Gnomad AFR AF: 0.234

Gnomad AMI AF: 0.516

Gnomad AMR AF: 0.325

Gnomad ASJ AF: 0.383

Gnomad EAS AF: 0.295

Gnomad SAS AF: 0.443

Gnomad FIN AF: 0.401

Gnomad MID AF: 0.370

Gnomad NFE AF: 0.440

Gnomad OTH AF: 0.369

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

GnomAD4 genome AF: 0.363 AC: 55153 AN: 151946 Hom.: 10663 Cov.: 32 AF XY: 0.362 AC XY: 26862 AN XY: 74260

Gnomad4 AFR AF: 0.234

Gnomad4 AMR AF: 0.325

Gnomad4 ASJ AF: 0.383

Gnomad4 EAS AF: 0.295

Gnomad4 SAS AF: 0.444

Gnomad4 FIN AF: 0.401

Gnomad4 NFE AF: 0.440

Gnomad4 OTH AF: 0.369

Alfa AF: 0.405 Hom.: 12979

Bravo AF: 0.348

Asia WGS AF: 0.369 AC: 1283 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	4.4
DANN	Benign	0.24

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10877945; hg19: chr12-63445962;