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. The variant received -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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.234 AC: 9700 AN: 41458

American (AMR) AF: 0.325 AC: 4973 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.383 AC: 1330 AN: 3470

East Asian (EAS) AF: 0.295 AC: 1515 AN: 5138

South Asian (SAS) AF: 0.444 AC: 2128 AN: 4798

European-Finnish (FIN) AF: 0.401 AC: 4236 AN: 10556

Middle Eastern (MID) AF: 0.381 AC: 112 AN: 294

European-Non Finnish (NFE) AF: 0.440 AC: 29910 AN: 67930

Other (OTH) AF: 0.369 AC: 778 AN: 2110

Alfa AF: 0.400 Hom.: 35541

Bravo AF: 0.348

Asia WGS AF: 0.369 AC: 1283 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	4.4
DANN	Benign	0.24
PhyloP100		-0.024

Splicing

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

Other links and lift over

dbSNP: rs10877945; hg19: chr12-63445962;