rs10871777

Variant names:

• chr18-60184530-A-G
• rs10871777

Your query was ambiguous. Multiple possible variants found:

• chr18-60184530-A-G
• chr18-60184530-A-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 0.243 in 152,134 control chromosomes in the GnomAD database, including 4,687 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 0.24 (4687 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.388
• Publications: 54 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.338 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: 0.243 AC: 36867 AN: 152024 Hom.: 4685 Cov.: 32

Gnomad AFR AF: 0.295

Gnomad AMI AF: 0.309

Gnomad AMR AF: 0.162

Gnomad ASJ AF: 0.203

Gnomad EAS AF: 0.183

Gnomad SAS AF: 0.350

Gnomad FIN AF: 0.171

Gnomad MID AF: 0.294

Gnomad NFE AF: 0.238

Gnomad OTH AF: 0.229

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

GnomAD4 genome AF: 0.243 AC: 36905 AN: 152134 Hom.: 4687 Cov.: 32 AF XY: 0.239 AC XY: 17748 AN XY: 74374

African (AFR) AF: 0.295 AC: 12218 AN: 41458

American (AMR) AF: 0.162 AC: 2475 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.203 AC: 706 AN: 3470

East Asian (EAS) AF: 0.183 AC: 950 AN: 5186

South Asian (SAS) AF: 0.352 AC: 1697 AN: 4822

European-Finnish (FIN) AF: 0.171 AC: 1817 AN: 10600

Middle Eastern (MID) AF: 0.293 AC: 86 AN: 294

European-Non Finnish (NFE) AF: 0.238 AC: 16189 AN: 67994

Other (OTH) AF: 0.229 AC: 485 AN: 2114

Alfa AF: 0.242 Hom.: 15800

Bravo AF: 0.242

Asia WGS AF: 0.227 AC: 792 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.10
DANN	Benign	0.42
PhyloP100		-0.39

Splicing

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

Other links and lift over

dbSNP: rs10871777; hg19: chr18-57851763;