rs10886848

Variant names:

• chr10-121081757-C-A
• rs10886848

Your query was ambiguous. Multiple possible variants found:

• chr10-121081757-C-A
• chr10-121081757-C-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 0.357 in 152,006 control chromosomes in the GnomAD database, including 12,185 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 (12185 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0250
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.592 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: 0.357 AC: 54180 AN: 151888 Hom.: 12134 Cov.: 33

Gnomad AFR AF: 0.598

Gnomad AMI AF: 0.146

Gnomad AMR AF: 0.418

Gnomad ASJ AF: 0.250

Gnomad EAS AF: 0.575

Gnomad SAS AF: 0.430

Gnomad FIN AF: 0.245

Gnomad MID AF: 0.291

Gnomad NFE AF: 0.201

Gnomad OTH AF: 0.333

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

GnomAD4 genome AF: 0.357 AC: 54292 AN: 152006 Hom.: 12185 Cov.: 33 AF XY: 0.364 AC XY: 27062 AN XY: 74304

African (AFR) AF: 0.599 AC: 24799 AN: 41428

American (AMR) AF: 0.419 AC: 6396 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.250 AC: 864 AN: 3462

East Asian (EAS) AF: 0.575 AC: 2974 AN: 5172

South Asian (SAS) AF: 0.429 AC: 2067 AN: 4820

European-Finnish (FIN) AF: 0.245 AC: 2585 AN: 10554

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

European-Non Finnish (NFE) AF: 0.201 AC: 13681 AN: 67992

Other (OTH) AF: 0.336 AC: 707 AN: 2102

Alfa AF: 0.236 Hom.: 2721

Bravo AF: 0.379

Asia WGS AF: 0.549 AC: 1906 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	2.8
DANN	Benign	0.37
PhyloP100		0.025

Splicing

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

Other links and lift over

dbSNP: rs10886848; hg19: chr10-122841270;