rs10751744

Variant names:

• chr10-123062696-T-A
• rs10751744

Your query was ambiguous. Multiple possible variants found:

• chr10-123062696-T-A
• chr10-123062696-T-C
• chr10-123062696-T-G

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 0.546 in 152,090 control chromosomes in the GnomAD database, including 23,329 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 0.55 (23329 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.339
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.73 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: 0.546 AC: 82935 AN: 151972 Hom.: 23327 Cov.: 32

Gnomad AFR AF: 0.419

Gnomad AMI AF: 0.435

Gnomad AMR AF: 0.586

Gnomad ASJ AF: 0.663

Gnomad EAS AF: 0.750

Gnomad SAS AF: 0.544

Gnomad FIN AF: 0.567

Gnomad MID AF: 0.627

Gnomad NFE AF: 0.590

Gnomad OTH AF: 0.565

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

GnomAD4 genome AF: 0.546 AC: 82972 AN: 152090 Hom.: 23329 Cov.: 32 AF XY: 0.547 AC XY: 40689 AN XY: 74352

African (AFR) AF: 0.418 AC: 17352 AN: 41480

American (AMR) AF: 0.586 AC: 8959 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.663 AC: 2298 AN: 3468

East Asian (EAS) AF: 0.750 AC: 3861 AN: 5150

South Asian (SAS) AF: 0.543 AC: 2620 AN: 4824

European-Finnish (FIN) AF: 0.567 AC: 6005 AN: 10586

Middle Eastern (MID) AF: 0.616 AC: 181 AN: 294

European-Non Finnish (NFE) AF: 0.590 AC: 40102 AN: 67986

Other (OTH) AF: 0.567 AC: 1198 AN: 2114

Alfa AF: 0.559 Hom.: 2969

Bravo AF: 0.542

Asia WGS AF: 0.597 AC: 2075 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.98
DANN	Benign	0.85
PhyloP100		-0.34

Splicing

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

Other links and lift over

dbSNP: rs10751744; hg19: chr10-124822212;