chr10-127486919-G-A

Variant names:

• chr10-127486919-G-A
• rs10765118

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 0.523 in 151,786 control chromosomes in the GnomAD database, including 21,320 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 0.52 (21320 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.724
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.581 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: 0.523 AC: 79264 AN: 151666 Hom.: 21306 Cov.: 34

Gnomad AFR AF: 0.399

Gnomad AMI AF: 0.533

Gnomad AMR AF: 0.571

Gnomad ASJ AF: 0.586

Gnomad EAS AF: 0.571

Gnomad SAS AF: 0.530

Gnomad FIN AF: 0.478

Gnomad MID AF: 0.592

Gnomad NFE AF: 0.586

Gnomad OTH AF: 0.533

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

GnomAD4 genome AF: 0.523 AC: 79323 AN: 151786 Hom.: 21320 Cov.: 34 AF XY: 0.518 AC XY: 38374 AN XY: 74146

African (AFR) AF: 0.399 AC: 16506 AN: 41402

American (AMR) AF: 0.572 AC: 8732 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.586 AC: 2031 AN: 3468

East Asian (EAS) AF: 0.571 AC: 2936 AN: 5146

South Asian (SAS) AF: 0.530 AC: 2553 AN: 4816

European-Finnish (FIN) AF: 0.478 AC: 5012 AN: 10486

Middle Eastern (MID) AF: 0.582 AC: 171 AN: 294

European-Non Finnish (NFE) AF: 0.586 AC: 39771 AN: 67882

Other (OTH) AF: 0.535 AC: 1127 AN: 2106

Alfa AF: 0.575 Hom.: 42178

Bravo AF: 0.524

Asia WGS AF: 0.569 AC: 1979 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.0
DANN	Benign	0.25
PhyloP100		-0.72

Splicing

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

Other links and lift over

dbSNP: rs10765118; hg19: chr10-129285183;