chr10-44266175-A-G

Variant names:

• chr10-44266175-A-G
• rs607363

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 0.251 in 152,070 control chromosomes in the GnomAD database, including 6,364 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 0.25 (6364 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0890
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.454 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: 0.251 AC: 38081 AN: 151952 Hom.: 6338 Cov.: 32

Gnomad AFR AF: 0.459

Gnomad AMI AF: 0.0945

Gnomad AMR AF: 0.226

Gnomad ASJ AF: 0.195

Gnomad EAS AF: 0.345

Gnomad SAS AF: 0.354

Gnomad FIN AF: 0.156

Gnomad MID AF: 0.275

Gnomad NFE AF: 0.135

Gnomad OTH AF: 0.244

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

GnomAD4 genome AF: 0.251 AC: 38162 AN: 152070 Hom.: 6364 Cov.: 32 AF XY: 0.254 AC XY: 18870 AN XY: 74356

African (AFR) AF: 0.460 AC: 19047 AN: 41422

American (AMR) AF: 0.226 AC: 3459 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.195 AC: 677 AN: 3470

East Asian (EAS) AF: 0.346 AC: 1783 AN: 5152

South Asian (SAS) AF: 0.355 AC: 1712 AN: 4822

European-Finnish (FIN) AF: 0.156 AC: 1656 AN: 10604

Middle Eastern (MID) AF: 0.265 AC: 78 AN: 294

European-Non Finnish (NFE) AF: 0.135 AC: 9157 AN: 67998

Other (OTH) AF: 0.240 AC: 507 AN: 2112

Alfa AF: 0.185 Hom.: 9469

Bravo AF: 0.265

Asia WGS AF: 0.332 AC: 1154 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	2.7
DANN	Benign	0.47
PhyloP100		-0.089

Splicing

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

Other links and lift over

dbSNP: rs607363; hg19: chr10-44761623;