chr10-44363392-C-G

Variant names:

• chr10-44363392-C-G
• rs185545

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 0.759 in 152,290 control chromosomes in the GnomAD database, including 44,078 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 0.76 (44078 hom., cov: 36)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.84
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.822 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: 0.759 AC: 115464 AN: 152172 Hom.: 44034 Cov.: 36

Gnomad AFR AF: 0.680

Gnomad AMI AF: 0.885

Gnomad AMR AF: 0.834

Gnomad ASJ AF: 0.766

Gnomad EAS AF: 0.754

Gnomad SAS AF: 0.752

Gnomad FIN AF: 0.839

Gnomad MID AF: 0.778

Gnomad NFE AF: 0.775

Gnomad OTH AF: 0.787

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

GnomAD4 genome AF: 0.759 AC: 115564 AN: 152290 Hom.: 44078 Cov.: 36 AF XY: 0.763 AC XY: 56822 AN XY: 74450

African (AFR) AF: 0.680 AC: 28261 AN: 41564

American (AMR) AF: 0.834 AC: 12768 AN: 15306

Ashkenazi Jewish (ASJ) AF: 0.766 AC: 2659 AN: 3470

East Asian (EAS) AF: 0.754 AC: 3897 AN: 5170

South Asian (SAS) AF: 0.752 AC: 3630 AN: 4830

European-Finnish (FIN) AF: 0.839 AC: 8906 AN: 10614

Middle Eastern (MID) AF: 0.789 AC: 232 AN: 294

European-Non Finnish (NFE) AF: 0.775 AC: 52735 AN: 68016

Other (OTH) AF: 0.789 AC: 1669 AN: 2114

Alfa AF: 0.719 Hom.: 2233

Bravo AF: 0.755

Asia WGS AF: 0.760 AC: 2641 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.043
DANN	Benign	0.68
PhyloP100		-1.8
Mutation Taster		=100/0	polymorphism (auto)

Splicing

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

Other links and lift over

dbSNP: rs185545; hg19: chr10-44858840;