chr10-72050644-G-A

Variant names:

• chr10-72050644-G-A
• rs11000152

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 0.114 in 152,184 control chromosomes in the GnomAD database, including 1,058 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 0.11 (1058 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.425
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.158 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.114 AC: 17360 AN: 152066 Hom.: 1054 Cov.: 32

Gnomad AFR AF: 0.151

Gnomad AMI AF: 0.0680

Gnomad AMR AF: 0.163

Gnomad ASJ AF: 0.0444

Gnomad EAS AF: 0.0941

Gnomad SAS AF: 0.122

Gnomad FIN AF: 0.0699

Gnomad MID AF: 0.0538

Gnomad NFE AF: 0.0933

Gnomad OTH AF: 0.107

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

GnomAD4 genome AF: 0.114 AC: 17400 AN: 152184 Hom.: 1058 Cov.: 32 AF XY: 0.113 AC XY: 8442 AN XY: 74406

African (AFR) AF: 0.151 AC: 6279 AN: 41494

American (AMR) AF: 0.163 AC: 2493 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.0444 AC: 154 AN: 3470

East Asian (EAS) AF: 0.0947 AC: 491 AN: 5184

South Asian (SAS) AF: 0.122 AC: 589 AN: 4824

European-Finnish (FIN) AF: 0.0699 AC: 742 AN: 10610

Middle Eastern (MID) AF: 0.0510 AC: 15 AN: 294

European-Non Finnish (NFE) AF: 0.0933 AC: 6347 AN: 68008

Other (OTH) AF: 0.108 AC: 228 AN: 2106

Alfa AF: 0.0991 Hom.: 1408

Bravo AF: 0.122

Asia WGS AF: 0.113 AC: 391 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	2.1
DANN	Benign	0.55
PhyloP100		0.42

Splicing

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

Other links and lift over

dbSNP: rs11000152; hg19: chr10-73810402;