19-10534819-A-G

Variant names:

• chr19-10534819-A-G
• rs10439163

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 0.457 in 151,850 control chromosomes in the GnomAD database, including 16,642 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 0.46 (16642 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.88
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.05).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.83 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.456 AC: 69261 AN: 151730 Hom.: 16627 Cov.: 31

Gnomad AFR AF: 0.414

Gnomad AMI AF: 0.531

Gnomad AMR AF: 0.581

Gnomad ASJ AF: 0.482

Gnomad EAS AF: 0.851

Gnomad SAS AF: 0.590

Gnomad FIN AF: 0.386

Gnomad MID AF: 0.500

Gnomad NFE AF: 0.423

Gnomad OTH AF: 0.473

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

GnomAD4 genome AF: 0.457 AC: 69322 AN: 151850 Hom.: 16642 Cov.: 31 AF XY: 0.464 AC XY: 34396 AN XY: 74164

African (AFR) AF: 0.415 AC: 17169 AN: 41406

American (AMR) AF: 0.581 AC: 8859 AN: 15238

Ashkenazi Jewish (ASJ) AF: 0.482 AC: 1671 AN: 3466

East Asian (EAS) AF: 0.851 AC: 4407 AN: 5178

South Asian (SAS) AF: 0.589 AC: 2833 AN: 4812

European-Finnish (FIN) AF: 0.386 AC: 4053 AN: 10498

Middle Eastern (MID) AF: 0.497 AC: 145 AN: 292

European-Non Finnish (NFE) AF: 0.423 AC: 28708 AN: 67940

Other (OTH) AF: 0.471 AC: 994 AN: 2110

Alfa AF: 0.439 Hom.: 2668

Bravo AF: 0.470

Asia WGS AF: 0.660 AC: 2292 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	1.1
DANN	Benign	0.40
PhyloP100		-2.9

Splicing

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

Other links and lift over

dbSNP: rs10439163; hg19: chr19-10645495;