rs4805110

Variant names:

• chr19-35178168-G-A
• rs4805110

Your query was ambiguous. Multiple possible variants found:

• chr19-35178168-G-A
• chr19-35178168-G-C
• chr19-35178168-G-T

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 0.805 in 152,142 control chromosomes in the GnomAD database, including 49,419 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 0.81 (49419 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0750
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.838 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: 0.805 AC: 122370 AN: 152024 Hom.: 49367 Cov.: 31

Gnomad AFR AF: 0.845

Gnomad AMI AF: 0.773

Gnomad AMR AF: 0.834

Gnomad ASJ AF: 0.691

Gnomad EAS AF: 0.707

Gnomad SAS AF: 0.810

Gnomad FIN AF: 0.769

Gnomad MID AF: 0.693

Gnomad NFE AF: 0.794

Gnomad OTH AF: 0.784

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

GnomAD4 genome AF: 0.805 AC: 122485 AN: 152142 Hom.: 49419 Cov.: 31 AF XY: 0.803 AC XY: 59717 AN XY: 74384

African (AFR) AF: 0.845 AC: 35085 AN: 41524

American (AMR) AF: 0.834 AC: 12761 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.691 AC: 2395 AN: 3466

East Asian (EAS) AF: 0.707 AC: 3646 AN: 5158

South Asian (SAS) AF: 0.810 AC: 3907 AN: 4826

European-Finnish (FIN) AF: 0.769 AC: 8138 AN: 10580

Middle Eastern (MID) AF: 0.694 AC: 204 AN: 294

European-Non Finnish (NFE) AF: 0.794 AC: 53995 AN: 67980

Other (OTH) AF: 0.784 AC: 1651 AN: 2106

Alfa AF: 0.790 Hom.: 70195

Bravo AF: 0.810

Asia WGS AF: 0.789 AC: 2746 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	2.6
DANN	Benign	0.63
PhyloP100		0.075

Splicing

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

Other links and lift over

dbSNP: rs4805110; hg19: chr19-35669071;