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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.845

Gnomad4 AMR AF: 0.834

Gnomad4 ASJ AF: 0.691

Gnomad4 EAS AF: 0.707

Gnomad4 SAS AF: 0.810

Gnomad4 FIN AF: 0.769

Gnomad4 NFE AF: 0.794

Gnomad4 OTH AF: 0.784

Alfa AF: 0.785 Hom.: 47156

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4805110; hg19: chr19-35669071;