rs4804806

Variant names:

• chr19-7751739-G-A
• rs4804806

Your query was ambiguous. Multiple possible variants found:

• chr19-7751739-G-A
• chr19-7751739-G-C

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 0.355 in 152,086 control chromosomes in the GnomAD database, including 9,893 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 0.36 (9893 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.90

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.05).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.41 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: 0.355 AC: 53942 AN: 151968 Hom.: 9876 Cov.: 32

Gnomad AFR AF: 0.363

Gnomad AMI AF: 0.475

Gnomad AMR AF: 0.419

Gnomad ASJ AF: 0.372

Gnomad EAS AF: 0.135

Gnomad SAS AF: 0.202

Gnomad FIN AF: 0.317

Gnomad MID AF: 0.446

Gnomad NFE AF: 0.365

Gnomad OTH AF: 0.388

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

GnomAD4 genome AF: 0.355 AC: 53997 AN: 152086 Hom.: 9893 Cov.: 32 AF XY: 0.351 AC XY: 26124 AN XY: 74362

Gnomad4 AFR AF: 0.363

Gnomad4 AMR AF: 0.419

Gnomad4 ASJ AF: 0.372

Gnomad4 EAS AF: 0.136

Gnomad4 SAS AF: 0.202

Gnomad4 FIN AF: 0.317

Gnomad4 NFE AF: 0.365

Gnomad4 OTH AF: 0.389

Alfa AF: 0.367 Hom.: 10072

Bravo AF: 0.367

Asia WGS AF: 0.201 AC: 701 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.17
DANN	Benign	0.15

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4804806; hg19: chr19-7816625;