rs34861192

Variant names:

• chr19-7668689-G-A
• rs34861192

Your query was ambiguous. Multiple possible variants found:

• chr19-7668689-G-A
• chr19-7668689-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 0.0321 in 152,042 control chromosomes in the GnomAD database, including 222 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 0.032 (222 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.365

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.178 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: 0.0321 AC: 4883 AN: 151924 Hom.: 223 Cov.: 32

Gnomad AFR AF: 0.0719

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0101

Gnomad ASJ AF: 0.00144

Gnomad EAS AF: 0.187

Gnomad SAS AF: 0.0293

Gnomad FIN AF: 0.00377

Gnomad MID AF: 0.00316

Gnomad NFE AF: 0.00833

Gnomad OTH AF: 0.0192

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

GnomAD4 genome AF: 0.0321 AC: 4885 AN: 152042 Hom.: 222 Cov.: 32 AF XY: 0.0320 AC XY: 2377 AN XY: 74336

Gnomad4 AFR AF: 0.0717

Gnomad4 AMR AF: 0.0100

Gnomad4 ASJ AF: 0.00144

Gnomad4 EAS AF: 0.187

Gnomad4 SAS AF: 0.0293

Gnomad4 FIN AF: 0.00377

Gnomad4 NFE AF: 0.00831

Gnomad4 OTH AF: 0.0195

Alfa AF: 0.00585 Hom.: 0

Bravo AF: 0.0346

Asia WGS AF: 0.0950 AC: 329 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	6.0
DANN	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs34861192; hg19: chr19-7733575;