rs1834212

Variant names:

• chr15-95532324-A-G
• rs1834212

Your query was ambiguous. Multiple possible variants found:

• chr15-95532324-A-G
• chr15-95532324-A-T

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.324 in 151,562 control chromosomes in the GnomAD database, including 8,443 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 0.32 (8443 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.24

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.25).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.395 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: 0.324 AC: 49050 AN: 151448 Hom.: 8442 Cov.: 30

Gnomad AFR AF: 0.238

Gnomad AMI AF: 0.339

Gnomad AMR AF: 0.279

Gnomad ASJ AF: 0.356

Gnomad EAS AF: 0.113

Gnomad SAS AF: 0.369

Gnomad FIN AF: 0.311

Gnomad MID AF: 0.264

Gnomad NFE AF: 0.399

Gnomad OTH AF: 0.319

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

GnomAD4 genome AF: 0.324 AC: 49052 AN: 151562 Hom.: 8443 Cov.: 30 AF XY: 0.318 AC XY: 23521 AN XY: 74072

Gnomad4 AFR AF: 0.238

Gnomad4 AMR AF: 0.279

Gnomad4 ASJ AF: 0.356

Gnomad4 EAS AF: 0.114

Gnomad4 SAS AF: 0.369

Gnomad4 FIN AF: 0.311

Gnomad4 NFE AF: 0.399

Gnomad4 OTH AF: 0.316

Alfa AF: 0.374 Hom.: 14379

Bravo AF: 0.311

Asia WGS AF: 0.221 AC: 769 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.25
CADD	Benign	19
DANN	Benign	0.77

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1834212; hg19: chr15-96075553;