rs4924134

Variant names:

• chr15-34702364-A-G
• rs4924134

Your query was ambiguous. Multiple possible variants found:

• chr15-34702364-A-G
• chr15-34702364-A-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 0.408 in 151,918 control chromosomes in the GnomAD database, including 12,791 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 0.41 (12791 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.877

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.569 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: 0.408 AC: 61908 AN: 151800 Hom.: 12786 Cov.: 31

Gnomad AFR AF: 0.377

Gnomad AMI AF: 0.657

Gnomad AMR AF: 0.372

Gnomad ASJ AF: 0.345

Gnomad EAS AF: 0.438

Gnomad SAS AF: 0.588

Gnomad FIN AF: 0.347

Gnomad MID AF: 0.293

Gnomad NFE AF: 0.430

Gnomad OTH AF: 0.404

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

GnomAD4 genome AF: 0.408 AC: 61946 AN: 151918 Hom.: 12791 Cov.: 31 AF XY: 0.406 AC XY: 30175 AN XY: 74248

Gnomad4 AFR AF: 0.377

Gnomad4 AMR AF: 0.372

Gnomad4 ASJ AF: 0.345

Gnomad4 EAS AF: 0.437

Gnomad4 SAS AF: 0.587

Gnomad4 FIN AF: 0.347

Gnomad4 NFE AF: 0.430

Gnomad4 OTH AF: 0.406

Alfa AF: 0.405 Hom.: 1571

Bravo AF: 0.404

Asia WGS AF: 0.517 AC: 1798 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	2.3
DANN	Benign	0.53

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4924134; hg19: chr15-34994565;