rs1952415

Variant names:

• chr14-23808776-A-C
• rs1952415

Your query was ambiguous. Multiple possible variants found:

• chr14-23808776-A-C
• chr14-23808776-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 0.343 in 151,896 control chromosomes in the GnomAD database, including 9,506 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 0.34 (9506 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.437

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.467 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: 0.343 AC: 52102 AN: 151778 Hom.: 9495 Cov.: 32

Gnomad AFR AF: 0.471

Gnomad AMI AF: 0.519

Gnomad AMR AF: 0.278

Gnomad ASJ AF: 0.272

Gnomad EAS AF: 0.482

Gnomad SAS AF: 0.352

Gnomad FIN AF: 0.329

Gnomad MID AF: 0.206

Gnomad NFE AF: 0.274

Gnomad OTH AF: 0.314

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

GnomAD4 genome AF: 0.343 AC: 52167 AN: 151896 Hom.: 9506 Cov.: 32 AF XY: 0.348 AC XY: 25818 AN XY: 74248

Gnomad4 AFR AF: 0.472

Gnomad4 AMR AF: 0.277

Gnomad4 ASJ AF: 0.272

Gnomad4 EAS AF: 0.483

Gnomad4 SAS AF: 0.353

Gnomad4 FIN AF: 0.329

Gnomad4 NFE AF: 0.274

Gnomad4 OTH AF: 0.313

Alfa AF: 0.280 Hom.: 12442

Bravo AF: 0.343

Asia WGS AF: 0.436 AC: 1511 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.5
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1952415; hg19: chr14-24277985;