rs1451928

Variant names:

• chr14-47871538-A-C
• rs1451928

Your query was ambiguous. Multiple possible variants found:

• chr14-47871538-A-C
• chr14-47871538-A-G
• chr14-47871538-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 0.208 in 152,138 control chromosomes in the GnomAD database, including 3,877 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 0.21 (3877 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.954

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.38 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: 0.208 AC: 31688 AN: 152020 Hom.: 3875 Cov.: 32

Gnomad AFR AF: 0.116

Gnomad AMI AF: 0.192

Gnomad AMR AF: 0.324

Gnomad ASJ AF: 0.235

Gnomad EAS AF: 0.220

Gnomad SAS AF: 0.396

Gnomad FIN AF: 0.235

Gnomad MID AF: 0.199

Gnomad NFE AF: 0.220

Gnomad OTH AF: 0.197

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

GnomAD4 genome AF: 0.208 AC: 31701 AN: 152138 Hom.: 3877 Cov.: 32 AF XY: 0.214 AC XY: 15891 AN XY: 74374

Gnomad4 AFR AF: 0.116

Gnomad4 AMR AF: 0.324

Gnomad4 ASJ AF: 0.235

Gnomad4 EAS AF: 0.221

Gnomad4 SAS AF: 0.395

Gnomad4 FIN AF: 0.235

Gnomad4 NFE AF: 0.220

Gnomad4 OTH AF: 0.195

Alfa AF: 0.187 Hom.: 1169

Bravo AF: 0.208

Asia WGS AF: 0.278 AC: 965 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	4.6
DANN	Benign	0.88

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1451928; hg19: chr14-48340741;