rs1951273

chr14-35337763-T-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 0.288 in 152,176 control chromosomes in the GnomAD database, including 6,386 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 0.29 (6386 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.11

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.311 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.288 AC: 43775 AN: 152058 Hom.: 6389 Cov.: 32

Gnomad AFR AF: 0.287

Gnomad AMI AF: 0.563

Gnomad AMR AF: 0.318

Gnomad ASJ AF: 0.203

Gnomad EAS AF: 0.195

Gnomad SAS AF: 0.243

Gnomad FIN AF: 0.336

Gnomad MID AF: 0.203

Gnomad NFE AF: 0.286

Gnomad OTH AF: 0.268

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

GnomAD4 genome AF: 0.288 AC: 43805 AN: 152176 Hom.: 6386 Cov.: 32 AF XY: 0.288 AC XY: 21450 AN XY: 74412

Gnomad4 AFR AF: 0.287

Gnomad4 AMR AF: 0.318

Gnomad4 ASJ AF: 0.203

Gnomad4 EAS AF: 0.195

Gnomad4 SAS AF: 0.244

Gnomad4 FIN AF: 0.336

Gnomad4 NFE AF: 0.286

Gnomad4 OTH AF: 0.268

Alfa AF: 0.293 Hom.: 1830

Bravo AF: 0.290

Asia WGS AF: 0.221 AC: 768 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
Cadd	Benign	0.059
Dann	Benign	0.71

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1951273; hg19: chr14-35806969;