rs1205091

chr14-71812883-G-A

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 0.432 in 151,920 control chromosomes in the GnomAD database, including 14,362 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 0.43 (14362 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.03

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.468 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: 0.432 AC: 65616 AN: 151802 Hom.: 14345 Cov.: 31

Gnomad AFR AF: 0.408

Gnomad AMI AF: 0.225

Gnomad AMR AF: 0.477

Gnomad ASJ AF: 0.296

Gnomad EAS AF: 0.369

Gnomad SAS AF: 0.270

Gnomad FIN AF: 0.490

Gnomad MID AF: 0.358

Gnomad NFE AF: 0.455

Gnomad OTH AF: 0.402

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

GnomAD4 genome AF: 0.432 AC: 65681 AN: 151920 Hom.: 14362 Cov.: 31 AF XY: 0.432 AC XY: 32076 AN XY: 74242

Gnomad4 AFR AF: 0.408

Gnomad4 AMR AF: 0.477

Gnomad4 ASJ AF: 0.296

Gnomad4 EAS AF: 0.369

Gnomad4 SAS AF: 0.271

Gnomad4 FIN AF: 0.490

Gnomad4 NFE AF: 0.455

Gnomad4 OTH AF: 0.399

Alfa AF: 0.438 Hom.: 6944

Bravo AF: 0.433

Asia WGS AF: 0.333 AC: 1158 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	0.78
Dann	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1205091; hg19: chr14-72279600;