rs12050395

Variant names:

• chr14-85744160-A-G
• rs12050395

Your query was ambiguous. Multiple possible variants found:

• chr14-85744160-A-G
• chr14-85744160-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.118 in 152,080 control chromosomes in the GnomAD database, including 1,778 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 0.12 (1778 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.557
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.487 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: 0.118 AC: 17953 AN: 151964 Hom.: 1769 Cov.: 32

Gnomad AFR AF: 0.138

Gnomad AMI AF: 0.111

Gnomad AMR AF: 0.238

Gnomad ASJ AF: 0.107

Gnomad EAS AF: 0.503

Gnomad SAS AF: 0.136

Gnomad FIN AF: 0.0885

Gnomad MID AF: 0.0665

Gnomad NFE AF: 0.0541

Gnomad OTH AF: 0.118

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

GnomAD4 genome AF: 0.118 AC: 17989 AN: 152080 Hom.: 1778 Cov.: 32 AF XY: 0.125 AC XY: 9301 AN XY: 74326

African (AFR) AF: 0.138 AC: 5728 AN: 41480

American (AMR) AF: 0.239 AC: 3653 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.107 AC: 370 AN: 3472

East Asian (EAS) AF: 0.503 AC: 2595 AN: 5158

South Asian (SAS) AF: 0.136 AC: 651 AN: 4802

European-Finnish (FIN) AF: 0.0885 AC: 937 AN: 10592

Middle Eastern (MID) AF: 0.0680 AC: 20 AN: 294

European-Non Finnish (NFE) AF: 0.0541 AC: 3679 AN: 67984

Other (OTH) AF: 0.121 AC: 255 AN: 2110

Alfa AF: 0.0767 Hom.: 1344

Bravo AF: 0.135

Asia WGS AF: 0.297 AC: 1031 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.5
DANN	Benign	0.49
PhyloP100		0.56

Splicing

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

Other links and lift over

dbSNP: rs12050395; hg19: chr14-86210504;