rs11851301

Variant names:

• chr14-94707929-A-G
• rs11851301

Your query was ambiguous. Multiple possible variants found:

• chr14-94707929-A-G
• chr14-94707929-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 0.439 in 151,890 control chromosomes in the GnomAD database, including 14,960 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 0.44 (14960 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.399
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.488 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: 0.439 AC: 66647 AN: 151772 Hom.: 14938 Cov.: 31

Gnomad AFR AF: 0.493

Gnomad AMI AF: 0.475

Gnomad AMR AF: 0.492

Gnomad ASJ AF: 0.466

Gnomad EAS AF: 0.212

Gnomad SAS AF: 0.378

Gnomad FIN AF: 0.273

Gnomad MID AF: 0.468

Gnomad NFE AF: 0.439

Gnomad OTH AF: 0.464

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

GnomAD4 genome AF: 0.439 AC: 66711 AN: 151890 Hom.: 14960 Cov.: 31 AF XY: 0.434 AC XY: 32245 AN XY: 74232

African (AFR) AF: 0.493 AC: 20415 AN: 41380

American (AMR) AF: 0.492 AC: 7509 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.466 AC: 1615 AN: 3466

East Asian (EAS) AF: 0.212 AC: 1090 AN: 5148

South Asian (SAS) AF: 0.378 AC: 1822 AN: 4818

European-Finnish (FIN) AF: 0.273 AC: 2884 AN: 10568

Middle Eastern (MID) AF: 0.462 AC: 135 AN: 292

European-Non Finnish (NFE) AF: 0.439 AC: 29838 AN: 67932

Other (OTH) AF: 0.460 AC: 972 AN: 2112

Alfa AF: 0.448 Hom.: 41652

Bravo AF: 0.456

Asia WGS AF: 0.316 AC: 1100 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	1.7
DANN	Benign	0.45
PhyloP100		-0.40

Splicing

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

Other links and lift over

dbSNP: rs11851301; hg19: chr14-95174266;