rs714857

Variant names:

• chr11-15952843-G-A
• rs714857

Your query was ambiguous. Multiple possible variants found:

• chr11-15952843-G-A
• chr11-15952843-G-C
• chr11-15952843-G-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 0.262 in 152,106 control chromosomes in the GnomAD database, including 11,002 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 0.26 (11002 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.32
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.66 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: 0.262 AC: 39774 AN: 151988 Hom.: 10959 Cov.: 33

Gnomad AFR AF: 0.665

Gnomad AMI AF: 0.00110

Gnomad AMR AF: 0.190

Gnomad ASJ AF: 0.133

Gnomad EAS AF: 0.616

Gnomad SAS AF: 0.267

Gnomad FIN AF: 0.0586

Gnomad MID AF: 0.196

Gnomad NFE AF: 0.0475

Gnomad OTH AF: 0.243

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

GnomAD4 genome AF: 0.262 AC: 39874 AN: 152106 Hom.: 11002 Cov.: 33 AF XY: 0.264 AC XY: 19604 AN XY: 74384

African (AFR) AF: 0.666 AC: 27613 AN: 41456

American (AMR) AF: 0.190 AC: 2910 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.133 AC: 463 AN: 3472

East Asian (EAS) AF: 0.616 AC: 3185 AN: 5172

South Asian (SAS) AF: 0.265 AC: 1277 AN: 4810

European-Finnish (FIN) AF: 0.0586 AC: 621 AN: 10604

Middle Eastern (MID) AF: 0.194 AC: 57 AN: 294

European-Non Finnish (NFE) AF: 0.0475 AC: 3231 AN: 67994

Other (OTH) AF: 0.244 AC: 516 AN: 2114

Alfa AF: 0.154 Hom.: 1042

Bravo AF: 0.293

Asia WGS AF: 0.461 AC: 1601 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.33
DANN	Benign	0.61
PhyloP100		-2.3

Splicing

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

Other links and lift over

dbSNP: rs714857; hg19: chr11-15974389;