rs11846868

Variant names:

• chr14-49321339-G-A
• rs11846868

Your query was ambiguous. Multiple possible variants found:

• chr14-49321339-G-A
• chr14-49321339-G-C
• chr14-49321339-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 0.586 in 152,104 control chromosomes in the GnomAD database, including 27,141 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 0.59 (27141 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.138
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.964 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: 0.586 AC: 89114 AN: 151986 Hom.: 27129 Cov.: 32

Gnomad AFR AF: 0.675

Gnomad AMI AF: 0.453

Gnomad AMR AF: 0.435

Gnomad ASJ AF: 0.587

Gnomad EAS AF: 0.987

Gnomad SAS AF: 0.779

Gnomad FIN AF: 0.510

Gnomad MID AF: 0.633

Gnomad NFE AF: 0.536

Gnomad OTH AF: 0.577

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

GnomAD4 genome AF: 0.586 AC: 89163 AN: 152104 Hom.: 27141 Cov.: 32 AF XY: 0.588 AC XY: 43733 AN XY: 74346

African (AFR) AF: 0.675 AC: 28004 AN: 41490

American (AMR) AF: 0.435 AC: 6639 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.587 AC: 2036 AN: 3466

East Asian (EAS) AF: 0.987 AC: 5108 AN: 5176

South Asian (SAS) AF: 0.778 AC: 3746 AN: 4818

European-Finnish (FIN) AF: 0.510 AC: 5390 AN: 10576

Middle Eastern (MID) AF: 0.626 AC: 184 AN: 294

European-Non Finnish (NFE) AF: 0.536 AC: 36421 AN: 67990

Other (OTH) AF: 0.579 AC: 1223 AN: 2112

Alfa AF: 0.556 Hom.: 30078

Bravo AF: 0.581

Asia WGS AF: 0.829 AC: 2883 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.6
DANN	Benign	0.76
PhyloP100		-0.14

Splicing

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

Other links and lift over

dbSNP: rs11846868; hg19: chr14-49788057;