14-24511286-A-G

Variant names:

• chr14-24511286-A-G
• rs1956917

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 0.554 in 152,024 control chromosomes in the GnomAD database, including 24,356 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 0.55 (24356 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.154
• Publications: 12 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.637 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: 0.554 AC: 84216 AN: 151906 Hom.: 24347 Cov.: 31

Gnomad AFR AF: 0.493

Gnomad AMI AF: 0.578

Gnomad AMR AF: 0.395

Gnomad ASJ AF: 0.587

Gnomad EAS AF: 0.254

Gnomad SAS AF: 0.561

Gnomad FIN AF: 0.596

Gnomad MID AF: 0.522

Gnomad NFE AF: 0.642

Gnomad OTH AF: 0.543

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

GnomAD4 genome AF: 0.554 AC: 84262 AN: 152024 Hom.: 24356 Cov.: 31 AF XY: 0.547 AC XY: 40644 AN XY: 74300

African (AFR) AF: 0.493 AC: 20439 AN: 41448

American (AMR) AF: 0.394 AC: 6022 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.587 AC: 2039 AN: 3472

East Asian (EAS) AF: 0.254 AC: 1311 AN: 5162

South Asian (SAS) AF: 0.562 AC: 2707 AN: 4814

European-Finnish (FIN) AF: 0.596 AC: 6303 AN: 10568

Middle Eastern (MID) AF: 0.531 AC: 156 AN: 294

European-Non Finnish (NFE) AF: 0.642 AC: 43620 AN: 67964

Other (OTH) AF: 0.540 AC: 1138 AN: 2108

Alfa AF: 0.597 Hom.: 28798

Bravo AF: 0.532

Asia WGS AF: 0.365 AC: 1270 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.3
DANN	Benign	0.46
PhyloP100		-0.15

Splicing

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

Other links and lift over

dbSNP: rs1956917; hg19: chr14-24980492;