rs2323457

Variant names:

• chr17-14650873-C-A
• rs2323457

Your query was ambiguous. Multiple possible variants found:

• chr17-14650873-C-A
• chr17-14650873-C-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 0.44 in 152,108 control chromosomes in the GnomAD database, including 18,173 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 (18173 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.591
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.763 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.440 AC: 66907 AN: 151990 Hom.: 18141 Cov.: 33

Gnomad AFR AF: 0.770

Gnomad AMI AF: 0.479

Gnomad AMR AF: 0.365

Gnomad ASJ AF: 0.351

Gnomad EAS AF: 0.567

Gnomad SAS AF: 0.354

Gnomad FIN AF: 0.259

Gnomad MID AF: 0.415

Gnomad NFE AF: 0.286

Gnomad OTH AF: 0.416

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

GnomAD4 genome AF: 0.440 AC: 66984 AN: 152108 Hom.: 18173 Cov.: 33 AF XY: 0.438 AC XY: 32565 AN XY: 74370

African (AFR) AF: 0.770 AC: 31940 AN: 41478

American (AMR) AF: 0.364 AC: 5570 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.351 AC: 1219 AN: 3470

East Asian (EAS) AF: 0.567 AC: 2932 AN: 5174

South Asian (SAS) AF: 0.354 AC: 1708 AN: 4826

European-Finnish (FIN) AF: 0.259 AC: 2742 AN: 10576

Middle Eastern (MID) AF: 0.432 AC: 127 AN: 294

European-Non Finnish (NFE) AF: 0.286 AC: 19441 AN: 67988

Other (OTH) AF: 0.413 AC: 868 AN: 2104

Alfa AF: 0.337 Hom.: 5625

Bravo AF: 0.467

Asia WGS AF: 0.437 AC: 1520 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	9.3
DANN	Benign	0.72
PhyloP100		0.59

Splicing

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

Other links and lift over

dbSNP: rs2323457; hg19: chr17-14554190;