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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.440 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

Gnomad4 AFR AF: 0.770

Gnomad4 AMR AF: 0.364

Gnomad4 ASJ AF: 0.351

Gnomad4 EAS AF: 0.567

Gnomad4 SAS AF: 0.354

Gnomad4 FIN AF: 0.259

Gnomad4 NFE AF: 0.286

Gnomad4 OTH AF: 0.413

Alfa AF: 0.335 Hom.: 4969

Bravo AF: 0.467

Asia WGS AF: 0.437 AC: 1520 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2323457; hg19: chr17-14554190;