rs1026504

Variant names:

• chr14-98363668-A-C
• rs1026504

Your query was ambiguous. Multiple possible variants found:

• chr14-98363668-A-C
• chr14-98363668-A-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 0.462 in 152,044 control chromosomes in the GnomAD database, including 16,500 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 0.46 (16500 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.524

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.48 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: 0.462 AC: 70213 AN: 151926 Hom.: 16466 Cov.: 32

Gnomad AFR AF: 0.474

Gnomad AMI AF: 0.428

Gnomad AMR AF: 0.386

Gnomad ASJ AF: 0.523

Gnomad EAS AF: 0.432

Gnomad SAS AF: 0.309

Gnomad FIN AF: 0.454

Gnomad MID AF: 0.506

Gnomad NFE AF: 0.484

Gnomad OTH AF: 0.440

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

GnomAD4 genome AF: 0.462 AC: 70297 AN: 152044 Hom.: 16500 Cov.: 32 AF XY: 0.458 AC XY: 33999 AN XY: 74308

Gnomad4 AFR AF: 0.475 AC: 0.474538 AN: 0.474538

Gnomad4 AMR AF: 0.386 AC: 0.386188 AN: 0.386188

Gnomad4 ASJ AF: 0.523 AC: 0.522753 AN: 0.522753

Gnomad4 EAS AF: 0.431 AC: 0.431395 AN: 0.431395

Gnomad4 SAS AF: 0.309 AC: 0.30908 AN: 0.30908

Gnomad4 FIN AF: 0.454 AC: 0.453548 AN: 0.453548

Gnomad4 NFE AF: 0.484 AC: 0.484391 AN: 0.484391

Gnomad4 OTH AF: 0.443 AC: 0.443495 AN: 0.443495

Alfa AF: 0.473 Hom.: 54057

Bravo AF: 0.458

Asia WGS AF: 0.390 AC: 1357 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	1.4
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: rs1026504; hg19: chr14-98830005;