rs2798983

Variant names:

• chr14-41303030-C-T
• rs2798983

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 0.756 in 151,532 control chromosomes in the GnomAD database, including 43,542 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 0.76 (43542 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0270

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (Cadd=9.289).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.814 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: 0.756 AC: 114458 AN: 151414 Hom.: 43483 Cov.: 30

Gnomad AFR AF: 0.821

Gnomad AMI AF: 0.730

Gnomad AMR AF: 0.785

Gnomad ASJ AF: 0.770

Gnomad EAS AF: 0.750

Gnomad SAS AF: 0.654

Gnomad FIN AF: 0.683

Gnomad MID AF: 0.763

Gnomad NFE AF: 0.728

Gnomad OTH AF: 0.773

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

GnomAD4 genome AF: 0.756 AC: 114577 AN: 151532 Hom.: 43542 Cov.: 30 AF XY: 0.755 AC XY: 55926 AN XY: 74062

Gnomad4 AFR AF: 0.822

Gnomad4 AMR AF: 0.785

Gnomad4 ASJ AF: 0.770

Gnomad4 EAS AF: 0.750

Gnomad4 SAS AF: 0.653

Gnomad4 FIN AF: 0.683

Gnomad4 NFE AF: 0.728

Gnomad4 OTH AF: 0.777

Alfa AF: 0.755 Hom.: 5406

Bravo AF: 0.767

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
CADD	Benign	9.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2798983; hg19: -;