rs2830495

Variant names:

• chr21-26781140-C-T
• rs2830495

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 0.0704 in 152,128 control chromosomes in the GnomAD database, including 491 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 0.070 (491 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.418

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.116 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: 0.0703 AC: 10693 AN: 152010 Hom.: 490 Cov.: 31

Gnomad AFR AF: 0.119

Gnomad AMI AF: 0.0811

Gnomad AMR AF: 0.0530

Gnomad ASJ AF: 0.0162

Gnomad EAS AF: 0.0903

Gnomad SAS AF: 0.0476

Gnomad FIN AF: 0.0248

Gnomad MID AF: 0.0570

Gnomad NFE AF: 0.0548

Gnomad OTH AF: 0.0627

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

GnomAD4 genome AF: 0.0704 AC: 10711 AN: 152128 Hom.: 491 Cov.: 31 AF XY: 0.0678 AC XY: 5040 AN XY: 74376

Gnomad4 AFR AF: 0.119

Gnomad4 AMR AF: 0.0530

Gnomad4 ASJ AF: 0.0162

Gnomad4 EAS AF: 0.0903

Gnomad4 SAS AF: 0.0473

Gnomad4 FIN AF: 0.0248

Gnomad4 NFE AF: 0.0548

Gnomad4 OTH AF: 0.0616

Alfa AF: 0.0569 Hom.: 140

Bravo AF: 0.0737

Asia WGS AF: 0.0520 AC: 180 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.22
DANN	Benign	0.50

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2830495; hg19: chr21-28153459;