rs2948998

Variant names:

• chr8-110286314-G-A
• rs2948998

Your query was ambiguous. Multiple possible variants found:

• chr8-110286314-G-A
• chr8-110286314-G-C

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 0.513 in 151,928 control chromosomes in the GnomAD database, including 21,208 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 0.51 (21208 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.263

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.625 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: 0.514 AC: 77958 AN: 151810 Hom.: 21193 Cov.: 32

Gnomad AFR AF: 0.335

Gnomad AMI AF: 0.563

Gnomad AMR AF: 0.493

Gnomad ASJ AF: 0.570

Gnomad EAS AF: 0.644

Gnomad SAS AF: 0.584

Gnomad FIN AF: 0.600

Gnomad MID AF: 0.544

Gnomad NFE AF: 0.594

Gnomad OTH AF: 0.521

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

GnomAD4 genome AF: 0.513 AC: 78007 AN: 151928 Hom.: 21208 Cov.: 32 AF XY: 0.515 AC XY: 38238 AN XY: 74244

Gnomad4 AFR AF: 0.335

Gnomad4 AMR AF: 0.492

Gnomad4 ASJ AF: 0.570

Gnomad4 EAS AF: 0.644

Gnomad4 SAS AF: 0.586

Gnomad4 FIN AF: 0.600

Gnomad4 NFE AF: 0.594

Gnomad4 OTH AF: 0.527

Alfa AF: 0.575 Hom.: 52425

Bravo AF: 0.492

Asia WGS AF: 0.598 AC: 2079 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.16
DANN	Benign	0.39

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2948998; hg19: chr8-111298543;