rs963250

Variant names:

• chr4-115247002-A-G
• rs963250

Your query was ambiguous. Multiple possible variants found:

• chr4-115247002-A-G
• chr4-115247002-A-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 0.586 in 149,912 control chromosomes in the GnomAD database, including 29,078 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 0.59 (29078 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.130

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 (NFE) allele frequency at 95% confidence interval = 0.693 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: 0.586 AC: 87851 AN: 149790 Hom.: 29068 Cov.: 30

Gnomad AFR AF: 0.339

Gnomad AMI AF: 0.843

Gnomad AMR AF: 0.657

Gnomad ASJ AF: 0.529

Gnomad EAS AF: 0.640

Gnomad SAS AF: 0.544

Gnomad FIN AF: 0.724

Gnomad MID AF: 0.562

Gnomad NFE AF: 0.698

Gnomad OTH AF: 0.599

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

GnomAD4 genome AF: 0.586 AC: 87880 AN: 149912 Hom.: 29078 Cov.: 30 AF XY: 0.588 AC XY: 42984 AN XY: 73150

Gnomad4 AFR AF: 0.339

Gnomad4 AMR AF: 0.656

Gnomad4 ASJ AF: 0.529

Gnomad4 EAS AF: 0.639

Gnomad4 SAS AF: 0.543

Gnomad4 FIN AF: 0.724

Gnomad4 NFE AF: 0.698

Gnomad4 OTH AF: 0.601

Alfa AF: 0.669 Hom.: 26773

Bravo AF: 0.578

Asia WGS AF: 0.561 AC: 1929 AN: 3452

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.71
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs963250; hg19: chr4-116168158;