rs318256

Variant names:

• chr8-89202955-G-A
• rs318256

Your query was ambiguous. Multiple possible variants found:

• chr8-89202955-G-A
• chr8-89202955-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 0.817 in 152,098 control chromosomes in the GnomAD database, including 52,121 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 0.82 (52121 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.272

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 (NFE) allele frequency at 95% confidence interval = 0.925 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: 0.817 AC: 124231 AN: 151980 Hom.: 52105 Cov.: 32

Gnomad AFR AF: 0.625

Gnomad AMI AF: 0.964

Gnomad AMR AF: 0.819

Gnomad ASJ AF: 0.880

Gnomad EAS AF: 0.661

Gnomad SAS AF: 0.808

Gnomad FIN AF: 0.882

Gnomad MID AF: 0.873

Gnomad NFE AF: 0.931

Gnomad OTH AF: 0.837

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

GnomAD4 genome AF: 0.817 AC: 124297 AN: 152098 Hom.: 52121 Cov.: 32 AF XY: 0.816 AC XY: 60687 AN XY: 74338

Gnomad4 AFR AF: 0.625

Gnomad4 AMR AF: 0.818

Gnomad4 ASJ AF: 0.880

Gnomad4 EAS AF: 0.661

Gnomad4 SAS AF: 0.809

Gnomad4 FIN AF: 0.882

Gnomad4 NFE AF: 0.931

Gnomad4 OTH AF: 0.837

Alfa AF: 0.864 Hom.: 10136

Bravo AF: 0.802

Asia WGS AF: 0.717 AC: 2496 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.5
DANN	Benign	0.45

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs318256; hg19: chr8-90215184;