rs8095315

Variant names:

• chr18-75731727-A-G
• rs8095315

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.848 in 152,206 control chromosomes in the GnomAD database, including 56,988 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 0.85 (56988 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.725
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.957 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: 0.848 AC: 128953 AN: 152090 Hom.: 56982 Cov.: 33

Gnomad AFR AF: 0.566

Gnomad AMI AF: 0.954

Gnomad AMR AF: 0.931

Gnomad ASJ AF: 0.958

Gnomad EAS AF: 0.958

Gnomad SAS AF: 0.915

Gnomad FIN AF: 0.952

Gnomad MID AF: 0.940

Gnomad NFE AF: 0.963

Gnomad OTH AF: 0.875

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

GnomAD4 genome AF: 0.848 AC: 128996 AN: 152206 Hom.: 56988 Cov.: 33 AF XY: 0.851 AC XY: 63358 AN XY: 74420

African (AFR) AF: 0.566 AC: 23465 AN: 41482

American (AMR) AF: 0.931 AC: 14252 AN: 15304

Ashkenazi Jewish (ASJ) AF: 0.958 AC: 3327 AN: 3472

East Asian (EAS) AF: 0.957 AC: 4950 AN: 5170

South Asian (SAS) AF: 0.915 AC: 4417 AN: 4826

European-Finnish (FIN) AF: 0.952 AC: 10109 AN: 10616

Middle Eastern (MID) AF: 0.942 AC: 277 AN: 294

European-Non Finnish (NFE) AF: 0.963 AC: 65483 AN: 68020

Other (OTH) AF: 0.875 AC: 1846 AN: 2110

Alfa AF: 0.885 Hom.: 9721

Bravo AF: 0.833

Asia WGS AF: 0.912 AC: 3172 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.16
DANN	Benign	0.49
PhyloP100		-0.72

Splicing

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

Other links and lift over

dbSNP: rs8095315; hg19: chr18-73443682; COSMIC: COSV53434935;