rs8027587

Variant names:

• chr15-88705908-A-G
• rs8027587

Your query was ambiguous. Multiple possible variants found:

• chr15-88705908-A-G
• chr15-88705908-A-T

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 0.342 in 151,980 control chromosomes in the GnomAD database, including 9,174 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 0.34 (9174 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.47
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.513 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.342 AC: 51959 AN: 151862 Hom.: 9158 Cov.: 32

Gnomad AFR AF: 0.309

Gnomad AMI AF: 0.356

Gnomad AMR AF: 0.428

Gnomad ASJ AF: 0.265

Gnomad EAS AF: 0.530

Gnomad SAS AF: 0.333

Gnomad FIN AF: 0.267

Gnomad MID AF: 0.370

Gnomad NFE AF: 0.345

Gnomad OTH AF: 0.333

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

GnomAD4 genome AF: 0.342 AC: 52000 AN: 151980 Hom.: 9174 Cov.: 32 AF XY: 0.343 AC XY: 25458 AN XY: 74268

African (AFR) AF: 0.309 AC: 12834 AN: 41468

American (AMR) AF: 0.428 AC: 6538 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.265 AC: 919 AN: 3470

East Asian (EAS) AF: 0.530 AC: 2727 AN: 5148

South Asian (SAS) AF: 0.333 AC: 1603 AN: 4810

European-Finnish (FIN) AF: 0.267 AC: 2824 AN: 10566

Middle Eastern (MID) AF: 0.354 AC: 104 AN: 294

European-Non Finnish (NFE) AF: 0.345 AC: 23429 AN: 67924

Other (OTH) AF: 0.331 AC: 699 AN: 2112

Alfa AF: 0.348 Hom.: 41635

Bravo AF: 0.358

Asia WGS AF: 0.414 AC: 1437 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.28
DANN	Benign	0.31
PhyloP100		-3.5

Splicing

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

Other links and lift over

dbSNP: rs8027587; hg19: chr15-89249139;