rs7815159

Variant names:

• chr8-5041493-C-A
• rs7815159

Your query was ambiguous. Multiple possible variants found:

• chr8-5041493-C-A
• chr8-5041493-C-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 0.055 in 152,122 control chromosomes in the GnomAD database, including 281 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 0.055 (281 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.134
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.112 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.0550 AC: 8361 AN: 152002 Hom.: 284 Cov.: 32

Gnomad AFR AF: 0.0585

Gnomad AMI AF: 0.0603

Gnomad AMR AF: 0.0350

Gnomad ASJ AF: 0.0190

Gnomad EAS AF: 0.120

Gnomad SAS AF: 0.0739

Gnomad FIN AF: 0.103

Gnomad MID AF: 0.0380

Gnomad NFE AF: 0.0458

Gnomad OTH AF: 0.0456

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

GnomAD4 genome AF: 0.0550 AC: 8363 AN: 152122 Hom.: 281 Cov.: 32 AF XY: 0.0572 AC XY: 4253 AN XY: 74384

African (AFR) AF: 0.0584 AC: 2423 AN: 41500

American (AMR) AF: 0.0349 AC: 534 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.0190 AC: 66 AN: 3470

East Asian (EAS) AF: 0.120 AC: 619 AN: 5164

South Asian (SAS) AF: 0.0741 AC: 357 AN: 4816

European-Finnish (FIN) AF: 0.103 AC: 1087 AN: 10580

Middle Eastern (MID) AF: 0.0374 AC: 11 AN: 294

European-Non Finnish (NFE) AF: 0.0458 AC: 3115 AN: 67998

Other (OTH) AF: 0.0456 AC: 96 AN: 2104

Alfa AF: 0.0401 Hom.: 89

Bravo AF: 0.0486

Asia WGS AF: 0.0950 AC: 331 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.6
DANN	Benign	0.29
PhyloP100		0.13

Splicing

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

Other links and lift over

dbSNP: rs7815159; hg19: chr8-4899015;