rs7831150

Variant names:

• chr8-127487193-A-G
• rs7831150

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 0.0463 in 151,910 control chromosomes in the GnomAD database, including 181 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 0.046 (181 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.279
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.0867 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: 0.0462 AC: 7017 AN: 151794 Hom.: 178 Cov.: 31

Gnomad AFR AF: 0.0620

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0668

Gnomad ASJ AF: 0.0150

Gnomad EAS AF: 0.0936

Gnomad SAS AF: 0.0324

Gnomad FIN AF: 0.0379

Gnomad MID AF: 0.0253

Gnomad NFE AF: 0.0333

Gnomad OTH AF: 0.0366

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

GnomAD4 genome AF: 0.0463 AC: 7034 AN: 151910 Hom.: 181 Cov.: 31 AF XY: 0.0468 AC XY: 3473 AN XY: 74240

African (AFR) AF: 0.0620 AC: 2569 AN: 41444

American (AMR) AF: 0.0673 AC: 1027 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.0150 AC: 52 AN: 3466

East Asian (EAS) AF: 0.0936 AC: 483 AN: 5160

South Asian (SAS) AF: 0.0326 AC: 157 AN: 4810

European-Finnish (FIN) AF: 0.0379 AC: 397 AN: 10464

Middle Eastern (MID) AF: 0.0272 AC: 8 AN: 294

European-Non Finnish (NFE) AF: 0.0333 AC: 2263 AN: 67998

Other (OTH) AF: 0.0372 AC: 78 AN: 2098

Alfa AF: 0.0483 Hom.: 105

Bravo AF: 0.0495

Asia WGS AF: 0.0730 AC: 252 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	4.4
DANN	Benign	0.53
PhyloP100		0.28

Splicing

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

Other links and lift over

dbSNP: rs7831150; hg19: chr8-128499438;