8-23895938-A-G

Variant names:

• chr8-23895938-A-G
• rs819188

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 0.505 in 151,832 control chromosomes in the GnomAD database, including 20,081 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 0.51 (20081 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.128
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.81 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.505 AC: 76682 AN: 151714 Hom.: 20075 Cov.: 31

Gnomad AFR AF: 0.479

Gnomad AMI AF: 0.507

Gnomad AMR AF: 0.602

Gnomad ASJ AF: 0.584

Gnomad EAS AF: 0.727

Gnomad SAS AF: 0.832

Gnomad FIN AF: 0.409

Gnomad MID AF: 0.570

Gnomad NFE AF: 0.470

Gnomad OTH AF: 0.518

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

GnomAD4 genome AF: 0.505 AC: 76733 AN: 151832 Hom.: 20081 Cov.: 31 AF XY: 0.510 AC XY: 37880 AN XY: 74206

African (AFR) AF: 0.478 AC: 19805 AN: 41390

American (AMR) AF: 0.602 AC: 9187 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.584 AC: 2024 AN: 3468

East Asian (EAS) AF: 0.727 AC: 3729 AN: 5132

South Asian (SAS) AF: 0.831 AC: 3989 AN: 4798

European-Finnish (FIN) AF: 0.409 AC: 4313 AN: 10542

Middle Eastern (MID) AF: 0.568 AC: 166 AN: 292

European-Non Finnish (NFE) AF: 0.470 AC: 31956 AN: 67936

Other (OTH) AF: 0.522 AC: 1103 AN: 2112

Alfa AF: 0.474 Hom.: 7071

Bravo AF: 0.514

Asia WGS AF: 0.741 AC: 2577 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.7
DANN	Benign	0.38
PhyloP100		-0.13

Splicing

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

Other links and lift over

dbSNP: rs819188; hg19: chr8-23753451;