rs4596632

Variant names:

• chr8-131341488-G-A
• rs4596632

Your query was ambiguous. Multiple possible variants found:

• chr8-131341488-G-A
• chr8-131341488-G-C
• chr8-131341488-G-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 0.613 in 151,868 control chromosomes in the GnomAD database, including 29,450 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 0.61 (29450 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.412
• Publications: 11 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.707 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: 0.613 AC: 93080 AN: 151748 Hom.: 29444 Cov.: 32

Gnomad AFR AF: 0.492

Gnomad AMI AF: 0.831

Gnomad AMR AF: 0.717

Gnomad ASJ AF: 0.667

Gnomad EAS AF: 0.365

Gnomad SAS AF: 0.489

Gnomad FIN AF: 0.683

Gnomad MID AF: 0.689

Gnomad NFE AF: 0.674

Gnomad OTH AF: 0.636

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

GnomAD4 genome AF: 0.613 AC: 93117 AN: 151868 Hom.: 29450 Cov.: 32 AF XY: 0.612 AC XY: 45447 AN XY: 74228

African (AFR) AF: 0.491 AC: 20351 AN: 41410

American (AMR) AF: 0.718 AC: 10961 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.667 AC: 2313 AN: 3468

East Asian (EAS) AF: 0.364 AC: 1869 AN: 5136

South Asian (SAS) AF: 0.489 AC: 2355 AN: 4812

European-Finnish (FIN) AF: 0.683 AC: 7203 AN: 10546

Middle Eastern (MID) AF: 0.686 AC: 199 AN: 290

European-Non Finnish (NFE) AF: 0.674 AC: 45789 AN: 67922

Other (OTH) AF: 0.627 AC: 1321 AN: 2106

Alfa AF: 0.652 Hom.: 101571

Bravo AF: 0.614

Asia WGS AF: 0.401 AC: 1395 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	4.0
DANN	Benign	0.45
PhyloP100		0.41

Splicing

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

Other links and lift over

dbSNP: rs4596632; hg19: chr8-132353735;