8-75703428-A-G

Variant names:

• chr8-75703428-A-G
• rs4735692

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 0.484 in 151,420 control chromosomes in the GnomAD database, including 18,262 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 0.48 (18262 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.369
• Publications: 28 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 = 0.595 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: 0.484 AC: 73233 AN: 151302 Hom.: 18235 Cov.: 32

Gnomad AFR AF: 0.575

Gnomad AMI AF: 0.489

Gnomad AMR AF: 0.531

Gnomad ASJ AF: 0.420

Gnomad EAS AF: 0.613

Gnomad SAS AF: 0.572

Gnomad FIN AF: 0.403

Gnomad MID AF: 0.484

Gnomad NFE AF: 0.418

Gnomad OTH AF: 0.472

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

GnomAD4 genome AF: 0.484 AC: 73304 AN: 151420 Hom.: 18262 Cov.: 32 AF XY: 0.487 AC XY: 36065 AN XY: 74024

African (AFR) AF: 0.575 AC: 23817 AN: 41398

American (AMR) AF: 0.532 AC: 8073 AN: 15188

Ashkenazi Jewish (ASJ) AF: 0.420 AC: 1454 AN: 3460

East Asian (EAS) AF: 0.612 AC: 3162 AN: 5164

South Asian (SAS) AF: 0.572 AC: 2756 AN: 4818

European-Finnish (FIN) AF: 0.403 AC: 4251 AN: 10536

Middle Eastern (MID) AF: 0.469 AC: 138 AN: 294

European-Non Finnish (NFE) AF: 0.418 AC: 28212 AN: 67548

Other (OTH) AF: 0.473 AC: 995 AN: 2102

Alfa AF: 0.440 Hom.: 57893

Bravo AF: 0.492

Asia WGS AF: 0.583 AC: 2023 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	1.6
DANN	Benign	0.60
PhyloP100		-0.37

Splicing

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

Other links and lift over

dbSNP: rs4735692; hg19: chr8-76615663; COSMIC: COSV64449495;