rs4242384

Variant names:

• chr8-127506309-C-A
• rs4242384

Your query was ambiguous. Multiple possible variants found:

• chr8-127506309-C-A
• chr8-127506309-C-G

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 0.882 in 151,038 control chromosomes in the GnomAD database, including 58,859 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 0.88 (58859 hom., cov: 25)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.449
• Publications: 69 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.906 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: 0.882 AC: 133159 AN: 150920 Hom.: 58816 Cov.: 25

Gnomad AFR AF: 0.848

Gnomad AMI AF: 0.905

Gnomad AMR AF: 0.920

Gnomad ASJ AF: 0.941

Gnomad EAS AF: 0.852

Gnomad SAS AF: 0.867

Gnomad FIN AF: 0.838

Gnomad MID AF: 0.949

Gnomad NFE AF: 0.901

Gnomad OTH AF: 0.902

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

GnomAD4 genome AF: 0.882 AC: 133259 AN: 151038 Hom.: 58859 Cov.: 25 AF XY: 0.881 AC XY: 64851 AN XY: 73620

African (AFR) AF: 0.848 AC: 34850 AN: 41096

American (AMR) AF: 0.919 AC: 13967 AN: 15194

Ashkenazi Jewish (ASJ) AF: 0.941 AC: 3265 AN: 3470

East Asian (EAS) AF: 0.852 AC: 4352 AN: 5106

South Asian (SAS) AF: 0.867 AC: 4096 AN: 4724

European-Finnish (FIN) AF: 0.838 AC: 8641 AN: 10306

Middle Eastern (MID) AF: 0.959 AC: 282 AN: 294

European-Non Finnish (NFE) AF: 0.901 AC: 61109 AN: 67850

Other (OTH) AF: 0.897 AC: 1875 AN: 2090

Alfa AF: 0.894 Hom.: 243647

Bravo AF: 0.884

Asia WGS AF: 0.820 AC: 2856 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.40
DANN	Benign	0.24
PhyloP100		-0.45

Splicing

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

Other links and lift over

dbSNP: rs4242384; hg19: chr8-128518554;