8-42694348-G-C

Variant names:

• chr8-42694348-G-C
• rs1955186

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 0.638 in 152,134 control chromosomes in the GnomAD database, including 34,318 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 0.64 (34318 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.654
• Publications: 6 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 (EAS) allele frequency at 95% confidence interval = 0.787 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: 0.639 AC: 97104 AN: 152016 Hom.: 34308 Cov.: 33

Gnomad AFR AF: 0.310

Gnomad AMI AF: 0.819

Gnomad AMR AF: 0.714

Gnomad ASJ AF: 0.705

Gnomad EAS AF: 0.806

Gnomad SAS AF: 0.711

Gnomad FIN AF: 0.760

Gnomad MID AF: 0.703

Gnomad NFE AF: 0.778

Gnomad OTH AF: 0.671

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

GnomAD4 genome AF: 0.638 AC: 97137 AN: 152134 Hom.: 34318 Cov.: 33 AF XY: 0.643 AC XY: 47837 AN XY: 74356

African (AFR) AF: 0.310 AC: 12862 AN: 41478

American (AMR) AF: 0.714 AC: 10917 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.705 AC: 2449 AN: 3472

East Asian (EAS) AF: 0.807 AC: 4190 AN: 5192

South Asian (SAS) AF: 0.712 AC: 3426 AN: 4810

European-Finnish (FIN) AF: 0.760 AC: 8032 AN: 10562

Middle Eastern (MID) AF: 0.704 AC: 207 AN: 294

European-Non Finnish (NFE) AF: 0.778 AC: 52890 AN: 68008

Other (OTH) AF: 0.672 AC: 1419 AN: 2112

Alfa AF: 0.604 Hom.: 2077

Bravo AF: 0.619

Asia WGS AF: 0.708 AC: 2459 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	3.1
DANN	Benign	0.48
PhyloP100		0.65

Splicing

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

Other links and lift over

dbSNP: rs1955186; hg19: chr8-42549491;