chr8-42742089-C-G

Variant names:

• chr8-42742089-C-G
• rs6987323

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.034 in 152,274 control chromosomes in the GnomAD database, including 133 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 0.034 (133 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.130

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.0935 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: 0.0341 AC: 5193 AN: 152156 Hom.: 133 Cov.: 32

Gnomad AFR AF: 0.00951

Gnomad AMI AF: 0.0757

Gnomad AMR AF: 0.0297

Gnomad ASJ AF: 0.0965

Gnomad EAS AF: 0.000772

Gnomad SAS AF: 0.101

Gnomad FIN AF: 0.0496

Gnomad MID AF: 0.133

Gnomad NFE AF: 0.0411

Gnomad OTH AF: 0.0425

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

GnomAD4 genome AF: 0.0340 AC: 5183 AN: 152274 Hom.: 133 Cov.: 32 AF XY: 0.0347 AC XY: 2581 AN XY: 74448

Gnomad4 AFR AF: 0.00948

Gnomad4 AMR AF: 0.0297

Gnomad4 ASJ AF: 0.0965

Gnomad4 EAS AF: 0.000773

Gnomad4 SAS AF: 0.101

Gnomad4 FIN AF: 0.0496

Gnomad4 NFE AF: 0.0411

Gnomad4 OTH AF: 0.0416

Alfa AF: 0.00902 Hom.: 1

Bravo AF: 0.0309

Asia WGS AF: 0.0400 AC: 140 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	0.94
DANN	Benign	0.29

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6987323; hg19: chr8-42597232;