rs6987323

Positions:

• chr8-42742089-C-G
• chr8-42742089-C-T

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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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;