rs6994351

Variant names:

• chr8-72994395-A-G
• rs6994351

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 0.363 in 152,008 control chromosomes in the GnomAD database, including 10,602 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 0.36 (10602 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.53

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.393 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: 0.363 AC: 55183 AN: 151888 Hom.: 10594 Cov.: 32

Gnomad AFR AF: 0.398

Gnomad AMI AF: 0.243

Gnomad AMR AF: 0.274

Gnomad ASJ AF: 0.349

Gnomad EAS AF: 0.0385

Gnomad SAS AF: 0.225

Gnomad FIN AF: 0.417

Gnomad MID AF: 0.362

Gnomad NFE AF: 0.391

Gnomad OTH AF: 0.349

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

GnomAD4 genome AF: 0.363 AC: 55232 AN: 152008 Hom.: 10602 Cov.: 32 AF XY: 0.358 AC XY: 26633 AN XY: 74294

Gnomad4 AFR AF: 0.398

Gnomad4 AMR AF: 0.274

Gnomad4 ASJ AF: 0.349

Gnomad4 EAS AF: 0.0386

Gnomad4 SAS AF: 0.225

Gnomad4 FIN AF: 0.417

Gnomad4 NFE AF: 0.391

Gnomad4 OTH AF: 0.345

Alfa AF: 0.379 Hom.: 6046

Bravo AF: 0.356

Asia WGS AF: 0.157 AC: 547 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.19
DANN	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6994351; hg19: chr8-73906630; COSMIC: COSV69484393;