rs6994351

Variant names:

• chr8-72994395-A-G
• rs6994351

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 0.363 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
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

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: 0.363 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

African (AFR) AF: 0.398 AC: 16485 AN: 41450

American (AMR) AF: 0.274 AC: 4192 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.349 AC: 1212 AN: 3468

East Asian (EAS) AF: 0.0386 AC: 200 AN: 5184

South Asian (SAS) AF: 0.225 AC: 1085 AN: 4822

European-Finnish (FIN) AF: 0.417 AC: 4406 AN: 10554

Middle Eastern (MID) AF: 0.377 AC: 110 AN: 292

European-Non Finnish (NFE) AF: 0.391 AC: 26595 AN: 67944

Other (OTH) AF: 0.345 AC: 726 AN: 2106

Alfa AF: 0.379 Hom.: 6695

Bravo AF: 0.356

Asia WGS AF: 0.157 AC: 547 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.19
DANN	Benign	0.62
PhyloP100		-1.5

Splicing

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

Other links and lift over

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