14-100187393-G-C

Variant names:

• chr14-100187393-G-C
• rs8007801

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 0.295 in 150,626 control chromosomes in the GnomAD database, including 6,794 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 0.29 (6794 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.232
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.66).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.328 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.295 AC: 44372 AN: 150508 Hom.: 6793 Cov.: 28

Gnomad AFR AF: 0.221

Gnomad AMI AF: 0.408

Gnomad AMR AF: 0.268

Gnomad ASJ AF: 0.306

Gnomad EAS AF: 0.280

Gnomad SAS AF: 0.270

Gnomad FIN AF: 0.378

Gnomad MID AF: 0.369

Gnomad NFE AF: 0.332

Gnomad OTH AF: 0.330

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

GnomAD4 genome AF: 0.295 AC: 44376 AN: 150626 Hom.: 6794 Cov.: 28 AF XY: 0.295 AC XY: 21616 AN XY: 73390

African (AFR) AF: 0.221 AC: 9040 AN: 40978

American (AMR) AF: 0.268 AC: 4014 AN: 14986

Ashkenazi Jewish (ASJ) AF: 0.306 AC: 1059 AN: 3466

East Asian (EAS) AF: 0.279 AC: 1427 AN: 5114

South Asian (SAS) AF: 0.272 AC: 1305 AN: 4800

European-Finnish (FIN) AF: 0.378 AC: 3826 AN: 10118

Middle Eastern (MID) AF: 0.381 AC: 112 AN: 294

European-Non Finnish (NFE) AF: 0.332 AC: 22535 AN: 67876

Other (OTH) AF: 0.330 AC: 690 AN: 2092

Alfa AF: 0.191 Hom.: 424

Bravo AF: 0.284

Asia WGS AF: 0.259 AC: 899 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.66
CADD	Benign	8.1
DANN	Benign	0.94
PhyloP100		0.23

Splicing

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

Other links and lift over

dbSNP: rs8007801; hg19: chr14-100653730;