rs8007744

chr14-27860190-A-G

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 0.31 in 152,114 control chromosomes in the GnomAD database, including 9,048 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 0.31 (9048 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0260

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.533 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.310 AC: 47110 AN: 151996 Hom.: 9041 Cov.: 32

Gnomad AFR AF: 0.540

Gnomad AMI AF: 0.257

Gnomad AMR AF: 0.209

Gnomad ASJ AF: 0.221

Gnomad EAS AF: 0.305

Gnomad SAS AF: 0.338

Gnomad FIN AF: 0.176

Gnomad MID AF: 0.272

Gnomad NFE AF: 0.219

Gnomad OTH AF: 0.280

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

GnomAD4 genome AF: 0.310 AC: 47146 AN: 152114 Hom.: 9048 Cov.: 32 AF XY: 0.306 AC XY: 22739 AN XY: 74348

Gnomad4 AFR AF: 0.539

Gnomad4 AMR AF: 0.208

Gnomad4 ASJ AF: 0.221

Gnomad4 EAS AF: 0.305

Gnomad4 SAS AF: 0.338

Gnomad4 FIN AF: 0.176

Gnomad4 NFE AF: 0.219

Gnomad4 OTH AF: 0.278

Alfa AF: 0.287 Hom.: 1252

Bravo AF: 0.316

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
Cadd	Benign	1.6
Dann	Benign	0.68

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8007744; hg19: chr14-28329396;