rs8007744

Variant names:

• chr14-27860190-A-G
• rs8007744

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 0.31 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
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• 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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.539 AC: 22361 AN: 41468

American (AMR) AF: 0.208 AC: 3183 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.221 AC: 765 AN: 3468

East Asian (EAS) AF: 0.305 AC: 1577 AN: 5164

South Asian (SAS) AF: 0.338 AC: 1631 AN: 4820

European-Finnish (FIN) AF: 0.176 AC: 1862 AN: 10592

Middle Eastern (MID) AF: 0.272 AC: 80 AN: 294

European-Non Finnish (NFE) AF: 0.219 AC: 14865 AN: 68002

Other (OTH) AF: 0.278 AC: 588 AN: 2112

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
PhyloP100		0.026

Splicing

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

Other links and lift over

dbSNP: rs8007744; hg19: chr14-28329396;