14-93145190-T-G

Variant names:

• chr14-93145190-T-G
• rs7151193

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 0.728 in 152,058 control chromosomes in the GnomAD database, including 40,944 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 0.73 (40944 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.384
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.84 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: 0.728 AC: 110661 AN: 151940 Hom.: 40899 Cov.: 32

Gnomad AFR AF: 0.848

Gnomad AMI AF: 0.811

Gnomad AMR AF: 0.686

Gnomad ASJ AF: 0.726

Gnomad EAS AF: 0.521

Gnomad SAS AF: 0.638

Gnomad FIN AF: 0.633

Gnomad MID AF: 0.680

Gnomad NFE AF: 0.701

Gnomad OTH AF: 0.738

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

GnomAD4 genome AF: 0.728 AC: 110752 AN: 152058 Hom.: 40944 Cov.: 32 AF XY: 0.723 AC XY: 53711 AN XY: 74320

African (AFR) AF: 0.848 AC: 35173 AN: 41490

American (AMR) AF: 0.685 AC: 10446 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.726 AC: 2521 AN: 3472

East Asian (EAS) AF: 0.520 AC: 2681 AN: 5152

South Asian (SAS) AF: 0.636 AC: 3069 AN: 4824

European-Finnish (FIN) AF: 0.633 AC: 6691 AN: 10568

Middle Eastern (MID) AF: 0.684 AC: 201 AN: 294

European-Non Finnish (NFE) AF: 0.701 AC: 47669 AN: 67980

Other (OTH) AF: 0.740 AC: 1565 AN: 2114

Alfa AF: 0.715 Hom.: 37742

Bravo AF: 0.736

Asia WGS AF: 0.587 AC: 2041 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	10
DANN	Benign	0.59
PhyloP100		0.38

Splicing

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

Other links and lift over

dbSNP: rs7151193; hg19: chr14-93611535;