14-84393362-C-T

Variant names:

• chr14-84393362-C-T
• rs4411445

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 0.0464 in 152,034 control chromosomes in the GnomAD database, including 215 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 0.046 (215 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.574
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0555 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: 0.0465 AC: 7061 AN: 151916 Hom.: 215 Cov.: 32

Gnomad AFR AF: 0.0291

Gnomad AMI AF: 0.249

Gnomad AMR AF: 0.0369

Gnomad ASJ AF: 0.0346

Gnomad EAS AF: 0.00348

Gnomad SAS AF: 0.0239

Gnomad FIN AF: 0.0740

Gnomad MID AF: 0.120

Gnomad NFE AF: 0.0570

Gnomad OTH AF: 0.0599

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

GnomAD4 genome AF: 0.0464 AC: 7059 AN: 152034 Hom.: 215 Cov.: 32 AF XY: 0.0463 AC XY: 3437 AN XY: 74300

African (AFR) AF: 0.0290 AC: 1203 AN: 41490

American (AMR) AF: 0.0368 AC: 562 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.0346 AC: 120 AN: 3466

East Asian (EAS) AF: 0.00349 AC: 18 AN: 5160

South Asian (SAS) AF: 0.0241 AC: 116 AN: 4814

European-Finnish (FIN) AF: 0.0740 AC: 780 AN: 10546

Middle Eastern (MID) AF: 0.122 AC: 36 AN: 294

European-Non Finnish (NFE) AF: 0.0570 AC: 3873 AN: 67988

Other (OTH) AF: 0.0588 AC: 124 AN: 2110

Alfa AF: 0.0493 Hom.: 331

Bravo AF: 0.0433

Asia WGS AF: 0.0190 AC: 66 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.41
DANN	Benign	0.55
PhyloP100		-0.57

Splicing

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

Other links and lift over

dbSNP: rs4411445; hg19: chr14-84859706;