chr14-74621282-C-A

Position:

• chr14-74621282-C-A

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 0.0797 in 152,204 control chromosomes in the GnomAD database, including 814 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 0.080 (814 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0190

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.167 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: 0.0796 AC: 12109 AN: 152086 Hom.: 811 Cov.: 33

Gnomad AFR AF: 0.171

Gnomad AMI AF: 0.0406

Gnomad AMR AF: 0.124

Gnomad ASJ AF: 0.0700

Gnomad EAS AF: 0.0869

Gnomad SAS AF: 0.0572

Gnomad FIN AF: 0.0200

Gnomad MID AF: 0.104

Gnomad NFE AF: 0.0255

Gnomad OTH AF: 0.0779

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

GnomAD4 genome AF: 0.0797 AC: 12129 AN: 152204 Hom.: 814 Cov.: 33 AF XY: 0.0811 AC XY: 6036 AN XY: 74430

Gnomad4 AFR AF: 0.171

Gnomad4 AMR AF: 0.124

Gnomad4 ASJ AF: 0.0700

Gnomad4 EAS AF: 0.0869

Gnomad4 SAS AF: 0.0572

Gnomad4 FIN AF: 0.0200

Gnomad4 NFE AF: 0.0255

Gnomad4 OTH AF: 0.0776

Alfa AF: 0.0448 Hom.: 59

Bravo AF: 0.0896

Asia WGS AF: 0.0710 AC: 245 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	3.5
DANN	Benign	0.66

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17101452; hg19: chr14-75087985;