chr14-32168596-T-C

Position:

• chr14-32168596-T-C

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 0.774 in 152,006 control chromosomes in the GnomAD database, including 46,080 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 0.77 (46080 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.47

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.824 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: 0.774 AC: 117613 AN: 151888 Hom.: 46047 Cov.: 30

Gnomad AFR AF: 0.813

Gnomad AMI AF: 0.821

Gnomad AMR AF: 0.581

Gnomad ASJ AF: 0.808

Gnomad EAS AF: 0.846

Gnomad SAS AF: 0.817

Gnomad FIN AF: 0.783

Gnomad MID AF: 0.877

Gnomad NFE AF: 0.781

Gnomad OTH AF: 0.791

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

GnomAD4 genome AF: 0.774 AC: 117697 AN: 152006 Hom.: 46080 Cov.: 30 AF XY: 0.771 AC XY: 57211 AN XY: 74248

Gnomad4 AFR AF: 0.813

Gnomad4 AMR AF: 0.580

Gnomad4 ASJ AF: 0.808

Gnomad4 EAS AF: 0.845

Gnomad4 SAS AF: 0.817

Gnomad4 FIN AF: 0.783

Gnomad4 NFE AF: 0.781

Gnomad4 OTH AF: 0.792

Alfa AF: 0.749 Hom.: 7785

Bravo AF: 0.759

Asia WGS AF: 0.838 AC: 2913 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	3.9
DANN	Benign	0.79

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9332386; hg19: chr14-32637802;