chr14-35413729-A-T

Position:

• chr14-35413729-A-T

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 0.624 in 152,084 control chromosomes in the GnomAD database, including 29,840 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 0.62 (29840 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.275

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.712 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: 0.624 AC: 94837 AN: 151966 Hom.: 29798 Cov.: 32

Gnomad AFR AF: 0.580

Gnomad AMI AF: 0.496

Gnomad AMR AF: 0.707

Gnomad ASJ AF: 0.603

Gnomad EAS AF: 0.731

Gnomad SAS AF: 0.717

Gnomad FIN AF: 0.664

Gnomad MID AF: 0.601

Gnomad NFE AF: 0.614

Gnomad OTH AF: 0.611

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

GnomAD4 genome AF: 0.624 AC: 94930 AN: 152084 Hom.: 29840 Cov.: 32 AF XY: 0.630 AC XY: 46819 AN XY: 74356

Gnomad4 AFR AF: 0.581

Gnomad4 AMR AF: 0.708

Gnomad4 ASJ AF: 0.603

Gnomad4 EAS AF: 0.732

Gnomad4 SAS AF: 0.718

Gnomad4 FIN AF: 0.664

Gnomad4 NFE AF: 0.614

Gnomad4 OTH AF: 0.615

Alfa AF: 0.621 Hom.: 3654

Bravo AF: 0.625

Asia WGS AF: 0.752 AC: 2615 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	1.8
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2007960; hg19: chr14-35882935;