14-35416080-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 0.696 in 152,126 control chromosomes in the GnomAD database, including 36,897 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 0.70 (36897 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.58

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.73).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.724 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: 0.696 AC: 105797 AN: 152008 Hom.: 36836 Cov.: 33

Gnomad AFR AF: 0.731

Gnomad AMI AF: 0.501

Gnomad AMR AF: 0.730

Gnomad ASJ AF: 0.702

Gnomad EAS AF: 0.728

Gnomad SAS AF: 0.728

Gnomad FIN AF: 0.726

Gnomad MID AF: 0.677

Gnomad NFE AF: 0.661

Gnomad OTH AF: 0.689

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

GnomAD4 genome AF: 0.696 AC: 105916 AN: 152126 Hom.: 36897 Cov.: 33 AF XY: 0.699 AC XY: 51961 AN XY: 74362

Gnomad4 AFR AF: 0.731

Gnomad4 AMR AF: 0.730

Gnomad4 ASJ AF: 0.702

Gnomad4 EAS AF: 0.728

Gnomad4 SAS AF: 0.728

Gnomad4 FIN AF: 0.726

Gnomad4 NFE AF: 0.661

Gnomad4 OTH AF: 0.691

Alfa AF: 0.685 Hom.: 6597

Bravo AF: 0.698

Asia WGS AF: 0.752 AC: 2613 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.73
Cadd	Benign	13
Dann	Benign	0.85

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8018407; hg19: chr14-35885286;