14-35416080-T-C

Variant names:

• chr14-35416080-T-C
• rs8018407

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;