rs35262691

Positions:

• chr14-94518729-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 0.384 in 152,158 control chromosomes in the GnomAD database, including 12,272 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 0.38 (12272 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.513

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.465 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: 0.385 AC: 58476 AN: 152038 Hom.: 12275 Cov.: 33

Gnomad AFR AF: 0.202

Gnomad AMI AF: 0.357

Gnomad AMR AF: 0.450

Gnomad ASJ AF: 0.453

Gnomad EAS AF: 0.279

Gnomad SAS AF: 0.467

Gnomad FIN AF: 0.456

Gnomad MID AF: 0.351

Gnomad NFE AF: 0.469

Gnomad OTH AF: 0.397

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

GnomAD4 genome AF: 0.384 AC: 58474 AN: 152158 Hom.: 12272 Cov.: 33 AF XY: 0.387 AC XY: 28754 AN XY: 74392

Gnomad4 AFR AF: 0.201

Gnomad4 AMR AF: 0.450

Gnomad4 ASJ AF: 0.453

Gnomad4 EAS AF: 0.279

Gnomad4 SAS AF: 0.469

Gnomad4 FIN AF: 0.456

Gnomad4 NFE AF: 0.469

Gnomad4 OTH AF: 0.394

Alfa AF: 0.440 Hom.: 3879

Bravo AF: 0.374

Asia WGS AF: 0.342 AC: 1191 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.63
DANN	Benign	0.82

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs35262691; hg19: chr14-94985066;