rs35262691

Variant names:

• chr14-94518729-T-C
• rs35262691

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.201 AC: 8340 AN: 41512

American (AMR) AF: 0.450 AC: 6882 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.453 AC: 1571 AN: 3470

East Asian (EAS) AF: 0.279 AC: 1445 AN: 5174

South Asian (SAS) AF: 0.469 AC: 2257 AN: 4816

European-Finnish (FIN) AF: 0.456 AC: 4827 AN: 10586

Middle Eastern (MID) AF: 0.357 AC: 105 AN: 294

European-Non Finnish (NFE) AF: 0.469 AC: 31893 AN: 67998

Other (OTH) AF: 0.394 AC: 830 AN: 2108

Alfa AF: 0.434 Hom.: 25728

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
PhyloP100		-0.51

Splicing

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

Other links and lift over

dbSNP: rs35262691; hg19: chr14-94985066;