rs2353726

Variant names:

• chr14-95068532-C-T
• rs2353726

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 0.336 in 152,052 control chromosomes in the GnomAD database, including 9,643 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 0.34 (9643 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00300
• Publications: 3 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 = 0.42 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.336 AC: 51092 AN: 151934 Hom.: 9645 Cov.: 32

Gnomad AFR AF: 0.183

Gnomad AMI AF: 0.407

Gnomad AMR AF: 0.360

Gnomad ASJ AF: 0.439

Gnomad EAS AF: 0.0840

Gnomad SAS AF: 0.334

Gnomad FIN AF: 0.421

Gnomad MID AF: 0.386

Gnomad NFE AF: 0.424

Gnomad OTH AF: 0.348

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

GnomAD4 genome AF: 0.336 AC: 51094 AN: 152052 Hom.: 9643 Cov.: 32 AF XY: 0.333 AC XY: 24725 AN XY: 74346

African (AFR) AF: 0.183 AC: 7575 AN: 41456

American (AMR) AF: 0.359 AC: 5491 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.439 AC: 1523 AN: 3468

East Asian (EAS) AF: 0.0840 AC: 435 AN: 5178

South Asian (SAS) AF: 0.333 AC: 1607 AN: 4826

European-Finnish (FIN) AF: 0.421 AC: 4450 AN: 10564

Middle Eastern (MID) AF: 0.384 AC: 113 AN: 294

European-Non Finnish (NFE) AF: 0.424 AC: 28794 AN: 67974

Other (OTH) AF: 0.349 AC: 736 AN: 2108

Alfa AF: 0.396 Hom.: 31307

Bravo AF: 0.323

Asia WGS AF: 0.241 AC: 841 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	2.2
DANN	Benign	0.74
PhyloP100		0.0030

Splicing

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

Other links and lift over

dbSNP: rs2353726; hg19: chr14-95534869;