chr14-35384182-G-A

Variant names:

• chr14-35384182-G-A
• rs1951276

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 0.222 in 151,932 control chromosomes in the GnomAD database, including 4,161 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 0.22 (4161 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0570
• Publications: 10 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.521 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: 0.222 AC: 33643 AN: 151814 Hom.: 4152 Cov.: 32

Gnomad AFR AF: 0.262

Gnomad AMI AF: 0.232

Gnomad AMR AF: 0.218

Gnomad ASJ AF: 0.154

Gnomad EAS AF: 0.537

Gnomad SAS AF: 0.261

Gnomad FIN AF: 0.221

Gnomad MID AF: 0.187

Gnomad NFE AF: 0.174

Gnomad OTH AF: 0.223

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

GnomAD4 genome AF: 0.222 AC: 33681 AN: 151932 Hom.: 4161 Cov.: 32 AF XY: 0.227 AC XY: 16833 AN XY: 74278

African (AFR) AF: 0.263 AC: 10891 AN: 41436

American (AMR) AF: 0.217 AC: 3321 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.154 AC: 536 AN: 3472

East Asian (EAS) AF: 0.537 AC: 2765 AN: 5146

South Asian (SAS) AF: 0.260 AC: 1257 AN: 4828

European-Finnish (FIN) AF: 0.221 AC: 2330 AN: 10556

Middle Eastern (MID) AF: 0.184 AC: 54 AN: 294

European-Non Finnish (NFE) AF: 0.174 AC: 11847 AN: 67914

Other (OTH) AF: 0.223 AC: 469 AN: 2106

Alfa AF: 0.190 Hom.: 9707

Bravo AF: 0.225

Asia WGS AF: 0.393 AC: 1366 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	1.3
DANN	Benign	0.32
PhyloP100		0.057

Splicing

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

Other links and lift over

dbSNP: rs1951276; hg19: chr14-35853388;