rs176261

Variant names:

• chr14-28689334-G-A
• rs176261

Your query was ambiguous. Multiple possible variants found:

• chr14-28689334-G-A
• chr14-28689334-G-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 0.585 in 151,914 control chromosomes in the GnomAD database, including 26,423 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 0.59 (26423 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.249

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 (EAS) allele frequency at 95% confidence interval = 0.627 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: 0.586 AC: 88911 AN: 151796 Hom.: 26420 Cov.: 32

Gnomad AFR AF: 0.505

Gnomad AMI AF: 0.813

Gnomad AMR AF: 0.516

Gnomad ASJ AF: 0.534

Gnomad EAS AF: 0.644

Gnomad SAS AF: 0.535

Gnomad FIN AF: 0.695

Gnomad MID AF: 0.661

Gnomad NFE AF: 0.632

Gnomad OTH AF: 0.584

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

GnomAD4 genome AF: 0.585 AC: 88935 AN: 151914 Hom.: 26423 Cov.: 32 AF XY: 0.586 AC XY: 43503 AN XY: 74234

Gnomad4 AFR AF: 0.505

Gnomad4 AMR AF: 0.515

Gnomad4 ASJ AF: 0.534

Gnomad4 EAS AF: 0.644

Gnomad4 SAS AF: 0.535

Gnomad4 FIN AF: 0.695

Gnomad4 NFE AF: 0.632

Gnomad4 OTH AF: 0.581

Alfa AF: 0.605 Hom.: 5662

Bravo AF: 0.570

Asia WGS AF: 0.594 AC: 2064 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	1.6
DANN	Benign	0.20

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs176261; hg19: chr14-29158540;