rs708494

Variant names:

• chr14-52300623-G-A
• rs708494

Your query was ambiguous. Multiple possible variants found:

• chr14-52300623-G-A
• chr14-52300623-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 0.473 in 151,918 control chromosomes in the GnomAD database, including 20,140 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as risk factor (no stars).

• Frequency: Genomes: 𝑓 0.47 (20140 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: risk factor no assertion criteria provided O:1
• Conservation: PhyloP100: 0.164

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.646 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: 0.473 AC: 71834 AN: 151800 Hom.: 20152 Cov.: 31

Gnomad AFR AF: 0.197

Gnomad AMI AF: 0.558

Gnomad AMR AF: 0.443

Gnomad ASJ AF: 0.611

Gnomad EAS AF: 0.247

Gnomad SAS AF: 0.308

Gnomad FIN AF: 0.571

Gnomad MID AF: 0.548

Gnomad NFE AF: 0.652

Gnomad OTH AF: 0.518

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

GnomAD4 genome AF: 0.473 AC: 71805 AN: 151918 Hom.: 20140 Cov.: 31 AF XY: 0.464 AC XY: 34444 AN XY: 74236

Gnomad4 AFR AF: 0.197

Gnomad4 AMR AF: 0.442

Gnomad4 ASJ AF: 0.611

Gnomad4 EAS AF: 0.247

Gnomad4 SAS AF: 0.307

Gnomad4 FIN AF: 0.571

Gnomad4 NFE AF: 0.652

Gnomad4 OTH AF: 0.515

Alfa AF: 0.590 Hom.: 6974

Bravo AF: 0.454

Asia WGS AF: 0.278 AC: 968 AN: 3478

ClinVar

Significance: risk factor

Submissions summary: Other:1

Revision: no assertion criteria provided

Submissions by phenotype

Asthma, aspirin-induced, susceptibility to Other:1

Dec 15, 2004

OMIM

Significance: risk factor

Review Status: no assertion criteria provided

Collection Method: literature only

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Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	4.6
DANN	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs708494; hg19: chr14-52767341;