rs712484

Variant names:

• chr14-48081576-C-A
• rs712484

Your query was ambiguous. Multiple possible variants found:

• chr14-48081576-C-A
• chr14-48081576-C-G

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 0.14 in 151,554 control chromosomes in the GnomAD database, including 1,956 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 0.14 (1956 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.145

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.32 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: 0.140 AC: 21262 AN: 151432 Hom.: 1949 Cov.: 29

Gnomad AFR AF: 0.0839

Gnomad AMI AF: 0.0351

Gnomad AMR AF: 0.268

Gnomad ASJ AF: 0.150

Gnomad EAS AF: 0.254

Gnomad SAS AF: 0.333

Gnomad FIN AF: 0.140

Gnomad MID AF: 0.150

Gnomad NFE AF: 0.125

Gnomad OTH AF: 0.140

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

GnomAD4 genome AF: 0.140 AC: 21282 AN: 151554 Hom.: 1956 Cov.: 29 AF XY: 0.146 AC XY: 10814 AN XY: 74004

Gnomad4 AFR AF: 0.0839

Gnomad4 AMR AF: 0.269

Gnomad4 ASJ AF: 0.150

Gnomad4 EAS AF: 0.254

Gnomad4 SAS AF: 0.333

Gnomad4 FIN AF: 0.140

Gnomad4 NFE AF: 0.125

Gnomad4 OTH AF: 0.139

Alfa AF: 0.136 Hom.: 178

Bravo AF: 0.145

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	5.1
DANN	Benign	0.82

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs712484; hg19: chr14-48550779;