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. The variant received -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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.0839 AC: 3464 AN: 41272

American (AMR) AF: 0.269 AC: 4090 AN: 15230

Ashkenazi Jewish (ASJ) AF: 0.150 AC: 520 AN: 3466

East Asian (EAS) AF: 0.254 AC: 1299 AN: 5112

South Asian (SAS) AF: 0.333 AC: 1597 AN: 4792

European-Finnish (FIN) AF: 0.140 AC: 1468 AN: 10496

Middle Eastern (MID) AF: 0.146 AC: 43 AN: 294

European-Non Finnish (NFE) AF: 0.125 AC: 8477 AN: 67874

Other (OTH) AF: 0.139 AC: 292 AN: 2106

Alfa AF: 0.133 Hom.: 181

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
PhyloP100		0.14

Splicing

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

Other links and lift over

dbSNP: rs712484; hg19: chr14-48550779;