rs12347205

Variant names:

• chr9-90146721-G-A
• rs12347205

Your query was ambiguous. Multiple possible variants found:

• chr9-90146721-G-A
• chr9-90146721-G-C
• chr9-90146721-G-T

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 0.48 in 151,968 control chromosomes in the GnomAD database, including 19,447 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 0.48 (19447 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.219
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.54).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.728 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: 0.480 AC: 72917 AN: 151850 Hom.: 19404 Cov.: 32

Gnomad AFR AF: 0.734

Gnomad AMI AF: 0.221

Gnomad AMR AF: 0.390

Gnomad ASJ AF: 0.352

Gnomad EAS AF: 0.453

Gnomad SAS AF: 0.479

Gnomad FIN AF: 0.357

Gnomad MID AF: 0.446

Gnomad NFE AF: 0.378

Gnomad OTH AF: 0.446

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

GnomAD4 genome AF: 0.480 AC: 73012 AN: 151968 Hom.: 19447 Cov.: 32 AF XY: 0.476 AC XY: 35359 AN XY: 74282

African (AFR) AF: 0.735 AC: 30476 AN: 41484

American (AMR) AF: 0.390 AC: 5952 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.352 AC: 1222 AN: 3472

East Asian (EAS) AF: 0.453 AC: 2341 AN: 5170

South Asian (SAS) AF: 0.479 AC: 2307 AN: 4814

European-Finnish (FIN) AF: 0.357 AC: 3757 AN: 10518

Middle Eastern (MID) AF: 0.439 AC: 129 AN: 294

European-Non Finnish (NFE) AF: 0.378 AC: 25675 AN: 67926

Other (OTH) AF: 0.450 AC: 951 AN: 2114

Alfa AF: 0.404 Hom.: 6708

Bravo AF: 0.493

Asia WGS AF: 0.529 AC: 1840 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.54
CADD	Benign	13
DANN	Benign	0.91
PhyloP100		0.22

Splicing

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

Other links and lift over

dbSNP: rs12347205; hg19: chr9-92909003;