rs9327207

Variant names:

• chr5-121633621-C-A
• rs9327207

Your query was ambiguous. Multiple possible variants found:

• chr5-121633621-C-A
• chr5-121633621-C-G
• chr5-121633621-C-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 0.849 in 151,926 control chromosomes in the GnomAD database, including 54,913 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 0.85 (54913 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0610
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.871 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: 0.850 AC: 128970 AN: 151808 Hom.: 54883 Cov.: 31

Gnomad AFR AF: 0.879

Gnomad AMI AF: 0.781

Gnomad AMR AF: 0.860

Gnomad ASJ AF: 0.888

Gnomad EAS AF: 0.806

Gnomad SAS AF: 0.859

Gnomad FIN AF: 0.797

Gnomad MID AF: 0.883

Gnomad NFE AF: 0.839

Gnomad OTH AF: 0.849

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

GnomAD4 genome AF: 0.849 AC: 129053 AN: 151926 Hom.: 54913 Cov.: 31 AF XY: 0.846 AC XY: 62834 AN XY: 74234

African (AFR) AF: 0.879 AC: 36470 AN: 41496

American (AMR) AF: 0.860 AC: 13082 AN: 15216

Ashkenazi Jewish (ASJ) AF: 0.888 AC: 3078 AN: 3466

East Asian (EAS) AF: 0.806 AC: 4134 AN: 5128

South Asian (SAS) AF: 0.859 AC: 4138 AN: 4818

European-Finnish (FIN) AF: 0.797 AC: 8418 AN: 10564

Middle Eastern (MID) AF: 0.874 AC: 257 AN: 294

European-Non Finnish (NFE) AF: 0.839 AC: 56981 AN: 67924

Other (OTH) AF: 0.846 AC: 1783 AN: 2108

Alfa AF: 0.846 Hom.: 214035

Bravo AF: 0.859

Asia WGS AF: 0.790 AC: 2747 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	2.3
DANN	Benign	0.41
PhyloP100		0.061

Splicing

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

Other links and lift over

dbSNP: rs9327207; hg19: chr5-120969316;