chr12-33150676-G-C

Variant names:

• chr12-33150676-G-C
• rs7972327

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 0.203 in 143,664 control chromosomes in the GnomAD database, including 7,224 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 0.20 (7224 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.74
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.852 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.203 AC: 29122 AN: 143538 Hom.: 7206 Cov.: 28

Gnomad AFR AF: 0.284

Gnomad AMI AF: 0.0875

Gnomad AMR AF: 0.290

Gnomad ASJ AF: 0.221

Gnomad EAS AF: 0.875

Gnomad SAS AF: 0.371

Gnomad FIN AF: 0.0806

Gnomad MID AF: 0.182

Gnomad NFE AF: 0.0895

Gnomad OTH AF: 0.191

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

GnomAD4 genome AF: 0.203 AC: 29185 AN: 143664 Hom.: 7224 Cov.: 28 AF XY: 0.212 AC XY: 14846 AN XY: 70020

African (AFR) AF: 0.284 AC: 11507 AN: 40478

American (AMR) AF: 0.291 AC: 4020 AN: 13828

Ashkenazi Jewish (ASJ) AF: 0.221 AC: 711 AN: 3222

East Asian (EAS) AF: 0.874 AC: 4288 AN: 4906

South Asian (SAS) AF: 0.371 AC: 1641 AN: 4426

European-Finnish (FIN) AF: 0.0806 AC: 808 AN: 10020

Middle Eastern (MID) AF: 0.168 AC: 45 AN: 268

European-Non Finnish (NFE) AF: 0.0895 AC: 5702 AN: 63716

Other (OTH) AF: 0.199 AC: 389 AN: 1954

Alfa AF: 0.148 Hom.: 564

Asia WGS AF: 0.592 AC: 1979 AN: 3354

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	6.4
DANN	Benign	0.23
PhyloP100		-1.7

Splicing

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

Other links and lift over

dbSNP: rs7972327; hg19: chr12-33303610;