rs7972327

Variant names:

• chr12-33150676-G-C
• rs7972327

Your query was ambiguous. Multiple possible variants found:

• chr12-33150676-G-C
• chr12-33150676-G-T

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 0.203 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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.203 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

Gnomad4 AFR AF: 0.284

Gnomad4 AMR AF: 0.291

Gnomad4 ASJ AF: 0.221

Gnomad4 EAS AF: 0.874

Gnomad4 SAS AF: 0.371

Gnomad4 FIN AF: 0.0806

Gnomad4 NFE AF: 0.0895

Gnomad4 OTH AF: 0.199

Alfa AF: 0.148 Hom.: 564

Asia WGS AF: 0.592 AC: 1979 AN: 3354

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7972327; hg19: chr12-33303610;