rs7955257

Positions:

• chr12-23332192-T-C

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 0.763 in 152,014 control chromosomes in the GnomAD database, including 45,141 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 0.76 (45141 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.65

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.933 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.763 AC: 115847 AN: 151896 Hom.: 45103 Cov.: 31

Gnomad AFR AF: 0.606

Gnomad AMI AF: 0.905

Gnomad AMR AF: 0.755

Gnomad ASJ AF: 0.947

Gnomad EAS AF: 0.956

Gnomad SAS AF: 0.919

Gnomad FIN AF: 0.820

Gnomad MID AF: 0.921

Gnomad NFE AF: 0.813

Gnomad OTH AF: 0.781

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

GnomAD4 genome AF: 0.763 AC: 115944 AN: 152014 Hom.: 45141 Cov.: 31 AF XY: 0.768 AC XY: 57084 AN XY: 74302

Gnomad4 AFR AF: 0.606

Gnomad4 AMR AF: 0.755

Gnomad4 ASJ AF: 0.947

Gnomad4 EAS AF: 0.956

Gnomad4 SAS AF: 0.919

Gnomad4 FIN AF: 0.820

Gnomad4 NFE AF: 0.813

Gnomad4 OTH AF: 0.784

Alfa AF: 0.776 Hom.: 8278

Bravo AF: 0.754

Asia WGS AF: 0.897 AC: 3119 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.11
DANN	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7955257; hg19: chr12-23485126;