3-23183703-T-C

Position:

• chr3-23183703-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 0.126 in 152,144 control chromosomes in the GnomAD database, including 1,515 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 0.13 (1515 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.457

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.239 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: 0.126 AC: 19145 AN: 152026 Hom.: 1515 Cov.: 32

Gnomad AFR AF: 0.200

Gnomad AMI AF: 0.0669

Gnomad AMR AF: 0.0683

Gnomad ASJ AF: 0.0631

Gnomad EAS AF: 0.192

Gnomad SAS AF: 0.251

Gnomad FIN AF: 0.170

Gnomad MID AF: 0.101

Gnomad NFE AF: 0.0776

Gnomad OTH AF: 0.107

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

GnomAD4 genome AF: 0.126 AC: 19154 AN: 152144 Hom.: 1515 Cov.: 32 AF XY: 0.131 AC XY: 9714 AN XY: 74368

Gnomad4 AFR AF: 0.200

Gnomad4 AMR AF: 0.0683

Gnomad4 ASJ AF: 0.0631

Gnomad4 EAS AF: 0.192

Gnomad4 SAS AF: 0.250

Gnomad4 FIN AF: 0.170

Gnomad4 NFE AF: 0.0776

Gnomad4 OTH AF: 0.108

Alfa AF: 0.0978 Hom.: 138

Bravo AF: 0.118

Asia WGS AF: 0.242 AC: 841 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	2.9
DANN	Benign	0.81

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11927173; hg19: chr3-23225194;