rs12403821

Variant names:

• chr1-198323673-C-T
• rs12403821

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 0.17 in 152,030 control chromosomes in the GnomAD database, including 3,036 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 0.17 (3036 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00400
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.3 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: 0.170 AC: 25863 AN: 151912 Hom.: 3021 Cov.: 32

Gnomad AFR AF: 0.305

Gnomad AMI AF: 0.0362

Gnomad AMR AF: 0.241

Gnomad ASJ AF: 0.0752

Gnomad EAS AF: 0.0968

Gnomad SAS AF: 0.258

Gnomad FIN AF: 0.0851

Gnomad MID AF: 0.139

Gnomad NFE AF: 0.0917

Gnomad OTH AF: 0.173

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

GnomAD4 genome AF: 0.170 AC: 25917 AN: 152030 Hom.: 3036 Cov.: 32 AF XY: 0.172 AC XY: 12765 AN XY: 74318

African (AFR) AF: 0.305 AC: 12630 AN: 41434

American (AMR) AF: 0.242 AC: 3695 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.0752 AC: 261 AN: 3470

East Asian (EAS) AF: 0.0967 AC: 501 AN: 5182

South Asian (SAS) AF: 0.259 AC: 1248 AN: 4820

European-Finnish (FIN) AF: 0.0851 AC: 898 AN: 10558

Middle Eastern (MID) AF: 0.143 AC: 42 AN: 294

European-Non Finnish (NFE) AF: 0.0917 AC: 6237 AN: 67986

Other (OTH) AF: 0.177 AC: 372 AN: 2106

Alfa AF: 0.123 Hom.: 767

Bravo AF: 0.186

Asia WGS AF: 0.201 AC: 700 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.8
DANN	Benign	0.69
PhyloP100		0.0040

Splicing

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

Other links and lift over

dbSNP: rs12403821; hg19: chr1-198292803;