rs1354470

Variant names:

• chr12-60408140-T-C
• rs1354470

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 0.589 in 152,044 control chromosomes in the GnomAD database, including 28,608 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 0.59 (28608 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.551
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.844 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: 0.589 AC: 89439 AN: 151926 Hom.: 28551 Cov.: 33

Gnomad AFR AF: 0.851

Gnomad AMI AF: 0.508

Gnomad AMR AF: 0.534

Gnomad ASJ AF: 0.568

Gnomad EAS AF: 0.457

Gnomad SAS AF: 0.594

Gnomad FIN AF: 0.445

Gnomad MID AF: 0.573

Gnomad NFE AF: 0.476

Gnomad OTH AF: 0.564

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

GnomAD4 genome AF: 0.589 AC: 89555 AN: 152044 Hom.: 28608 Cov.: 33 AF XY: 0.585 AC XY: 43492 AN XY: 74318

African (AFR) AF: 0.851 AC: 35336 AN: 41522

American (AMR) AF: 0.534 AC: 8155 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.568 AC: 1967 AN: 3460

East Asian (EAS) AF: 0.457 AC: 2364 AN: 5170

South Asian (SAS) AF: 0.595 AC: 2868 AN: 4824

European-Finnish (FIN) AF: 0.445 AC: 4691 AN: 10540

Middle Eastern (MID) AF: 0.568 AC: 167 AN: 294

European-Non Finnish (NFE) AF: 0.476 AC: 32356 AN: 67946

Other (OTH) AF: 0.564 AC: 1189 AN: 2110

Alfa AF: 0.542 Hom.: 4158

Bravo AF: 0.608

Asia WGS AF: 0.496 AC: 1728 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	3.1
DANN	Benign	0.49
PhyloP100		0.55

Splicing

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

Other links and lift over

dbSNP: rs1354470; hg19: chr12-60801921;