19-51450040-C-T

Variant names:

• chr19-51450040-C-T
• rs36487

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 0.178 in 152,088 control chromosomes in the GnomAD database, including 2,811 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 0.18 (2811 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.421
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.426 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: 0.178 AC: 27053 AN: 151970 Hom.: 2811 Cov.: 32

Gnomad AFR AF: 0.122

Gnomad AMI AF: 0.205

Gnomad AMR AF: 0.145

Gnomad ASJ AF: 0.139

Gnomad EAS AF: 0.441

Gnomad SAS AF: 0.224

Gnomad FIN AF: 0.211

Gnomad MID AF: 0.180

Gnomad NFE AF: 0.193

Gnomad OTH AF: 0.167

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

GnomAD4 genome AF: 0.178 AC: 27049 AN: 152088 Hom.: 2811 Cov.: 32 AF XY: 0.180 AC XY: 13389 AN XY: 74356

African (AFR) AF: 0.122 AC: 5067 AN: 41490

American (AMR) AF: 0.145 AC: 2210 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.139 AC: 484 AN: 3472

East Asian (EAS) AF: 0.441 AC: 2278 AN: 5164

South Asian (SAS) AF: 0.225 AC: 1084 AN: 4818

European-Finnish (FIN) AF: 0.211 AC: 2236 AN: 10586

Middle Eastern (MID) AF: 0.177 AC: 52 AN: 294

European-Non Finnish (NFE) AF: 0.193 AC: 13104 AN: 67960

Other (OTH) AF: 0.165 AC: 348 AN: 2112

Alfa AF: 0.145 Hom.: 422

Bravo AF: 0.171

Asia WGS AF: 0.280 AC: 974 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	3.7
DANN	Benign	0.45
PhyloP100		0.42

Splicing

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

Other links and lift over

dbSNP: rs36487; hg19: chr19-51953294;