rs36485

Variant names:

• chr19-51449486-T-C
• rs36485

Your query was ambiguous. Multiple possible variants found:

• chr19-51449486-T-C
• chr19-51449486-T-G

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 0.386 in 152,090 control chromosomes in the GnomAD database, including 14,071 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 0.39 (14071 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.469
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.663 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: 0.385 AC: 58553 AN: 151972 Hom.: 14030 Cov.: 32

Gnomad AFR AF: 0.669

Gnomad AMI AF: 0.265

Gnomad AMR AF: 0.267

Gnomad ASJ AF: 0.193

Gnomad EAS AF: 0.554

Gnomad SAS AF: 0.297

Gnomad FIN AF: 0.335

Gnomad MID AF: 0.320

Gnomad NFE AF: 0.254

Gnomad OTH AF: 0.350

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

GnomAD4 genome AF: 0.386 AC: 58644 AN: 152090 Hom.: 14071 Cov.: 32 AF XY: 0.386 AC XY: 28709 AN XY: 74362

African (AFR) AF: 0.669 AC: 27741 AN: 41454

American (AMR) AF: 0.266 AC: 4069 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.193 AC: 671 AN: 3472

East Asian (EAS) AF: 0.555 AC: 2867 AN: 5164

South Asian (SAS) AF: 0.297 AC: 1431 AN: 4816

European-Finnish (FIN) AF: 0.335 AC: 3546 AN: 10590

Middle Eastern (MID) AF: 0.310 AC: 91 AN: 294

European-Non Finnish (NFE) AF: 0.254 AC: 17245 AN: 67996

Other (OTH) AF: 0.352 AC: 742 AN: 2106

Alfa AF: 0.296 Hom.: 3693

Bravo AF: 0.393

Asia WGS AF: 0.456 AC: 1589 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.1
DANN	Benign	0.66
PhyloP100		-0.47

Splicing

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

Other links and lift over

dbSNP: rs36485; hg19: chr19-51952740;