rs4605275

Variant names:

• chr19-44835236-T-C
• rs4605275

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 0.686 in 151,650 control chromosomes in the GnomAD database, including 35,923 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 0.69 (35923 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.501

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.765 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: 0.686 AC: 103897 AN: 151538 Hom.: 35888 Cov.: 32

Gnomad AFR AF: 0.652

Gnomad AMI AF: 0.714

Gnomad AMR AF: 0.777

Gnomad ASJ AF: 0.688

Gnomad EAS AF: 0.384

Gnomad SAS AF: 0.626

Gnomad FIN AF: 0.748

Gnomad MID AF: 0.739

Gnomad NFE AF: 0.702

Gnomad OTH AF: 0.694

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

GnomAD4 genome AF: 0.686 AC: 103974 AN: 151650 Hom.: 35923 Cov.: 32 AF XY: 0.688 AC XY: 50964 AN XY: 74074

Gnomad4 AFR AF: 0.652

Gnomad4 AMR AF: 0.777

Gnomad4 ASJ AF: 0.688

Gnomad4 EAS AF: 0.385

Gnomad4 SAS AF: 0.627

Gnomad4 FIN AF: 0.748

Gnomad4 NFE AF: 0.702

Gnomad4 OTH AF: 0.688

Alfa AF: 0.696 Hom.: 4563

Bravo AF: 0.687

Asia WGS AF: 0.529 AC: 1843 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	1.3
DANN	Benign	0.18

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4605275; hg19: chr19-45338493;