rs4845624

Variant names:

• chr1-151855337-G-A
• rs4845624

Your query was ambiguous. Multiple possible variants found:

• chr1-151855337-G-A
• chr1-151855337-G-C

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 0.529 in 152,048 control chromosomes in the GnomAD database, including 25,628 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 0.53 (25628 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.430

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.687 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: 0.529 AC: 80390 AN: 151932 Hom.: 25627 Cov.: 32

Gnomad AFR AF: 0.167

Gnomad AMI AF: 0.559

Gnomad AMR AF: 0.609

Gnomad ASJ AF: 0.446

Gnomad EAS AF: 0.613

Gnomad SAS AF: 0.402

Gnomad FIN AF: 0.819

Gnomad MID AF: 0.455

Gnomad NFE AF: 0.692

Gnomad OTH AF: 0.542

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

GnomAD4 genome AF: 0.529 AC: 80403 AN: 152048 Hom.: 25628 Cov.: 32 AF XY: 0.534 AC XY: 39668 AN XY: 74354

Gnomad4 AFR AF: 0.167

Gnomad4 AMR AF: 0.609

Gnomad4 ASJ AF: 0.446

Gnomad4 EAS AF: 0.613

Gnomad4 SAS AF: 0.403

Gnomad4 FIN AF: 0.819

Gnomad4 NFE AF: 0.692

Gnomad4 OTH AF: 0.541

Alfa AF: 0.634 Hom.: 41074

Bravo AF: 0.500

Asia WGS AF: 0.479 AC: 1667 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	4.5
DANN	Benign	0.69

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4845624; hg19: chr1-151827813;