rs1258000

Variant names:

• chr1-46628595-C-T
• rs1258000

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 0.709 in 152,114 control chromosomes in the GnomAD database, including 38,421 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 0.71 (38421 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.182
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.754 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: 0.709 AC: 107753 AN: 151996 Hom.: 38413 Cov.: 32

Gnomad AFR AF: 0.762

Gnomad AMI AF: 0.736

Gnomad AMR AF: 0.599

Gnomad ASJ AF: 0.633

Gnomad EAS AF: 0.615

Gnomad SAS AF: 0.721

Gnomad FIN AF: 0.727

Gnomad MID AF: 0.674

Gnomad NFE AF: 0.710

Gnomad OTH AF: 0.677

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

GnomAD4 genome AF: 0.709 AC: 107797 AN: 152114 Hom.: 38421 Cov.: 32 AF XY: 0.706 AC XY: 52488 AN XY: 74342

African (AFR) AF: 0.761 AC: 31591 AN: 41496

American (AMR) AF: 0.598 AC: 9130 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.633 AC: 2197 AN: 3472

East Asian (EAS) AF: 0.615 AC: 3178 AN: 5166

South Asian (SAS) AF: 0.720 AC: 3468 AN: 4816

European-Finnish (FIN) AF: 0.727 AC: 7699 AN: 10584

Middle Eastern (MID) AF: 0.677 AC: 199 AN: 294

European-Non Finnish (NFE) AF: 0.709 AC: 48236 AN: 67990

Other (OTH) AF: 0.676 AC: 1429 AN: 2114

Alfa AF: 0.710 Hom.: 19543

Bravo AF: 0.700

Asia WGS AF: 0.684 AC: 2378 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	7.7
DANN	Benign	0.60
PhyloP100		-0.18

Splicing

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

Other links and lift over

dbSNP: rs1258000; hg19: chr1-47094267; COSMIC: COSV64244040;