rs1435883

Variant names:

• chr2-81415381-A-G
• rs1435883

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 0.38 in 151,982 control chromosomes in the GnomAD database, including 12,675 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 0.38 (12675 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.691
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.602 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: 0.380 AC: 57673 AN: 151864 Hom.: 12631 Cov.: 32

Gnomad AFR AF: 0.607

Gnomad AMI AF: 0.496

Gnomad AMR AF: 0.249

Gnomad ASJ AF: 0.291

Gnomad EAS AF: 0.137

Gnomad SAS AF: 0.122

Gnomad FIN AF: 0.302

Gnomad MID AF: 0.253

Gnomad NFE AF: 0.325

Gnomad OTH AF: 0.316

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

GnomAD4 genome AF: 0.380 AC: 57768 AN: 151982 Hom.: 12675 Cov.: 32 AF XY: 0.369 AC XY: 27405 AN XY: 74298

African (AFR) AF: 0.608 AC: 25208 AN: 41466

American (AMR) AF: 0.248 AC: 3793 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.291 AC: 1008 AN: 3468

East Asian (EAS) AF: 0.137 AC: 708 AN: 5164

South Asian (SAS) AF: 0.123 AC: 593 AN: 4828

European-Finnish (FIN) AF: 0.302 AC: 3192 AN: 10584

Middle Eastern (MID) AF: 0.245 AC: 72 AN: 294

European-Non Finnish (NFE) AF: 0.325 AC: 22083 AN: 67898

Other (OTH) AF: 0.314 AC: 660 AN: 2104

Alfa AF: 0.337 Hom.: 39337

Bravo AF: 0.387

Asia WGS AF: 0.156 AC: 543 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.25
DANN	Benign	0.39
PhyloP100		-0.69

Splicing

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

Other links and lift over

dbSNP: rs1435883; hg19: chr2-81642505;