rs2436893

Variant names:

• chr8-102562435-G-A
• rs2436893

Your query was ambiguous. Multiple possible variants found:

• chr8-102562435-G-A
• chr8-102562435-G-C
• chr8-102562435-G-T

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 0.483 in 151,904 control chromosomes in the GnomAD database, including 18,254 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 0.48 (18254 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0520

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.538 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: 0.483 AC: 73376 AN: 151786 Hom.: 18241 Cov.: 31

Gnomad AFR AF: 0.409

Gnomad AMI AF: 0.557

Gnomad AMR AF: 0.475

Gnomad ASJ AF: 0.608

Gnomad EAS AF: 0.221

Gnomad SAS AF: 0.381

Gnomad FIN AF: 0.526

Gnomad MID AF: 0.614

Gnomad NFE AF: 0.543

Gnomad OTH AF: 0.509

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

GnomAD4 genome AF: 0.483 AC: 73439 AN: 151904 Hom.: 18254 Cov.: 31 AF XY: 0.480 AC XY: 35656 AN XY: 74252

Gnomad4 AFR AF: 0.408

Gnomad4 AMR AF: 0.476

Gnomad4 ASJ AF: 0.608

Gnomad4 EAS AF: 0.221

Gnomad4 SAS AF: 0.382

Gnomad4 FIN AF: 0.526

Gnomad4 NFE AF: 0.543

Gnomad4 OTH AF: 0.512

Alfa AF: 0.534 Hom.: 29155

Bravo AF: 0.474

Asia WGS AF: 0.353 AC: 1228 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	6.5
DANN	Benign	0.68

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2436893; hg19: chr8-103574663;