rs2505995

chr10-43074205-A-G

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 0.426 in 151,952 control chromosomes in the GnomAD database, including 13,989 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 0.43 (13989 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.26

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.474 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.426 AC: 64701 AN: 151832 Hom.: 13960 Cov.: 33

Gnomad AFR AF: 0.480

Gnomad AMI AF: 0.490

Gnomad AMR AF: 0.453

Gnomad ASJ AF: 0.339

Gnomad EAS AF: 0.318

Gnomad SAS AF: 0.417

Gnomad FIN AF: 0.370

Gnomad MID AF: 0.407

Gnomad NFE AF: 0.409

Gnomad OTH AF: 0.417

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

GnomAD4 genome AF: 0.426 AC: 64781 AN: 151952 Hom.: 13989 Cov.: 33 AF XY: 0.426 AC XY: 31609 AN XY: 74244

Gnomad4 AFR AF: 0.480

Gnomad4 AMR AF: 0.454

Gnomad4 ASJ AF: 0.339

Gnomad4 EAS AF: 0.318

Gnomad4 SAS AF: 0.417

Gnomad4 FIN AF: 0.370

Gnomad4 NFE AF: 0.409

Gnomad4 OTH AF: 0.418

Alfa AF: 0.418 Hom.: 3508

Bravo AF: 0.436

Asia WGS AF: 0.370 AC: 1285 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
Cadd	Benign	0.26
Dann	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2505995; hg19: chr10-43569653;