rs1830206

Variant names:

• chr10-36956778-G-A
• rs1830206

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 0.593 in 151,988 control chromosomes in the GnomAD database, including 31,098 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 0.59 (31098 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.650

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.757 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: 0.593 AC: 90130 AN: 151870 Hom.: 31094 Cov.: 32

Gnomad AFR AF: 0.232

Gnomad AMI AF: 0.822

Gnomad AMR AF: 0.737

Gnomad ASJ AF: 0.692

Gnomad EAS AF: 0.369

Gnomad SAS AF: 0.544

Gnomad FIN AF: 0.782

Gnomad MID AF: 0.734

Gnomad NFE AF: 0.763

Gnomad OTH AF: 0.634

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

GnomAD4 genome AF: 0.593 AC: 90139 AN: 151988 Hom.: 31098 Cov.: 32 AF XY: 0.594 AC XY: 44110 AN XY: 74282

Gnomad4 AFR AF: 0.231

Gnomad4 AMR AF: 0.737

Gnomad4 ASJ AF: 0.692

Gnomad4 EAS AF: 0.368

Gnomad4 SAS AF: 0.545

Gnomad4 FIN AF: 0.782

Gnomad4 NFE AF: 0.763

Gnomad4 OTH AF: 0.633

Alfa AF: 0.731 Hom.: 82945

Bravo AF: 0.575

Asia WGS AF: 0.462 AC: 1604 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	0.34
DANN	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1830206; hg19: chr10-37245706;