1-207866126-G-C

Position:

• chr1-207866126-G-C

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 0.189 in 152,006 control chromosomes in the GnomAD database, including 3,013 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 0.19 (3013 hom., cov: 31)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.150

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.236 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.207866126G>C		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
MIR29B2CHG	ENST00000608023.6	n.221+1800C>G		intron_variant		5
MIR29B2CHG	ENST00000637970.1	n.589+1800C>G		intron_variant		5
MIR29B2CHG	ENST00000710901.1	n.241+1800C>G		intron_variant

Frequencies

GnomAD3 genomes AF: 0.189 AC: 28704 AN: 151888 Hom.: 3007 Cov.: 31

Gnomad AFR AF: 0.126

Gnomad AMI AF: 0.101

Gnomad AMR AF: 0.242

Gnomad ASJ AF: 0.174

Gnomad EAS AF: 0.00464

Gnomad SAS AF: 0.142

Gnomad FIN AF: 0.218

Gnomad MID AF: 0.180

Gnomad NFE AF: 0.231

Gnomad OTH AF: 0.171

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

GnomAD4 genome AF: 0.189 AC: 28715 AN: 152006 Hom.: 3013 Cov.: 31 AF XY: 0.188 AC XY: 13953 AN XY: 74302

Gnomad4 AFR AF: 0.125

Gnomad4 AMR AF: 0.242

Gnomad4 ASJ AF: 0.174

Gnomad4 EAS AF: 0.00446

Gnomad4 SAS AF: 0.142

Gnomad4 FIN AF: 0.218

Gnomad4 NFE AF: 0.231

Gnomad4 OTH AF: 0.168

Alfa AF: 0.207 Hom.: 404

Bravo AF: 0.190

Asia WGS AF: 0.0810 AC: 282 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	3.6
DANN	Benign	0.60

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1967689; hg19: chr1-208039471;