10-36818338-G-C

Variant names:

• chr10-36818338-G-C
• rs2695081

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 0.133 in 152,238 control chromosomes in the GnomAD database, including 1,551 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 0.13 (1551 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.02
• Publications: 1 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 (AMR) allele frequency at 95% confidence interval = 0.193 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.133 AC: 20283 AN: 152120 Hom.: 1550 Cov.: 33

Gnomad AFR AF: 0.0875

Gnomad AMI AF: 0.231

Gnomad AMR AF: 0.199

Gnomad ASJ AF: 0.144

Gnomad EAS AF: 0.0854

Gnomad SAS AF: 0.0799

Gnomad FIN AF: 0.101

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.157

Gnomad OTH AF: 0.155

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

GnomAD4 genome AF: 0.133 AC: 20294 AN: 152238 Hom.: 1551 Cov.: 33 AF XY: 0.132 AC XY: 9846 AN XY: 74428

African (AFR) AF: 0.0874 AC: 3635 AN: 41572

American (AMR) AF: 0.199 AC: 3036 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.144 AC: 499 AN: 3468

East Asian (EAS) AF: 0.0852 AC: 440 AN: 5166

South Asian (SAS) AF: 0.0812 AC: 392 AN: 4830

European-Finnish (FIN) AF: 0.101 AC: 1072 AN: 10602

Middle Eastern (MID) AF: 0.112 AC: 33 AN: 294

European-Non Finnish (NFE) AF: 0.157 AC: 10653 AN: 67998

Other (OTH) AF: 0.154 AC: 324 AN: 2110

Alfa AF: 0.0455 Hom.: 62

Bravo AF: 0.141

Asia WGS AF: 0.0710 AC: 248 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.45
DANN	Benign	0.51
PhyloP100		-1.0

Splicing

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

Other links and lift over

dbSNP: rs2695081; hg19: chr10-37107266;