chr9-110637018-T-G

Variant names:

• chr9-110637018-T-G
• rs7048110

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 0.164 in 151,814 control chromosomes in the GnomAD database, including 2,119 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 0.16 (2119 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.20
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.173 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.164 AC: 24868 AN: 151696 Hom.: 2116 Cov.: 31

Gnomad AFR AF: 0.176

Gnomad AMI AF: 0.181

Gnomad AMR AF: 0.132

Gnomad ASJ AF: 0.157

Gnomad EAS AF: 0.0655

Gnomad SAS AF: 0.131

Gnomad FIN AF: 0.180

Gnomad MID AF: 0.0987

Gnomad NFE AF: 0.171

Gnomad OTH AF: 0.164

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

GnomAD4 genome AF: 0.164 AC: 24889 AN: 151814 Hom.: 2119 Cov.: 31 AF XY: 0.162 AC XY: 12052 AN XY: 74180

African (AFR) AF: 0.176 AC: 7299 AN: 41386

American (AMR) AF: 0.132 AC: 2009 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.157 AC: 545 AN: 3464

East Asian (EAS) AF: 0.0656 AC: 339 AN: 5166

South Asian (SAS) AF: 0.132 AC: 633 AN: 4808

European-Finnish (FIN) AF: 0.180 AC: 1897 AN: 10526

Middle Eastern (MID) AF: 0.0993 AC: 29 AN: 292

European-Non Finnish (NFE) AF: 0.171 AC: 11631 AN: 67912

Other (OTH) AF: 0.163 AC: 342 AN: 2102

Alfa AF: 0.0995 Hom.: 152

Bravo AF: 0.161

Asia WGS AF: 0.0980 AC: 343 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	6.4
DANN	Benign	0.70
PhyloP100		1.2

Splicing

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

Other links and lift over

dbSNP: rs7048110; hg19: chr9-113399298;