7-155098438-G-C

Variant names:

• chr7-155098438-G-C
• rs1730182

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 0.675 in 151,802 control chromosomes in the GnomAD database, including 34,952 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 0.68 (34952 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.45
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.77 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.675 AC: 102432 AN: 151684 Hom.: 34918 Cov.: 29

Gnomad AFR AF: 0.777

Gnomad AMI AF: 0.559

Gnomad AMR AF: 0.662

Gnomad ASJ AF: 0.647

Gnomad EAS AF: 0.622

Gnomad SAS AF: 0.638

Gnomad FIN AF: 0.580

Gnomad MID AF: 0.649

Gnomad NFE AF: 0.641

Gnomad OTH AF: 0.670

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

GnomAD4 genome AF: 0.675 AC: 102510 AN: 151802 Hom.: 34952 Cov.: 29 AF XY: 0.673 AC XY: 49895 AN XY: 74168

African (AFR) AF: 0.777 AC: 32180 AN: 41396

American (AMR) AF: 0.662 AC: 10115 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.647 AC: 2244 AN: 3466

East Asian (EAS) AF: 0.623 AC: 3189 AN: 5122

South Asian (SAS) AF: 0.638 AC: 3062 AN: 4800

European-Finnish (FIN) AF: 0.580 AC: 6107 AN: 10534

Middle Eastern (MID) AF: 0.633 AC: 186 AN: 294

European-Non Finnish (NFE) AF: 0.641 AC: 43523 AN: 67904

Other (OTH) AF: 0.662 AC: 1396 AN: 2108

Alfa AF: 0.522 Hom.: 1363

Bravo AF: 0.685

Asia WGS AF: 0.597 AC: 2079 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.022
DANN	Benign	0.65
PhyloP100		-2.5

Splicing

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

Other links and lift over

dbSNP: rs1730182; hg19: chr7-154890148;