7-134440304-G-C

Variant names:

• chr7-134440304-G-C
• rs1791001

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 0.187 in 152,152 control chromosomes in the GnomAD database, including 2,733 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 (2733 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.831
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.218 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: 0.187 AC: 28383 AN: 152034 Hom.: 2725 Cov.: 33

Gnomad AFR AF: 0.222

Gnomad AMI AF: 0.204

Gnomad AMR AF: 0.200

Gnomad ASJ AF: 0.145

Gnomad EAS AF: 0.213

Gnomad SAS AF: 0.192

Gnomad FIN AF: 0.183

Gnomad MID AF: 0.136

Gnomad NFE AF: 0.163

Gnomad OTH AF: 0.176

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

GnomAD4 genome AF: 0.187 AC: 28427 AN: 152152 Hom.: 2733 Cov.: 33 AF XY: 0.188 AC XY: 13978 AN XY: 74366

African (AFR) AF: 0.222 AC: 9213 AN: 41506

American (AMR) AF: 0.200 AC: 3057 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.145 AC: 502 AN: 3470

East Asian (EAS) AF: 0.213 AC: 1096 AN: 5154

South Asian (SAS) AF: 0.194 AC: 934 AN: 4826

European-Finnish (FIN) AF: 0.183 AC: 1937 AN: 10596

Middle Eastern (MID) AF: 0.146 AC: 43 AN: 294

European-Non Finnish (NFE) AF: 0.163 AC: 11085 AN: 67994

Other (OTH) AF: 0.177 AC: 374 AN: 2112

Alfa AF: 0.0901 Hom.: 124

Bravo AF: 0.190

Asia WGS AF: 0.229 AC: 797 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.090
DANN	Benign	0.41
PhyloP100		-0.83

Splicing

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

Other links and lift over

dbSNP: rs1791001; hg19: chr7-134125056;