chr7-44783925-C-A

Variant names:

• chr7-44783925-C-A
• rs7795288

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 0.343 in 151,996 control chromosomes in the GnomAD database, including 12,188 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 0.34 (12188 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.225
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.746 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: 0.343 AC: 52081 AN: 151876 Hom.: 12165 Cov.: 31

Gnomad AFR AF: 0.599

Gnomad AMI AF: 0.275

Gnomad AMR AF: 0.399

Gnomad ASJ AF: 0.193

Gnomad EAS AF: 0.766

Gnomad SAS AF: 0.402

Gnomad FIN AF: 0.138

Gnomad MID AF: 0.264

Gnomad NFE AF: 0.180

Gnomad OTH AF: 0.321

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

GnomAD4 genome AF: 0.343 AC: 52156 AN: 151996 Hom.: 12188 Cov.: 31 AF XY: 0.347 AC XY: 25797 AN XY: 74322

African (AFR) AF: 0.599 AC: 24800 AN: 41416

American (AMR) AF: 0.400 AC: 6094 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.193 AC: 669 AN: 3472

East Asian (EAS) AF: 0.766 AC: 3966 AN: 5178

South Asian (SAS) AF: 0.402 AC: 1935 AN: 4818

European-Finnish (FIN) AF: 0.138 AC: 1466 AN: 10594

Middle Eastern (MID) AF: 0.269 AC: 79 AN: 294

European-Non Finnish (NFE) AF: 0.180 AC: 12216 AN: 67948

Other (OTH) AF: 0.322 AC: 680 AN: 2114

Alfa AF: 0.169 Hom.: 6516

Bravo AF: 0.374

Asia WGS AF: 0.549 AC: 1910 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.4
DANN	Benign	0.62
PhyloP100		-0.23

Splicing

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

Other links and lift over

dbSNP: rs7795288; hg19: chr7-44823524;