3-195744621-C-G

Variant names:

• chr3-195744621-C-G
• rs7633103

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong

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 0.36 (34 hom., cov: 48)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.392
• Publications: 0 publications found

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).

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: 0.362 AC: 54294 AN: 149812 Hom.: 33 Cov.: 48

Gnomad AFR AF: 0.344

Gnomad AMI AF: 0.331

Gnomad AMR AF: 0.413

Gnomad ASJ AF: 0.365

Gnomad EAS AF: 0.445

Gnomad SAS AF: 0.381

Gnomad FIN AF: 0.362

Gnomad MID AF: 0.411

Gnomad NFE AF: 0.354

Gnomad OTH AF: 0.380

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

GnomAD4 genome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.363 AC: 54351 AN: 149930 Hom.: 34 Cov.: 48 AF XY: 0.364 AC XY: 26621 AN XY: 73182

African (AFR) AF: 0.344 AC: 13950 AN: 40562

American (AMR) AF: 0.413 AC: 6221 AN: 15068

Ashkenazi Jewish (ASJ) AF: 0.365 AC: 1254 AN: 3440

East Asian (EAS) AF: 0.446 AC: 2286 AN: 5128

South Asian (SAS) AF: 0.382 AC: 1811 AN: 4744

European-Finnish (FIN) AF: 0.362 AC: 3767 AN: 10396

Middle Eastern (MID) AF: 0.414 AC: 121 AN: 292

European-Non Finnish (NFE) AF: 0.354 AC: 23848 AN: 67314

Other (OTH) AF: 0.381 AC: 796 AN: 2090

Alfa AF: 0.155 Hom.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.88
DANN	Benign	0.39
PhyloP100		-0.39

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs7633103;

hg19: chr3-195471492;