4-32296333-C-T

Variant names:

• chr4-32296333-C-T
• rs7655505

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

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 0.43 (4378 hom., cov: 14)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.41
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.05).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.486 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: 0.425 AC: 33747 AN: 79340 Hom.: 4379 Cov.: 14

Gnomad AFR AF: 0.319

Gnomad AMI AF: 0.426

Gnomad AMR AF: 0.494

Gnomad ASJ AF: 0.437

Gnomad EAS AF: 0.462

Gnomad SAS AF: 0.509

Gnomad FIN AF: 0.346

Gnomad MID AF: 0.444

Gnomad NFE AF: 0.465

Gnomad OTH AF: 0.409

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

GnomAD4 genome AF: 0.425 AC: 33744 AN: 79338 Hom.: 4378 Cov.: 14 AF XY: 0.420 AC XY: 16148 AN XY: 38416

African (AFR) AF: 0.319 AC: 6124 AN: 19204

American (AMR) AF: 0.494 AC: 4233 AN: 8572

Ashkenazi Jewish (ASJ) AF: 0.437 AC: 858 AN: 1964

East Asian (EAS) AF: 0.462 AC: 980 AN: 2122

South Asian (SAS) AF: 0.509 AC: 1300 AN: 2554

European-Finnish (FIN) AF: 0.346 AC: 1628 AN: 4708

Middle Eastern (MID) AF: 0.438 AC: 78 AN: 178

European-Non Finnish (NFE) AF: 0.465 AC: 17865 AN: 38394

Other (OTH) AF: 0.407 AC: 449 AN: 1104

Alfa AF: 0.00 Hom.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.88
DANN	Benign	0.30
PhyloP100		-1.4

Splicing

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

Other links and lift over

dbSNP: rs7655505; hg19: chr4-32297955;