rs7727306

Variant names:

• chr5-35237758-C-T
• rs7727306

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 0.317 in 152,058 control chromosomes in the GnomAD database, including 8,695 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 0.32 (8695 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0770
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.442 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: 0.317 AC: 48123 AN: 151940 Hom.: 8691 Cov.: 32

Gnomad AFR AF: 0.160

Gnomad AMI AF: 0.373

Gnomad AMR AF: 0.293

Gnomad ASJ AF: 0.390

Gnomad EAS AF: 0.0904

Gnomad SAS AF: 0.459

Gnomad FIN AF: 0.374

Gnomad MID AF: 0.421

Gnomad NFE AF: 0.410

Gnomad OTH AF: 0.340

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

GnomAD4 genome AF: 0.317 AC: 48128 AN: 152058 Hom.: 8695 Cov.: 32 AF XY: 0.318 AC XY: 23625 AN XY: 74328

African (AFR) AF: 0.160 AC: 6646 AN: 41494

American (AMR) AF: 0.292 AC: 4458 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.390 AC: 1352 AN: 3470

East Asian (EAS) AF: 0.0904 AC: 468 AN: 5176

South Asian (SAS) AF: 0.458 AC: 2210 AN: 4824

European-Finnish (FIN) AF: 0.374 AC: 3949 AN: 10568

Middle Eastern (MID) AF: 0.418 AC: 123 AN: 294

European-Non Finnish (NFE) AF: 0.410 AC: 27858 AN: 67934

Other (OTH) AF: 0.344 AC: 725 AN: 2110

Alfa AF: 0.383 Hom.: 7300

Bravo AF: 0.297

Asia WGS AF: 0.297 AC: 1030 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	1.9
DANN	Benign	0.33
PhyloP100		0.077

Splicing

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

Other links and lift over

dbSNP: rs7727306; hg19: chr5-35237860;