rs7735145

Variant names:

• chr5-117312029-A-G
• rs7735145

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 0.127 in 151,932 control chromosomes in the GnomAD database, including 1,538 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 0.13 (1538 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.640
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.21 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.127 AC: 19271 AN: 151814 Hom.: 1530 Cov.: 32

Gnomad AFR AF: 0.214

Gnomad AMI AF: 0.0396

Gnomad AMR AF: 0.131

Gnomad ASJ AF: 0.149

Gnomad EAS AF: 0.0892

Gnomad SAS AF: 0.0777

Gnomad FIN AF: 0.0940

Gnomad MID AF: 0.108

Gnomad NFE AF: 0.0848

Gnomad OTH AF: 0.128

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

GnomAD4 genome AF: 0.127 AC: 19322 AN: 151932 Hom.: 1538 Cov.: 32 AF XY: 0.126 AC XY: 9387 AN XY: 74280

African (AFR) AF: 0.214 AC: 8868 AN: 41438

American (AMR) AF: 0.131 AC: 2003 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.149 AC: 515 AN: 3466

East Asian (EAS) AF: 0.0894 AC: 461 AN: 5156

South Asian (SAS) AF: 0.0780 AC: 376 AN: 4822

European-Finnish (FIN) AF: 0.0940 AC: 997 AN: 10602

Middle Eastern (MID) AF: 0.109 AC: 32 AN: 294

European-Non Finnish (NFE) AF: 0.0848 AC: 5756 AN: 67896

Other (OTH) AF: 0.132 AC: 278 AN: 2100

Alfa AF: 0.103 Hom.: 1812

Bravo AF: 0.134

Asia WGS AF: 0.109 AC: 376 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	8.2
DANN	Benign	0.32
PhyloP100		0.64

Splicing

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

Other links and lift over

dbSNP: rs7735145; hg19: chr5-116647725;