rs930395

Variant names:

• chr5-44822356-G-A
• rs930395

Your query was ambiguous. Multiple possible variants found:

• chr5-44822356-G-A
• chr5-44822356-G-T

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 0.23 in 152,042 control chromosomes in the GnomAD database, including 4,387 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 0.23 (4387 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.593
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.474 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: 0.230 AC: 34894 AN: 151924 Hom.: 4368 Cov.: 32

Gnomad AFR AF: 0.183

Gnomad AMI AF: 0.226

Gnomad AMR AF: 0.296

Gnomad ASJ AF: 0.172

Gnomad EAS AF: 0.490

Gnomad SAS AF: 0.279

Gnomad FIN AF: 0.233

Gnomad MID AF: 0.220

Gnomad NFE AF: 0.222

Gnomad OTH AF: 0.245

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

GnomAD4 genome AF: 0.230 AC: 34940 AN: 152042 Hom.: 4387 Cov.: 32 AF XY: 0.235 AC XY: 17458 AN XY: 74306

African (AFR) AF: 0.182 AC: 7557 AN: 41476

American (AMR) AF: 0.297 AC: 4537 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.172 AC: 597 AN: 3466

East Asian (EAS) AF: 0.490 AC: 2528 AN: 5162

South Asian (SAS) AF: 0.279 AC: 1344 AN: 4810

European-Finnish (FIN) AF: 0.233 AC: 2462 AN: 10560

Middle Eastern (MID) AF: 0.229 AC: 67 AN: 292

European-Non Finnish (NFE) AF: 0.222 AC: 15111 AN: 67986

Other (OTH) AF: 0.251 AC: 532 AN: 2116

Alfa AF: 0.224 Hom.: 1785

Bravo AF: 0.232

Asia WGS AF: 0.378 AC: 1313 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.4
DANN	Benign	0.44
PhyloP100		-0.59

Splicing

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

Other links and lift over

dbSNP: rs930395; hg19: chr5-44822458;