5-35577155-C-T

Variant names:

• chr5-35577155-C-T
• rs286405

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 0.538 in 151,730 control chromosomes in the GnomAD database, including 23,278 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 0.54 (23278 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.318
• Publications: 2 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 = 0.71 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: 0.538 AC: 81516 AN: 151612 Hom.: 23228 Cov.: 33

Gnomad AFR AF: 0.717

Gnomad AMI AF: 0.323

Gnomad AMR AF: 0.542

Gnomad ASJ AF: 0.465

Gnomad EAS AF: 0.655

Gnomad SAS AF: 0.654

Gnomad FIN AF: 0.465

Gnomad MID AF: 0.525

Gnomad NFE AF: 0.429

Gnomad OTH AF: 0.505

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

GnomAD4 genome AF: 0.538 AC: 81624 AN: 151730 Hom.: 23278 Cov.: 33 AF XY: 0.543 AC XY: 40272 AN XY: 74134

African (AFR) AF: 0.717 AC: 29693 AN: 41402

American (AMR) AF: 0.543 AC: 8282 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.465 AC: 1611 AN: 3466

East Asian (EAS) AF: 0.656 AC: 3375 AN: 5148

South Asian (SAS) AF: 0.653 AC: 3143 AN: 4814

European-Finnish (FIN) AF: 0.465 AC: 4887 AN: 10500

Middle Eastern (MID) AF: 0.510 AC: 149 AN: 292

European-Non Finnish (NFE) AF: 0.429 AC: 29112 AN: 67838

Other (OTH) AF: 0.511 AC: 1078 AN: 2108

Alfa AF: 0.471 Hom.: 7758

Bravo AF: 0.549

Asia WGS AF: 0.669 AC: 2323 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	1.2
DANN	Benign	0.45
PhyloP100		-0.32

Splicing

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

Other links and lift over

dbSNP: rs286405; hg19: chr5-35577257;