6-155608667-C-T

Variant names:

• chr6-155608667-C-T
• rs35229355

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.0468 in 151,950 control chromosomes in the GnomAD database, including 520 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 0.047 (520 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.360

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.362 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: 0.0468 AC: 7100 AN: 151832 Hom.: 522 Cov.: 33

Gnomad AFR AF: 0.0696

Gnomad AMI AF: 0.0746

Gnomad AMR AF: 0.0291

Gnomad ASJ AF: 0.0205

Gnomad EAS AF: 0.376

Gnomad SAS AF: 0.103

Gnomad FIN AF: 0.00389

Gnomad MID AF: 0.0253

Gnomad NFE AF: 0.0155

Gnomad OTH AF: 0.0475

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

GnomAD4 genome AF: 0.0468 AC: 7108 AN: 151950 Hom.: 520 Cov.: 33 AF XY: 0.0495 AC XY: 3674 AN XY: 74256

Gnomad4 AFR AF: 0.0696

Gnomad4 AMR AF: 0.0290

Gnomad4 ASJ AF: 0.0205

Gnomad4 EAS AF: 0.376

Gnomad4 SAS AF: 0.102

Gnomad4 FIN AF: 0.00389

Gnomad4 NFE AF: 0.0155

Gnomad4 OTH AF: 0.0517

Alfa AF: 0.0394 Hom.: 531

Bravo AF: 0.0516

Asia WGS AF: 0.231 AC: 802 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	4.0
DANN	Benign	0.34

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs35229355; hg19: chr6-155929801;