rs448733

Variant names:

• chr6-33035910-C-A
• rs448733

Your query was ambiguous. Multiple possible variants found:

• chr6-33035910-C-A
• chr6-33035910-C-G
• chr6-33035910-C-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 0.1 in 152,176 control chromosomes in the GnomAD database, including 1,358 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 0.10 (1358 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.418
• Publications: 19 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.238 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: 0.100 AC: 15235 AN: 152058 Hom.: 1346 Cov.: 32

Gnomad AFR AF: 0.242

Gnomad AMI AF: 0.0461

Gnomad AMR AF: 0.0768

Gnomad ASJ AF: 0.0346

Gnomad EAS AF: 0.00365

Gnomad SAS AF: 0.0476

Gnomad FIN AF: 0.00508

Gnomad MID AF: 0.0886

Gnomad NFE AF: 0.0493

Gnomad OTH AF: 0.108

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

GnomAD4 genome AF: 0.100 AC: 15290 AN: 152176 Hom.: 1358 Cov.: 32 AF XY: 0.0969 AC XY: 7215 AN XY: 74432

African (AFR) AF: 0.242 AC: 10050 AN: 41472

American (AMR) AF: 0.0766 AC: 1171 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.0346 AC: 120 AN: 3468

East Asian (EAS) AF: 0.00366 AC: 19 AN: 5192

South Asian (SAS) AF: 0.0479 AC: 231 AN: 4824

European-Finnish (FIN) AF: 0.00508 AC: 54 AN: 10620

Middle Eastern (MID) AF: 0.0952 AC: 28 AN: 294

European-Non Finnish (NFE) AF: 0.0493 AC: 3350 AN: 68008

Other (OTH) AF: 0.107 AC: 225 AN: 2108

Alfa AF: 0.0630 Hom.: 2121

Bravo AF: 0.114

Asia WGS AF: 0.0630 AC: 218 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	1.5
DANN	Benign	0.66
PhyloP100		0.42

Splicing

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

Other links and lift over

dbSNP: rs448733; hg19: chr6-33003687;