rs174448

Variant names:

• chr11-61872101-G-A
• rs174448

Your query was ambiguous. Multiple possible variants found:

• chr11-61872101-G-A
• chr11-61872101-G-C
• chr11-61872101-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 0.608 in 152,002 control chromosomes in the GnomAD database, including 28,507 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 0.61 (28507 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00100
• Publications: 75 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.702 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: 0.608 AC: 92328 AN: 151886 Hom.: 28493 Cov.: 32

Gnomad AFR AF: 0.593

Gnomad AMI AF: 0.622

Gnomad AMR AF: 0.454

Gnomad ASJ AF: 0.649

Gnomad EAS AF: 0.721

Gnomad SAS AF: 0.633

Gnomad FIN AF: 0.626

Gnomad MID AF: 0.576

Gnomad NFE AF: 0.636

Gnomad OTH AF: 0.597

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

GnomAD4 genome AF: 0.608 AC: 92378 AN: 152002 Hom.: 28507 Cov.: 32 AF XY: 0.606 AC XY: 45043 AN XY: 74282

African (AFR) AF: 0.593 AC: 24586 AN: 41436

American (AMR) AF: 0.454 AC: 6930 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.649 AC: 2252 AN: 3472

East Asian (EAS) AF: 0.722 AC: 3726 AN: 5162

South Asian (SAS) AF: 0.632 AC: 3044 AN: 4820

European-Finnish (FIN) AF: 0.626 AC: 6614 AN: 10562

Middle Eastern (MID) AF: 0.575 AC: 169 AN: 294

European-Non Finnish (NFE) AF: 0.636 AC: 43229 AN: 67960

Other (OTH) AF: 0.598 AC: 1262 AN: 2112

Alfa AF: 0.626 Hom.: 115537

Bravo AF: 0.594

Asia WGS AF: 0.641 AC: 2231 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	2.7
DANN	Benign	0.56
PhyloP100		0.0010

Splicing

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

Other links and lift over

dbSNP: rs174448; hg19: chr11-61639573;