rs1448817

Variant names:

• chr4-110719897-A-G
• rs1448817

Your query was ambiguous. Multiple possible variants found:

• chr4-110719897-A-G
• chr4-110719897-A-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 0.377 in 151,918 control chromosomes in the GnomAD database, including 11,806 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 0.38 (11806 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.368
• Publications: 17 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.712 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: 0.377 AC: 57257 AN: 151800 Hom.: 11778 Cov.: 32

Gnomad AFR AF: 0.450

Gnomad AMI AF: 0.298

Gnomad AMR AF: 0.475

Gnomad ASJ AF: 0.500

Gnomad EAS AF: 0.730

Gnomad SAS AF: 0.407

Gnomad FIN AF: 0.357

Gnomad MID AF: 0.411

Gnomad NFE AF: 0.280

Gnomad OTH AF: 0.373

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

GnomAD4 genome AF: 0.377 AC: 57330 AN: 151918 Hom.: 11806 Cov.: 32 AF XY: 0.391 AC XY: 29007 AN XY: 74244

African (AFR) AF: 0.450 AC: 18677 AN: 41460

American (AMR) AF: 0.475 AC: 7238 AN: 15224

Ashkenazi Jewish (ASJ) AF: 0.500 AC: 1734 AN: 3466

East Asian (EAS) AF: 0.731 AC: 3757 AN: 5138

South Asian (SAS) AF: 0.407 AC: 1964 AN: 4824

European-Finnish (FIN) AF: 0.357 AC: 3769 AN: 10570

Middle Eastern (MID) AF: 0.412 AC: 121 AN: 294

European-Non Finnish (NFE) AF: 0.280 AC: 19009 AN: 67920

Other (OTH) AF: 0.374 AC: 790 AN: 2112

Alfa AF: 0.307 Hom.: 36040

Bravo AF: 0.390

Asia WGS AF: 0.548 AC: 1903 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.82
DANN	Benign	0.32
PhyloP100		-0.37

Splicing

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

Other links and lift over

dbSNP: rs1448817; hg19: chr4-111641053;