chr2-44917613-G-A

Variant names:

• chr2-44917613-G-A
• rs1657855

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 0.176 in 152,000 control chromosomes in the GnomAD database, including 4,098 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 0.18 (4098 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0270

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.403 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: 0.176 AC: 26750 AN: 151882 Hom.: 4075 Cov.: 32

Gnomad AFR AF: 0.408

Gnomad AMI AF: 0.00329

Gnomad AMR AF: 0.163

Gnomad ASJ AF: 0.131

Gnomad EAS AF: 0.201

Gnomad SAS AF: 0.182

Gnomad FIN AF: 0.0374

Gnomad MID AF: 0.174

Gnomad NFE AF: 0.0620

Gnomad OTH AF: 0.183

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

GnomAD4 genome AF: 0.176 AC: 26814 AN: 152000 Hom.: 4098 Cov.: 32 AF XY: 0.175 AC XY: 12968 AN XY: 74310

Gnomad4 AFR AF: 0.408

Gnomad4 AMR AF: 0.163

Gnomad4 ASJ AF: 0.131

Gnomad4 EAS AF: 0.202

Gnomad4 SAS AF: 0.182

Gnomad4 FIN AF: 0.0374

Gnomad4 NFE AF: 0.0621

Gnomad4 OTH AF: 0.183

Alfa AF: 0.0824 Hom.: 1364

Bravo AF: 0.198

Asia WGS AF: 0.195 AC: 679 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	3.2
DANN	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1657855; hg19: chr2-45144752;