rs1879976

Variant names:

• chr3-148625730-G-A
• rs1879976

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 0.526 in 152,008 control chromosomes in the GnomAD database, including 21,212 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 0.53 (21212 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.445
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.636 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: 0.526 AC: 79920 AN: 151890 Hom.: 21180 Cov.: 32

Gnomad AFR AF: 0.533

Gnomad AMI AF: 0.577

Gnomad AMR AF: 0.589

Gnomad ASJ AF: 0.562

Gnomad EAS AF: 0.655

Gnomad SAS AF: 0.557

Gnomad FIN AF: 0.541

Gnomad MID AF: 0.350

Gnomad NFE AF: 0.492

Gnomad OTH AF: 0.505

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

GnomAD4 genome AF: 0.526 AC: 79998 AN: 152008 Hom.: 21212 Cov.: 32 AF XY: 0.530 AC XY: 39379 AN XY: 74302

African (AFR) AF: 0.533 AC: 22108 AN: 41458

American (AMR) AF: 0.590 AC: 8996 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.562 AC: 1949 AN: 3470

East Asian (EAS) AF: 0.655 AC: 3390 AN: 5178

South Asian (SAS) AF: 0.557 AC: 2684 AN: 4822

European-Finnish (FIN) AF: 0.541 AC: 5714 AN: 10558

Middle Eastern (MID) AF: 0.353 AC: 103 AN: 292

European-Non Finnish (NFE) AF: 0.492 AC: 33446 AN: 67944

Other (OTH) AF: 0.511 AC: 1082 AN: 2116

Alfa AF: 0.502 Hom.: 73741

Bravo AF: 0.527

Asia WGS AF: 0.615 AC: 2136 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.16
DANN	Benign	0.23
PhyloP100		-0.45

Splicing

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

Other links and lift over

dbSNP: rs1879976; hg19: chr3-148343517;