rs1879248

Variant names:

• chr3-180833426-C-T
• rs1879248
• ENST00000485055.5:n.250+14081G>A

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000485055.5(ENSG00000285336):​n.250+14081G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.798 in 152,024 control chromosomes in the GnomAD database, including 49,049 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 0.80 (49049 hom., cov: 31)
• Consequence: ENSG00000285336 ENST00000485055.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0810
• Publications: 8 publications found

Genes affected

ENSG00000285336 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -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 = 0.93 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC101928882	NR_109986.1	n.250+14081G>A		intron_variant	Intron 2 of 13

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000285336	ENST00000485055.5	n.250+14081G>A		intron_variant	Intron 2 of 13	1
ENSG00000145075	ENST00000471307.6	n.252+14081G>A		intron_variant	Intron 2 of 6	3
ENSG00000285336	ENST00000495817.1	n.206+37374G>A		intron_variant	Intron 1 of 4	3

Frequencies

GnomAD3 genomes AF: 0.798 AC: 121265 AN: 151906 Hom.: 49003 Cov.: 31

Gnomad AFR AF: 0.938

Gnomad AMI AF: 0.703

Gnomad AMR AF: 0.777

Gnomad ASJ AF: 0.688

Gnomad EAS AF: 0.853

Gnomad SAS AF: 0.721

Gnomad FIN AF: 0.786

Gnomad MID AF: 0.741

Gnomad NFE AF: 0.730

Gnomad OTH AF: 0.759

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

GnomAD4 genome AF: 0.798 AC: 121365 AN: 152024 Hom.: 49049 Cov.: 31 AF XY: 0.800 AC XY: 59418 AN XY: 74298

African (AFR) AF: 0.937 AC: 38919 AN: 41514

American (AMR) AF: 0.777 AC: 11871 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.688 AC: 2385 AN: 3468

East Asian (EAS) AF: 0.853 AC: 4407 AN: 5168

South Asian (SAS) AF: 0.721 AC: 3470 AN: 4814

European-Finnish (FIN) AF: 0.786 AC: 8276 AN: 10534

Middle Eastern (MID) AF: 0.731 AC: 215 AN: 294

European-Non Finnish (NFE) AF: 0.730 AC: 49591 AN: 67938

Other (OTH) AF: 0.754 AC: 1593 AN: 2112

Alfa AF: 0.752 Hom.: 126609

Bravo AF: 0.805

Asia WGS AF: 0.764 AC: 2660 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	4.5
DANN	Benign	0.56
PhyloP100		0.081

Splicing

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

Other links and lift over

dbSNP: rs1879248; hg19: chr3-180551214;