rs918143

chr11-116759884-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_032725.4(BUD13):c.1255-705G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.407 in 151,980 control chromosomes in the GnomAD database, including 12,961 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 0.41 (12961 hom., cov: 32)
• Consequence: BUD13 NM_032725.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.378

Genes affected

BUD13 (HGNC:28199): (BUD13 homolog) Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.442 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
BUD13	NM_032725.4	c.1255-705G>A		intron_variant		ENST00000260210.5
BUD13	NM_001159736.2	c.853-705G>A		intron_variant
BUD13	XM_011543035.3	c.1156-705G>A		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
BUD13	ENST00000260210.5	c.1255-705G>A		intron_variant		1	NM_032725.4	P2
BUD13	ENST00000375445.7	c.853-705G>A		intron_variant		1		A2
BUD13	ENST00000419189.1	c.285-1944G>A		intron_variant, NMD_transcript_variant		5

Frequencies

GnomAD3 genomes AF: 0.408 AC: 61919 AN: 151862 Hom.: 12967 Cov.: 32

Gnomad AFR AF: 0.415

Gnomad AMI AF: 0.399

Gnomad AMR AF: 0.310

Gnomad ASJ AF: 0.422

Gnomad EAS AF: 0.351

Gnomad SAS AF: 0.276

Gnomad FIN AF: 0.362

Gnomad MID AF: 0.357

Gnomad NFE AF: 0.446

Gnomad OTH AF: 0.399

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

GnomAD4 genome AF: 0.407 AC: 61928 AN: 151980 Hom.: 12961 Cov.: 32 AF XY: 0.396 AC XY: 29431 AN XY: 74286

Gnomad4 AFR AF: 0.415

Gnomad4 AMR AF: 0.309

Gnomad4 ASJ AF: 0.422

Gnomad4 EAS AF: 0.350

Gnomad4 SAS AF: 0.276

Gnomad4 FIN AF: 0.362

Gnomad4 NFE AF: 0.446

Gnomad4 OTH AF: 0.395

Alfa AF: 0.426 Hom.: 7755

Bravo AF: 0.407

Asia WGS AF: 0.291 AC: 1014 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
Cadd	Benign	1.1
Dann	Benign	0.49

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs918143; hg19: chr11-116630600;