2-230165838-T-C

Position:

• chr2-230165838-T-C

Variant summary

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

The NM_080424.4(SP110):​c.*3286A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.57 in 151,112 control chromosomes in the GnomAD database, including 24,603 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 0.57 (24603 hom., cov: 29)
• Consequence: SP110 NM_080424.4 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.521

Genes affected

SP110 (HGNC:5401): (SP110 nuclear body protein) The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]

ENSG00000225963 (HGNC:):

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 (NFE) allele frequency at 95% confidence interval = 0.591 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SP110	NM_080424.4	c.*3286A>G		3_prime_UTR_variant	19/19	ENST00000258381.11	NP_536349.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SP110	ENST00000258381	c.*3286A>G		3_prime_UTR_variant	19/19	2	NM_080424.4	ENSP00000258381.6

Frequencies

GnomAD3 genomes AF: 0.570 AC: 86028 AN: 150998 Hom.: 24582 Cov.: 29

Gnomad AFR AF: 0.551

Gnomad AMI AF: 0.756

Gnomad AMR AF: 0.529

Gnomad ASJ AF: 0.612

Gnomad EAS AF: 0.432

Gnomad SAS AF: 0.550

Gnomad FIN AF: 0.574

Gnomad MID AF: 0.582

Gnomad NFE AF: 0.596

Gnomad OTH AF: 0.581

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

GnomAD4 genome AF: 0.570 AC: 86100 AN: 151112 Hom.: 24603 Cov.: 29 AF XY: 0.565 AC XY: 41669 AN XY: 73788

Gnomad4 AFR AF: 0.552

Gnomad4 AMR AF: 0.528

Gnomad4 ASJ AF: 0.612

Gnomad4 EAS AF: 0.433

Gnomad4 SAS AF: 0.550

Gnomad4 FIN AF: 0.574

Gnomad4 NFE AF: 0.596

Gnomad4 OTH AF: 0.584

Alfa AF: 0.569 Hom.: 4471

Bravo AF: 0.564

Asia WGS AF: 0.513 AC: 1785 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	2.2
DANN	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3731723; hg19: chr2-231030554;