rs327127

Positions:

• chr13-28944763-C-G

Variant summary

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

The NM_001033602.4(MTUS2):​c.-242-79694C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.864 in 152,122 control chromosomes in the GnomAD database, including 57,511 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 0.86 (57511 hom., cov: 32)
• Consequence: MTUS2 NM_001033602.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.22

Genes affected

MTUS2 (HGNC:20595): (microtubule associated scaffold protein 2) Enables microtubule binding activity and protein homodimerization activity. Part of nucleus. Colocalizes with centrosome and cytoplasmic microtubule. [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=-1.01).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.941 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
MTUS2	NM_001033602.4	c.-242-79694C>G		intron_variant		ENST00000612955.6	NP_001028774.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
MTUS2	ENST00000612955.6	c.-242-79694C>G		intron_variant		5	NM_001033602.4	ENSP00000483729

Frequencies

GnomAD3 genomes AF: 0.864 AC: 131328 AN: 152004 Hom.: 57489 Cov.: 32

Gnomad AFR AF: 0.727

Gnomad AMI AF: 0.995

Gnomad AMR AF: 0.871

Gnomad ASJ AF: 0.956

Gnomad EAS AF: 0.826

Gnomad SAS AF: 0.799

Gnomad FIN AF: 0.857

Gnomad MID AF: 0.873

Gnomad NFE AF: 0.947

Gnomad OTH AF: 0.887

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

GnomAD4 genome AF: 0.864 AC: 131399 AN: 152122 Hom.: 57511 Cov.: 32 AF XY: 0.856 AC XY: 63688 AN XY: 74368

Gnomad4 AFR AF: 0.727

Gnomad4 AMR AF: 0.870

Gnomad4 ASJ AF: 0.956

Gnomad4 EAS AF: 0.826

Gnomad4 SAS AF: 0.800

Gnomad4 FIN AF: 0.857

Gnomad4 NFE AF: 0.947

Gnomad4 OTH AF: 0.888

Alfa AF: 0.891 Hom.: 7654

Bravo AF: 0.863

Asia WGS AF: 0.790 AC: 2749 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	4.2
DANN	Benign	0.29

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs327127; hg19: chr13-29518900;