chr8-17727620-G-A

Variant names:

• chr8-17727620-G-A
• rs7842088
• NM_001363059.2:c.2288-3787C>T

Variant summary

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

The NM_001363059.2(MTUS1):​c.2288-3787C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.687 in 152,160 control chromosomes in the GnomAD database, including 36,612 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 0.69 (36612 hom., cov: 33)
• Consequence: MTUS1 NM_001363059.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.261
• Publications: 4 publications found

Genes affected

MTUS1 (HGNC:29789): (microtubule associated scaffold protein 1) This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq, Jul 2008]

ENSG00000301996 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.795 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001363059.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MTUS1	NM_001363059.2	MANE Select	c.2288-3787C>T		intron	N/A	NP_001349988.1	Q9ULD2-1
	MTUS1	NM_001363057.2		c.2288-3787C>T		intron	N/A	NP_001349986.1
	MTUS1	NM_001001924.3		c.2288-3787C>T		intron	N/A	NP_001001924.1	Q9ULD2-1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MTUS1	ENST00000693296.1	MANE Select	c.2288-3787C>T		intron	N/A	ENSP00000509719.1	Q9ULD2-1
	MTUS1	ENST00000262102.10	TSL:1	c.2288-3787C>T		intron	N/A	ENSP00000262102.6	Q9ULD2-1
	MTUS1	ENST00000520196.5	TSL:1	n.1490-3458C>T		intron	N/A	ENSP00000431016.1	H0YC63

Frequencies

GnomAD3 genomes AF: 0.687 AC: 104411 AN: 152042 Hom.: 36561 Cov.: 33

Gnomad AFR AF: 0.802

Gnomad AMI AF: 0.534

Gnomad AMR AF: 0.722

Gnomad ASJ AF: 0.734

Gnomad EAS AF: 0.480

Gnomad SAS AF: 0.514

Gnomad FIN AF: 0.637

Gnomad MID AF: 0.813

Gnomad NFE AF: 0.642

Gnomad OTH AF: 0.734

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

GnomAD4 genome AF: 0.687 AC: 104526 AN: 152160 Hom.: 36612 Cov.: 33 AF XY: 0.682 AC XY: 50761 AN XY: 74376

African (AFR) AF: 0.802 AC: 33312 AN: 41532

American (AMR) AF: 0.722 AC: 11043 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.734 AC: 2548 AN: 3470

East Asian (EAS) AF: 0.479 AC: 2478 AN: 5170

South Asian (SAS) AF: 0.516 AC: 2485 AN: 4814

European-Finnish (FIN) AF: 0.637 AC: 6734 AN: 10564

Middle Eastern (MID) AF: 0.823 AC: 242 AN: 294

European-Non Finnish (NFE) AF: 0.642 AC: 43652 AN: 68002

Other (OTH) AF: 0.733 AC: 1547 AN: 2110

Alfa AF: 0.666 Hom.: 64757

Bravo AF: 0.701

Asia WGS AF: 0.546 AC: 1904 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.47
DANN	Benign	0.69
PhyloP100		-0.26
Mutation Taster		=100/0	polymorphism (auto)

Splicing

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

Other links and lift over

dbSNP: rs7842088; hg19: chr8-17585129;