MRO p.Ala163Ala

Variant names:

• chr18-50801444-C-C
• NM_031939.6:c.

Your query was ambiguous. Multiple possible variants found:

• chr18-50801445--
• chr18-50801445-G-A
• chr18-50801445-G-T
• chr18-50801445-G-C

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The NM_031939.6(MRO):​c. variant causes a exon region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 30)
• Consequence: MRO NM_031939.6 exon_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.102
• Publications: 0 publications found

Genes affected

MRO (HGNC:24121): (maestro) This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_031939.6. 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
	MRO	NM_031939.6	MANE Select	c.		exon_region	Exon 6 of 8	NP_114145.2	Q9BYG7-1
	MRO	NM_001127176.3		c.		exon_region	Exon 5 of 7	NP_001120648.1	Q9BYG7-5
	MRO	NM_001369508.2		c.		exon_region	Exon 6 of 8	NP_001356437.1	Q9BYG7-1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MRO	ENST00000398439.8	TSL:1 MANE Select	c.		exon_region	Exon 6 of 8	ENSP00000381465.2	Q9BYG7-1
	MRO	ENST00000256425.6	TSL:1	c.		exon_region	Exon 6 of 8	ENSP00000256425.2	Q9BYG7-1
	MRO	ENST00000585524.5	TSL:1	n.		exon_region	Exon 6 of 8	ENSP00000465783.1	K7EKU2

Frequencies

GnomAD3 genomes Cov.: 30

GnomAD4 exome Cov.: 39

GnomAD4 genome Cov.: 30

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.10

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

hg19: chr18-48327814;