rs9332417

Variant names:

• chr1-54653616-G-A
• rs9332417
• NM_001039464.4:c.690G>A

Your query was ambiguous. Multiple possible variants found:

• chr1-54653616-G-A
• chr1-54653616-G-C
• chr1-54653616-G-T

Variant summary

Our verdict is Likely benign. The variant received -3 ACMG points: 2P and 5B. PM2 BP4_Strong BP7

The NM_001039464.4(MROH7):​c.690G>A​(p.Leu230Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 31)
• Consequence: MROH7 NM_001039464.4 synonymous
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.43
• Publications: 16 publications found

Genes affected

MROH7 (HGNC:24802): (maestro heat like repeat family member 7) Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]

MROH7-TTC4 (HGNC:49180): (MROH7-TTC4 readthrough (NMD candidate)) This locus represents naturally occurring read-through transcription between the neighboring MROH7 (maestro heat-like repeat family member 7) and TTC4 (tetratricopeptide repeat domain 4) genes. Alternative splicing results in multiple transcript variants, which are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to produce protein products. [provided by RefSeq, Aug 2013]

ACMG classification

Our verdict: Likely_benign. The variant received -3 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BP7: Synonymous conserved (PhyloP=1.43 with no splicing effect.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001039464.4. 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
	MROH7	NM_001039464.4	MANE Select	c.690G>A	p.Leu230Leu	synonymous	Exon 3 of 24	NP_001034553.3
	MROH7	NM_001291332.2		c.-213-11551G>A		intron	N/A	NP_001278261.1
	MROH7	NR_026782.3		n.976G>A		non_coding_transcript_exon	Exon 3 of 24

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MROH7	ENST00000421030.7	TSL:2 MANE Select	c.690G>A	p.Leu230Leu	synonymous	Exon 3 of 24	ENSP00000396622.2
	MROH7-TTC4	ENST00000414150.6	TSL:2	n.690G>A		non_coding_transcript_exon	Exon 3 of 33	ENSP00000410192.2
	MROH7	ENST00000422659.5	TSL:1	n.690G>A		non_coding_transcript_exon	Exon 2 of 23	ENSP00000388181.1

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Cov.: 70

GnomAD4 genome Cov.: 31

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.81
DANN	Benign	0.62
PhyloP100		1.4
Mutation Taster		=100/0	polymorphism

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

Other links and lift over

dbSNP: rs9332417; hg19: chr1-55119289;