ARMC12 p.Tyr84Tyr

Variant names:

• chr6-35738112-G-G
• ENST00000373866.4:c.

Your query was ambiguous. Multiple possible variants found:

• chr6-35738113--
• chr6-35738115-T-C

Variant summary

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

The NM_001286574.2(ARMC12):​c. variant causes a intron change. 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: 32)
• Consequence: ARMC12 NM_001286574.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 4.17
• Publications: 0 publications found

Genes affected

ARMC12 (HGNC:21099): (armadillo repeat containing 12) Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

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_001286574.2. 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
	ARMC12	NM_001286574.2	MANE Select	c.		intron	N/A	NP_001273503.1	Q5T9G4-1
	ARMC12	NM_145028.5		c.		intron	N/A	NP_659465.2
	ARMC12	NM_001286576.2		c.		intron	N/A	NP_001273505.1	Q5T9G4-3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ARMC12	ENST00000373866.4	TSL:3 MANE Select	c.		exon_region	Exon 2 of 6	ENSP00000362973.3	Q5T9G4-1
	ARMC12	ENST00000288065.6	TSL:1	c.		exon_region	Exon 2 of 6	ENSP00000288065.2	Q5T9G4-2
	ARMC12	ENST00000373869.7	TSL:2	c.		exon_region	Exon 2 of 6	ENSP00000362976.3	Q5T9G4-3

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 30

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		4.2

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: chr6-35705889;