ENST00000435773.2:c.626-1540A>T

Variant names:

• chr2-199958339-T-.
• NM_001394955.1:c.451-929T>.

Variant summary

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

The ENST00000435773.2(MAIP1):​c.427-929T>. variant causes a intron change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 N/A (N/A hom., cov:)
  • Exomes 𝑓: N/A (N/A hom.)
• Consequence: MAIP1 ENST00000435773.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: No publications found

Genes affected

MAIP1 (HGNC:26198): (matrix AAA peptidase interacting protein 1) Predicted to enable ribosome binding activity. Involved in calcium import into the mitochondrion; mitochondrial calcium ion homeostasis; and protein insertion into mitochondrial membrane. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000435773.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MAIP1	NM_001394955.1	MANE Select	c.451-929T>.		intron	N/A	NP_001381884.1
	MAIP1	NM_024520.3		c.451-929T>.		intron	N/A	NP_078796.2
	MAIP1	NM_001369399.1		c.451-929T>.		intron	N/A	NP_001356328.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MAIP1	ENST00000392290.6	TSL:1 MANE Select	c.451-929T>.		intron	N/A	ENSP00000376111.1
	MAIP1	ENST00000295079.6	TSL:2	c.451-929T>.		intron	N/A	ENSP00000295079.2
	MAIP1	ENST00000435773.2	TSL:3	c.427-929T>.		intron	N/A	ENSP00000396846.2

Frequencies

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

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

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Splicing

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

Other links and lift over

hg19: chr2-200823062;