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

Variant names:

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

Variant summary

Our verdict is Uncertain significance. Variant got 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

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

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
MAIP1	NM_001394955.1	c.451-929T>.		intron_variant	Intron 1 of 4	ENST00000392290.6	NP_001381884.1
MAIP1	NM_024520.3	c.451-929T>.		intron_variant	Intron 2 of 5		NP_078796.2
MAIP1	NM_001369399.1	c.451-929T>.		intron_variant	Intron 2 of 4		NP_001356328.1
MAIP1	NR_161377.1	n.773-929T>.		intron_variant	Intron 2 of 5

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
MAIP1	ENST00000392290.6	c.451-929T>.		intron_variant	Intron 1 of 4	1	NM_001394955.1	ENSP00000376111.1
MAIP1	ENST00000295079.6	c.451-929T>.		intron_variant	Intron 2 of 5	2		ENSP00000295079.2
MAIP1	ENST00000435773.2	c.427-929T>.		intron_variant	Intron 1 of 4	3		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 v4.3

Splicing

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

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr2-200823062;