NM_000381.4:c.1544_1546delAGA
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PM4_Supporting
The NM_000381.4(MID1):c.1544_1546delAGA(p.Lys515del) variant causes a disruptive inframe deletion change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000182 in 1,096,323 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_000381.4 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MID1 | NM_000381.4 | c.1544_1546delAGA | p.Lys515del | disruptive_inframe_deletion | Exon 9 of 10 | ENST00000317552.9 | NP_000372.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MID1 | ENST00000317552.9 | c.1544_1546delAGA | p.Lys515del | disruptive_inframe_deletion | Exon 9 of 10 | 1 | NM_000381.4 | ENSP00000312678.4 | ||
MID1 | ENST00000380782.6 | c.1544_1546delAGA | p.Lys515del | disruptive_inframe_deletion | Exon 9 of 10 | 1 | ENSP00000370159.1 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.00000546 AC: 1AN: 183304Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67812
GnomAD4 exome AF: 0.00000182 AC: 2AN: 1096323Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 361721
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
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Inborn genetic diseases Uncertain:1
The c.1544_1546delAGA variant (also known as p.K515DEL) is located in coding exon 8 of the MID1 gene. This variant results from an in-frame AGA deletion of from nucleotide positions 1544 to 1546. This results in the deletion of lysine at codon 515. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples with coverage at this position. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. -
MID1-related disorder Uncertain:1
The MID1 c.1544_1546delAGA variant is predicted to result in an in-frame deletion (p.Lys515del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 1 of 183304 alleles in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at