rs537985967
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_005932.4(MIPEP):c.2080G>C(p.Val694Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,460,426 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V694I) has been classified as Uncertain significance.
Frequency
Consequence
NM_005932.4 missense
Scores
Clinical Significance
Conservation
Publications
- lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndromeInheritance: AR Classification: STRONG, SUPPORTIVE Submitted by: Labcorp Genetics (formerly Invitae), Orphanet, Broad Center for Mendelian Genomics
- mitochondrial diseaseInheritance: AR Classification: MODERATE Submitted by: ClinGen
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MIPEP | NM_005932.4 | c.2080G>C | p.Val694Leu | missense_variant | Exon 19 of 19 | ENST00000382172.4 | NP_005923.3 | |
MIPEP | XM_011535097.3 | c.1894G>C | p.Val632Leu | missense_variant | Exon 19 of 19 | XP_011533399.1 | ||
LOC105370113 | XR_007063722.1 | n.651+1133C>G | intron_variant | Intron 1 of 1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD2 exomes AF: 0.00000401 AC: 1AN: 249256 AF XY: 0.00 show subpopulations
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1460426Hom.: 0 Cov.: 29 AF XY: 0.00000275 AC XY: 2AN XY: 726514 show subpopulations
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at