NM_001388306.1:c.691G>A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001388306.1(MIDN):c.691G>A(p.Val231Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,565,490 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. 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. V231L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001388306.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MIDN | NM_001388306.1 | c.691G>A | p.Val231Met | missense_variant | Exon 6 of 9 | ENST00000682408.1 | NP_001375235.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MIDN | ENST00000682408.1 | c.691G>A | p.Val231Met | missense_variant | Exon 6 of 9 | NM_001388306.1 | ENSP00000507955.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000349 AC: 6AN: 172094Hom.: 0 AF XY: 0.0000210 AC XY: 2AN XY: 95206
GnomAD4 exome AF: 0.0000198 AC: 28AN: 1413194Hom.: 0 Cov.: 34 AF XY: 0.0000214 AC XY: 15AN XY: 700796
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152296Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74466
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at