12-57037948-G-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_005379.4(MYO1A):c.1882C>A(p.Arg628Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000205 in 1,461,878 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005379.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYO1A | NM_005379.4 | c.1882C>A | p.Arg628Ser | missense_variant | Exon 18 of 28 | ENST00000300119.8 | NP_005370.1 | |
MYO1A | NM_001256041.2 | c.1882C>A | p.Arg628Ser | missense_variant | Exon 19 of 29 | NP_001242970.1 | ||
MYO1A | XM_047428876.1 | c.1882C>A | p.Arg628Ser | missense_variant | Exon 19 of 29 | XP_047284832.1 | ||
MYO1A | XM_011538373.3 | c.1882C>A | p.Arg628Ser | missense_variant | Exon 18 of 25 | XP_011536675.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYO1A | ENST00000300119.8 | c.1882C>A | p.Arg628Ser | missense_variant | Exon 18 of 28 | 1 | NM_005379.4 | ENSP00000300119.3 | ||
MYO1A | ENST00000442789.6 | c.1882C>A | p.Arg628Ser | missense_variant | Exon 19 of 29 | 1 | ENSP00000393392.2 | |||
MYO1A | ENST00000554234.5 | n.1396C>A | non_coding_transcript_exon_variant | Exon 14 of 24 | 5 | ENSP00000451033.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461878Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727242
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.