12-57043919-C-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_005379.4(MYO1A):c.829G>T(p.Val277Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,614,066 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. V277M) has been classified as Uncertain significance.
Frequency
Consequence
NM_005379.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYO1A | NM_005379.4 | c.829G>T | p.Val277Leu | missense_variant | 10/28 | ENST00000300119.8 | |
MYO1A | NM_001256041.2 | c.829G>T | p.Val277Leu | missense_variant | 11/29 | ||
MYO1A | XM_047428876.1 | c.829G>T | p.Val277Leu | missense_variant | 11/29 | ||
MYO1A | XM_011538373.3 | c.829G>T | p.Val277Leu | missense_variant | 10/25 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYO1A | ENST00000300119.8 | c.829G>T | p.Val277Leu | missense_variant | 10/28 | 1 | NM_005379.4 | P1 | |
MYO1A | ENST00000442789.6 | c.829G>T | p.Val277Leu | missense_variant | 11/29 | 1 | P1 | ||
MYO1A | ENST00000492945.5 | c.-20-561G>T | intron_variant | 4 | |||||
MYO1A | ENST00000554234.5 | c.343G>T | p.Val115Leu | missense_variant, NMD_transcript_variant | 6/24 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251140Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135714
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461890Hom.: 0 Cov.: 32 AF XY: 0.00000413 AC XY: 3AN XY: 727246
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152176Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at