rs369452147
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_005379.4(MYO1A):c.2141G>T(p.Arg714Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,884 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R714H) has been classified as Likely benign.
Frequency
Consequence
NM_005379.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYO1A | NM_005379.4 | c.2141G>T | p.Arg714Leu | missense_variant | 20/28 | ENST00000300119.8 | |
MYO1A | NM_001256041.2 | c.2141G>T | p.Arg714Leu | missense_variant | 21/29 | ||
MYO1A | XM_047428876.1 | c.2141G>T | p.Arg714Leu | missense_variant | 21/29 | ||
MYO1A | XM_011538373.3 | c.2141G>T | p.Arg714Leu | missense_variant | 20/25 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYO1A | ENST00000300119.8 | c.2141G>T | p.Arg714Leu | missense_variant | 20/28 | 1 | NM_005379.4 | P1 | |
MYO1A | ENST00000442789.6 | c.2141G>T | p.Arg714Leu | missense_variant | 21/29 | 1 | P1 | ||
MYO1A | ENST00000554234.5 | c.1655G>T | p.Arg552Leu | missense_variant, NMD_transcript_variant | 16/24 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251428Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135876
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461884Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727246
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2023 | The c.2141G>T (p.R714L) alteration is located in exon 20 (coding exon 19) of the MYO1A gene. This alteration results from a G to T substitution at nucleotide position 2141, causing the arginine (R) at amino acid position 714 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at