chr2-170214436-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_138995.5(MYO3B):c.379C>T(p.Arg127Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000219 in 1,613,966 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R127Q) has been classified as Likely benign.
Frequency
Consequence
NM_138995.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYO3B | NM_138995.5 | c.379C>T | p.Arg127Trp | missense_variant | 4/35 | ENST00000408978.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYO3B | ENST00000408978.9 | c.379C>T | p.Arg127Trp | missense_variant | 4/35 | 1 | NM_138995.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000144 AC: 36AN: 249512Hom.: 0 AF XY: 0.000192 AC XY: 26AN XY: 135364
GnomAD4 exome AF: 0.000230 AC: 336AN: 1461818Hom.: 0 Cov.: 33 AF XY: 0.000249 AC XY: 181AN XY: 727216
GnomAD4 genome AF: 0.000118 AC: 18AN: 152148Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 25, 2024 | The c.379C>T (p.R127W) alteration is located in exon 4 (coding exon 4) of the MYO3B gene. This alteration results from a C to T substitution at nucleotide position 379, causing the arginine (R) at amino acid position 127 to be replaced by a tryptophan (W). 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