17-18171691-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016239.4(MYO15A):c.10136C>T(p.Ser3379Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000161 in 1,613,250 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S3379S) has been classified as Likely benign.
Frequency
Consequence
NM_016239.4 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 |
---|---|---|---|---|---|---|---|
MYO15A | NM_016239.4 | c.10136C>T | p.Ser3379Leu | missense_variant | 63/66 | ENST00000647165.2 | |
MYO15A | XM_017024715.3 | c.10139C>T | p.Ser3380Leu | missense_variant | 61/64 | ||
MYO15A | XM_017024714.3 | c.10076C>T | p.Ser3359Leu | missense_variant | 60/63 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYO15A | ENST00000647165.2 | c.10136C>T | p.Ser3379Leu | missense_variant | 63/66 | NM_016239.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 152160Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 247824Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134840
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1460972Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 10AN XY: 726836
GnomAD4 genome ? AF: 0.0000328 AC: 5AN: 152278Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74448
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at