rs568637767
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_016239.4(MYO15A):āc.7386C>Gā(p.Ala2462=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000014 in 1,432,618 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A2462A) has been classified as Likely benign.
Frequency
Consequence
NM_016239.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYO15A | NM_016239.4 | c.7386C>G | p.Ala2462= | synonymous_variant | 37/66 | ENST00000647165.2 | |
LOC124903944 | XR_007065652.1 | n.377+847G>C | intron_variant, non_coding_transcript_variant | ||||
MYO15A | XM_017024715.3 | c.7389C>G | p.Ala2463= | synonymous_variant | 35/64 | ||
MYO15A | XM_017024714.3 | c.7326C>G | p.Ala2442= | synonymous_variant | 34/63 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYO15A | ENST00000647165.2 | c.7386C>G | p.Ala2462= | synonymous_variant | 37/66 | NM_016239.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000494 AC: 1AN: 202324Hom.: 0 AF XY: 0.00000915 AC XY: 1AN XY: 109236
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1432618Hom.: 0 Cov.: 33 AF XY: 0.00000141 AC XY: 1AN XY: 710104
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at