rs1724630
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001382347.1(MYO5A):c.612+342C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000723 in 152,042 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.
Frequency
Consequence
NM_001382347.1 intron
Scores
Clinical Significance
Conservation
Publications
- Griscelli syndrome type 1Inheritance: AR Classification: DEFINITIVE, STRONG, MODERATE Submitted by: ClinGen, G2P, Labcorp Genetics (formerly Invitae), Ambry Genetics
- Griscelli syndrome type 3Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYO5A | NM_001382347.1 | c.612+342C>T | intron_variant | Intron 5 of 41 | ENST00000399233.7 | NP_001369276.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000724 AC: 11AN: 151924Hom.: 0 Cov.: 31 show subpopulations
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152042Hom.: 0 Cov.: 31 AF XY: 0.0000673 AC XY: 5AN XY: 74324 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at