19-45179662-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_212550.5(BLOC1S3):āc.366C>Gā(p.His122Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000076 in 1,315,768 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H122R) has been classified as Uncertain significance.
Frequency
Consequence
NM_212550.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BLOC1S3 | NM_212550.5 | c.366C>G | p.His122Gln | missense_variant | 2/2 | ENST00000433642.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BLOC1S3 | ENST00000433642.3 | c.366C>G | p.His122Gln | missense_variant | 2/2 | 2 | NM_212550.5 | P1 | |
BLOC1S3 | ENST00000587722.1 | c.366C>G | p.His122Gln | missense_variant | 1/1 | P1 | |||
MARK4 | ENST00000587566.5 | c.-276-79327C>G | intron_variant | 5 | |||||
BLOC1S3 | ENST00000592910.1 | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.60e-7 AC: 1AN: 1315768Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 647940
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at