12-55716951-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001487.4(BLOC1S1):c.164C>T(p.Ala55Val) variant causes a missense change. The variant allele was found at a frequency of 0.000000694 in 1,440,844 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001487.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BLOC1S1 | ENST00000548925.6 | c.164C>T | p.Ala55Val | missense_variant | Exon 2 of 4 | 1 | NM_001487.4 | ENSP00000447537.1 | ||
ENSG00000258311 | ENST00000550412.5 | c.164C>T | p.Ala55Val | missense_variant | Exon 2 of 4 | 2 | ENSP00000447650.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.94e-7 AC: 1AN: 1440844Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 716452
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.164C>T (p.A55V) alteration is located in exon 2 (coding exon 2) of the BLOC1S1 gene. This alteration results from a C to T substitution at nucleotide position 164, causing the alanine (A) at amino acid position 55 to be replaced by a valine (V). 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
Publications
No publications associated with this variant yet.