6-8041262-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_201280.3(BLOC1S5):c.202C>T(p.Arg68Cys) variant causes a missense change. The variant allele was found at a frequency of 0.000014 in 1,577,042 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_201280.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BLOC1S5 | ENST00000397457.7 | c.202C>T | p.Arg68Cys | missense_variant | Exon 3 of 5 | 1 | NM_201280.3 | ENSP00000380598.2 | ||
EEF1E1-BLOC1S5 | ENST00000397456.2 | n.*18C>T | non_coding_transcript_exon_variant | Exon 5 of 7 | 3 | ENSP00000380597.2 | ||||
BLOC1S5-TXNDC5 | ENST00000439343.2 | n.190C>T | non_coding_transcript_exon_variant | Exon 3 of 13 | 2 | ENSP00000454697.1 | ||||
EEF1E1-BLOC1S5 | ENST00000397456.2 | n.*18C>T | 3_prime_UTR_variant | Exon 5 of 7 | 3 | ENSP00000380597.2 |
Frequencies
GnomAD3 genomes AF: 0.0000205 AC: 3AN: 146102Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000678 AC: 16AN: 236040Hom.: 0 AF XY: 0.0000703 AC XY: 9AN XY: 128020
GnomAD4 exome AF: 0.0000133 AC: 19AN: 1430922Hom.: 0 Cov.: 32 AF XY: 0.0000169 AC XY: 12AN XY: 712038
GnomAD4 genome AF: 0.0000205 AC: 3AN: 146120Hom.: 0 Cov.: 31 AF XY: 0.0000424 AC XY: 3AN XY: 70814
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.202C>T (p.R68C) alteration is located in exon 3 (coding exon 3) of the BLOC1S5 gene. This alteration results from a C to T substitution at nucleotide position 202, causing the arginine (R) at amino acid position 68 to be replaced by a cysteine (C). 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