6-8062559-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_201280.3(BLOC1S5):āc.170C>Gā(p.Thr57Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000208 in 1,444,616 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_201280.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BLOC1S5 | ENST00000397457.7 | c.170C>G | p.Thr57Ser | missense_variant | Exon 2 of 5 | 1 | NM_201280.3 | ENSP00000380598.2 | ||
EEF1E1-BLOC1S5 | ENST00000397456.2 | n.442C>G | non_coding_transcript_exon_variant | Exon 4 of 7 | 3 | ENSP00000380597.2 | ||||
BLOC1S5-TXNDC5 | ENST00000439343.2 | n.158C>G | non_coding_transcript_exon_variant | Exon 2 of 13 | 2 | ENSP00000454697.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000208 AC: 3AN: 1444616Hom.: 0 Cov.: 27 AF XY: 0.00000278 AC XY: 2AN XY: 719216
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.