chr4-15703328-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004334.3(BST1):c.184C>G(p.Gln62Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004334.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BST1 | ENST00000265016.9 | c.184C>G | p.Gln62Glu | missense_variant | Exon 1 of 9 | 1 | NM_004334.3 | ENSP00000265016.4 | ||
BST1 | ENST00000382346.7 | c.184C>G | p.Gln62Glu | missense_variant | Exon 1 of 10 | 5 | ENSP00000371783.3 | |||
ENSG00000288606 | ENST00000504598.5 | n.522-2187C>G | intron_variant | Intron 3 of 3 | 4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.184C>G (p.Q62E) alteration is located in exon 1 (coding exon 1) of the BST1 gene. This alteration results from a C to G substitution at nucleotide position 184, causing the glutamine (Q) at amino acid position 62 to be replaced by a glutamic acid (E). 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.