19-55287033-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_032430.2(BRSK1):āc.163A>Gā(p.Ile55Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,830 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (ā ).
Frequency
Consequence
NM_032430.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BRSK1 | NM_032430.2 | c.163A>G | p.Ile55Val | missense_variant | 2/19 | ENST00000309383.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BRSK1 | ENST00000309383.6 | c.163A>G | p.Ile55Val | missense_variant | 2/19 | 1 | NM_032430.2 | P1 | |
BRSK1 | ENST00000590333.5 | c.211A>G | p.Ile71Val | missense_variant | 4/21 | 1 | |||
BRSK1 | ENST00000585418.1 | c.163A>G | p.Ile55Val | missense_variant | 2/10 | 1 | |||
BRSK1 | ENST00000592539.6 | c.34A>G | p.Ile12Val | missense_variant, NMD_transcript_variant | 2/7 | 5 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251400Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135892
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461830Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 727226
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 06, 2023 | The c.163A>G (p.I55V) alteration is located in exon 2 (coding exon 2) of the BRSK1 gene. This alteration results from a A to G substitution at nucleotide position 163, causing the isoleucine (I) 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