19-55301537-A-G
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_032430.2(BRSK1):c.704A>G(p.Asn235Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,550 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032430.2 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BRSK1 | ENST00000309383.6 | c.704A>G | p.Asn235Ser | missense_variant | Exon 8 of 19 | 1 | NM_032430.2 | ENSP00000310649.1 | ||
BRSK1 | ENST00000590333.5 | c.752A>G | p.Asn251Ser | missense_variant | Exon 10 of 21 | 1 | ENSP00000468190.1 | |||
BRSK1 | ENST00000585418.1 | c.704A>G | p.Asn235Ser | missense_variant | Exon 8 of 10 | 1 | ENSP00000467357.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461550Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 727066 show subpopulations
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.704A>G (p.N235S) alteration is located in exon 8 (coding exon 8) of the BRSK1 gene. This alteration results from a A to G substitution at nucleotide position 704, causing the asparagine (N) at amino acid position 235 to be replaced by a serine (S). 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