chr2-168075210-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_013233.3(STK39):c.1111A>G(p.Ser371Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,776 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013233.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
STK39 | NM_013233.3 | c.1111A>G | p.Ser371Gly | missense_variant | Exon 11 of 18 | ENST00000355999.5 | NP_037365.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
STK39 | ENST00000355999.5 | c.1111A>G | p.Ser371Gly | missense_variant | Exon 11 of 18 | 1 | NM_013233.3 | ENSP00000348278.4 | ||
STK39 | ENST00000487143.5 | n.211A>G | non_coding_transcript_exon_variant | Exon 2 of 9 | 1 | |||||
STK39 | ENST00000697205.1 | c.1111A>G | p.Ser371Gly | missense_variant | Exon 11 of 17 | ENSP00000513185.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461776Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727192
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1111A>G (p.S371G) alteration is located in exon 11 (coding exon 11) of the STK39 gene. This alteration results from a A to G substitution at nucleotide position 1111, causing the serine (S) at amino acid position 371 to be replaced by a glycine (G). 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.