chr16-83965295-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_182981.3(OSGIN1):āc.722A>Gā(p.Asn241Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000356 in 1,600,162 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_182981.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OSGIN1 | ENST00000393306.6 | c.722A>G | p.Asn241Ser | missense_variant | Exon 6 of 6 | 1 | NM_182981.3 | ENSP00000376983.1 | ||
OSGIN1 | ENST00000361711.7 | c.722A>G | p.Asn241Ser | missense_variant | Exon 6 of 6 | 2 | ENSP00000355374.3 | |||
OSGIN1 | ENST00000343939.6 | n.1354A>G | non_coding_transcript_exon_variant | Exon 7 of 7 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152162Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000126 AC: 3AN: 238662Hom.: 0 AF XY: 0.0000154 AC XY: 2AN XY: 129710
GnomAD4 exome AF: 0.0000373 AC: 54AN: 1448000Hom.: 0 Cov.: 34 AF XY: 0.0000362 AC XY: 26AN XY: 718682
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152162Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.722A>G (p.N241S) alteration is located in exon 6 (coding exon 5) of the OSGIN1 gene. This alteration results from a A to G substitution at nucleotide position 722, causing the asparagine (N) at amino acid position 241 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