9-116440792-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001365068.1(ASTN2):āc.3599A>Gā(p.Glu1200Gly) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,460,002 control chromosomes in the GnomAD database, with no homozygous occurrence. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001365068.1 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASTN2 | NM_001365068.1 | c.3599A>G | p.Glu1200Gly | missense_variant, splice_region_variant | 22/23 | ENST00000313400.9 | NP_001351997.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ASTN2 | ENST00000313400.9 | c.3599A>G | p.Glu1200Gly | missense_variant, splice_region_variant | 22/23 | 5 | NM_001365068.1 | ENSP00000314038 | A2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460002Hom.: 0 Cov.: 31 AF XY: 0.00000276 AC XY: 2AN XY: 725890
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 13, 2021 | The c.3446A>G (p.E1149G) alteration is located in exon 21 (coding exon 21) of the ASTN2 gene. This alteration results from a A to G substitution at nucleotide position 3446, causing the glutamic acid (E) at amino acid position 1149 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