rs1555659856
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001113491.2(SEPTIN9):c.353_354delinsCC(p.Gln118Pro) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Uncertain significancein ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q118H) has been classified as Uncertain significance.
Frequency
Consequence
NM_001113491.2 missense
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 | UniProt |
---|---|---|---|---|---|---|---|
SEPTIN9 | NM_001113491.2 | c.353_354delinsCC | p.Gln118Pro | missense_variant | 3/12 | ENST00000427177.6 | |
SEPTIN9 | NM_006640.5 | c.299_300delinsCC | p.Gln100Pro | missense_variant | 2/11 | ENST00000329047.13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SEPTIN9 | ENST00000329047.13 | c.299_300delinsCC | p.Gln100Pro | missense_variant | 2/11 | 1 | NM_006640.5 | P3 | |
SEPTIN9 | ENST00000427177.6 | c.353_354delinsCC | p.Gln118Pro | missense_variant | 3/12 | 1 | NM_001113491.2 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 03, 2024 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Aug 01, 2023 | SEPTIN9: PM2, PS4:Supporting - |
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Athena Diagnostics | Jan 26, 2017 | - - |
Amyotrophic neuralgia Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Jul 22, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at