chr17-40628786-T-TAAA
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PM4_Supporting
The NM_003079.5(SMARCE1):c.1234_1235insTTT(p.Glu411_Ter412insPhe) variant causes a inframe insertion change. The variant allele was found at a frequency of 0.000000686 in 1,458,120 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. *412*) has been classified as Likely benign.
Frequency
Consequence
NM_003079.5 inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMARCE1 | NM_003079.5 | c.1234_1235insTTT | p.Glu411_Ter412insPhe | inframe_insertion | 11/11 | ENST00000348513.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMARCE1 | ENST00000348513.12 | c.1234_1235insTTT | p.Glu411_Ter412insPhe | inframe_insertion | 11/11 | 1 | NM_003079.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1458120Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 725614
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Familial meningioma Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Feb 24, 2021 | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with SMARCE1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the SMARCE1 gene (p.*412Pheext*1). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the stop codon of the SMARCE1 protein and extend the protein by 1 additional amino acid residues. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.