NM_005249.5:c.136delC
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 8P and 4B. PVS1BS2
The NM_005249.5(FOXG1):c.136delC(p.Gln46SerfsTer146) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000709 in 1,269,734 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. Q46Q) has been classified as Likely benign.
Frequency
Consequence
NM_005249.5 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FOXG1 | ENST00000313071.7 | c.136delC | p.Gln46SerfsTer146 | frameshift_variant | Exon 1 of 1 | 6 | NM_005249.5 | ENSP00000339004.3 | ||
FOXG1 | ENST00000706482.1 | c.136delC | p.Gln46SerfsTer146 | frameshift_variant | Exon 2 of 2 | ENSP00000516406.1 | ||||
LINC01551 | ENST00000675861.1 | n.374+1402delC | intron_variant | Intron 1 of 3 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 0.00000709 AC: 9AN: 1269734Hom.: 0 Cov.: 31 AF XY: 0.00000159 AC XY: 1AN XY: 629702
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at