14-28767485-CGCAGCA-CGCAGCAGCAGCAGCA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005249.5(FOXG1):c.212_220dup(p.Gln71_Gln73dup) variant causes a inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000219 in 911,162 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. P69P) has been classified as Likely benign.
Frequency
Consequence
NM_005249.5 inframe_insertion
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 |
---|---|---|---|---|---|---|---|
FOXG1 | NM_005249.5 | c.212_220dup | p.Gln71_Gln73dup | inframe_insertion | 1/1 | ENST00000313071.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOXG1 | ENST00000313071.7 | c.212_220dup | p.Gln71_Gln73dup | inframe_insertion | 1/1 | NM_005249.5 | P1 | ||
FOXG1 | ENST00000706482.1 | c.212_220dup | p.Gln71_Gln73dup | inframe_insertion | 2/2 | P1 | |||
LINC01551 | ENST00000675861.1 | n.374+1478_374+1486dup | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 0.00000220 AC: 2AN: 911162Hom.: 0 Cov.: 16 AF XY: 0.00 AC XY: 0AN XY: 440350
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at