14-28767417-GCACCACCACCACCAC-GCACCACCACCACCACCACCAC
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP6_Moderate
The NM_005249.5(FOXG1):c.156_161dup(p.His56_His57dup) variant causes a inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000433 in 1,385,644 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. Q46Q) 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOXG1 | NM_005249.5 | c.156_161dup | p.His56_His57dup | inframe_insertion | 1/1 | ENST00000313071.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOXG1 | ENST00000313071.7 | c.156_161dup | p.His56_His57dup | inframe_insertion | 1/1 | NM_005249.5 | P1 | ||
FOXG1 | ENST00000706482.1 | c.156_161dup | p.His56_His57dup | inframe_insertion | 2/2 | P1 | |||
LINC01551 | ENST00000675861.1 | n.374+1422_374+1427dup | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0000140 AC: 2AN: 143126Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000143 AC: 2AN: 139964Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 76586
GnomAD4 exome AF: 0.00000322 AC: 4AN: 1242518Hom.: 0 Cov.: 30 AF XY: 0.00000325 AC XY: 2AN XY: 615220
GnomAD4 genome AF: 0.0000140 AC: 2AN: 143126Hom.: 0 Cov.: 30 AF XY: 0.0000288 AC XY: 2AN XY: 69430
ClinVar
Submissions by phenotype
Rett syndrome, congenital variant Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 15, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at