chr14-28767055-CT-C
Position:
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_005249.5(FOXG1):c.-210del variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0123 in 143,078 control chromosomes in the GnomAD database, including 18 homozygotes. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.011 ( 18 hom., cov: 29)
Exomes 𝑓: 0.068 ( 0 hom. )
Consequence
FOXG1
NM_005249.5 5_prime_UTR
NM_005249.5 5_prime_UTR
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.0490
Genes affected
FOXG1 (HGNC:3811): (forkhead box G1) This locus encodes a member of the fork-head transcription factor family. The encoded protein, which functions as a transcriptional repressor, is highly expressed in neural tissues during brain development. Mutations at this locus have been associated with Rett syndrome and a diverse spectrum of neurodevelopmental disorders defined as part of the FOXG1 syndrome. This gene is disregulated in many types of cancer and is the target of multiple microRNAs that regulate the proliferation of tumor cells. [provided by RefSeq, Jul 2020]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP6
Variant 14-28767055-CT-C is Benign according to our data. Variant chr14-28767055-CT-C is described in ClinVar as [Likely_benign]. Clinvar id is 1188300.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAdExome4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.0935 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOXG1 | NM_005249.5 | c.-210del | 5_prime_UTR_variant | 1/1 | ENST00000313071.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOXG1 | ENST00000313071.7 | c.-210del | 5_prime_UTR_variant | 1/1 | NM_005249.5 | P1 | |||
FOXG1 | ENST00000706482.1 | c.-210del | 5_prime_UTR_variant | 2/2 | P1 | ||||
LINC01551 | ENST00000675861.1 | n.374+1057del | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0109 AC: 1524AN: 139646Hom.: 18 Cov.: 29
GnomAD3 genomes
AF:
AC:
1524
AN:
139646
Hom.:
Cov.:
29
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome AF: 0.0685 AC: 235AN: 3432Hom.: 0 Cov.: 0 AF XY: 0.0759 AC XY: 149AN XY: 1962
GnomAD4 exome
AF:
AC:
235
AN:
3432
Hom.:
Cov.:
0
AF XY:
AC XY:
149
AN XY:
1962
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome AF: 0.0109 AC: 1522AN: 139646Hom.: 18 Cov.: 29 AF XY: 0.0107 AC XY: 726AN XY: 67582
GnomAD4 genome
AF:
AC:
1522
AN:
139646
Hom.:
Cov.:
29
AF XY:
AC XY:
726
AN XY:
67582
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Aug 21, 2019 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at