rs1867277
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Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_004473.4(FOXE1):c.-283A>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.63 in 343,252 control chromosomes in the GnomAD database, including 69,180 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.63 ( 30797 hom., cov: 33)
Exomes 𝑓: 0.63 ( 38383 hom. )
Consequence
FOXE1
NM_004473.4 5_prime_UTR
NM_004473.4 5_prime_UTR
Scores
2
Clinical Significance
Conservation
PhyloP100: -1.08
Genes affected
FOXE1 (HGNC:3806): (forkhead box E1) This intronless gene encodes a protein that belongs to the forkhead family of transcription factors. Members of this family contain a conserved 100-amino acid DNA-binding 'forkhead' domain. The encoded protein functions as a thyroid transcription factor that plays a role in thyroid morphogenesis. Mutations in this gene are associated with the Bamforth-Lazarus syndrome, and with susceptibility to nonmedullary thyroid cancer-4. [provided by RefSeq, Nov 2016]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
BP6
?
Variant 9-97853632-A-G is Benign according to our data. Variant chr9-97853632-A-G is described in ClinVar as [Benign]. Clinvar id is 1297302.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.865 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOXE1 | NM_004473.4 | c.-283A>G | 5_prime_UTR_variant | 1/1 | ENST00000375123.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOXE1 | ENST00000375123.5 | c.-283A>G | 5_prime_UTR_variant | 1/1 | NM_004473.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.633 AC: 96259AN: 151980Hom.: 30772 Cov.: 33
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GnomAD4 exome AF: 0.627 AC: 119889AN: 191158Hom.: 38383 Cov.: 2 AF XY: 0.624 AC XY: 61126AN XY: 97906
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GnomAD4 genome ? AF: 0.633 AC: 96319AN: 152094Hom.: 30797 Cov.: 33 AF XY: 0.638 AC XY: 47411AN XY: 74348
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 11, 2018 | This variant is associated with the following publications: (PMID: 22282540, 19730683, 26202972, 31395865) - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at