1-63323778-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_ModerateBP6_ModerateBP7
The NM_012183.3(FOXD3):c.720C>T(p.His240=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000411 in 1,461,300 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_012183.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOXD3 | NM_012183.3 | c.720C>T | p.His240= | synonymous_variant | 1/1 | ENST00000371116.4 | |
FOXD3-AS1 | NR_121637.1 | n.87+577G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOXD3 | ENST00000371116.4 | c.720C>T | p.His240= | synonymous_variant | 1/1 | NM_012183.3 | P1 | ||
FOXD3-AS1 | ENST00000427268.1 | n.87+577G>A | intron_variant, non_coding_transcript_variant | 1 | |||||
FOXD3-AS1 | ENST00000431294.7 | upstream_gene_variant | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1461300Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 726974
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
FOXD3-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Mar 27, 2019 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.