rs78645479
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_012183.3(FOXD3):c.-428C>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,174 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_012183.3 5_prime_UTR
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 |
---|---|---|---|---|---|---|---|
FOXD3 | NM_012183.3 | c.-428C>A | 5_prime_UTR_variant | 1/1 | ENST00000371116.4 | ||
FOXD3-AS1 | NR_121637.1 | n.88-1168G>T | intron_variant, non_coding_transcript_variant | ||||
FOXD3-AS1 | NR_121636.1 | n.185+860G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOXD3 | ENST00000371116.4 | c.-428C>A | 5_prime_UTR_variant | 1/1 | NM_012183.3 | P1 | |||
FOXD3-AS1 | ENST00000427268.1 | n.88-1168G>T | intron_variant, non_coding_transcript_variant | 1 | |||||
FOXD3-AS1 | ENST00000431294.7 | n.286+860G>T | intron_variant, non_coding_transcript_variant | 1 | |||||
FOXD3-AS1 | ENST00000697579.1 | n.368G>T | non_coding_transcript_exon_variant | 2/2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152060Hom.: 0 Cov.: 33
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74390
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.