chr11-72139361-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM2PM4BP6_Moderate
The NM_000804.4(FOLR3):c.372G>A(p.Trp124Ter) variant causes a stop gained change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,260 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_000804.4 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOLR3 | NM_000804.4 | c.372G>A | p.Trp124Ter | stop_gained | 4/5 | ENST00000611028.3 | |
FOLR3 | NR_178088.1 | n.550G>A | non_coding_transcript_exon_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOLR3 | ENST00000611028.3 | c.372G>A | p.Trp124Ter | stop_gained | 4/5 | 1 | NM_000804.4 | P1 | |
FOLR3 | ENST00000612844.4 | c.500G>A | p.Gly167Asp | missense_variant, NMD_transcript_variant | 4/5 | 1 | |||
FOLR3 | ENST00000622388.4 | c.372G>A | p.Trp124Ter | stop_gained | 5/6 | 5 | |||
FOLR3 | ENST00000545379.1 | n.112G>A | non_coding_transcript_exon_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459260Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 725718
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
FOLR3-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Dec 06, 2023 | 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.