chr11-72139114-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP6_Moderate
The NM_000804.4(FOLR3):āc.322G>Cā(p.Glu108Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,164 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Benign (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E108D) has been classified as Benign.
Frequency
Consequence
NM_000804.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOLR3 | NM_000804.4 | c.322G>C | p.Glu108Gln | missense_variant | 3/5 | ENST00000611028.3 | |
FOLR3 | NR_178088.1 | n.500G>C | non_coding_transcript_exon_variant | 3/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOLR3 | ENST00000611028.3 | c.322G>C | p.Glu108Gln | missense_variant | 3/5 | 1 | NM_000804.4 | P1 | |
FOLR3 | ENST00000612844.4 | c.450G>C | p.Met150Ile | missense_variant, NMD_transcript_variant | 3/5 | 1 | |||
FOLR3 | ENST00000622388.4 | c.322G>C | p.Glu108Gln | missense_variant | 4/6 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461164Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 726870
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
FOLR3-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 16, 2019 | This variant is classified as 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