chr11-72139116-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_000804.4(FOLR3):c.324G>C(p.Glu108Asp) variant causes a missense change. The variant allele was found at a frequency of 0.00121 in 1,613,886 control chromosomes in the GnomAD database, including 27 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E108Q) has been classified as Benign.
Frequency
Consequence
NM_000804.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOLR3 | NM_000804.4 | c.324G>C | p.Glu108Asp | missense_variant | 3/5 | ENST00000611028.3 | |
FOLR3 | NR_178088.1 | n.502G>C | non_coding_transcript_exon_variant | 3/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOLR3 | ENST00000611028.3 | c.324G>C | p.Glu108Asp | missense_variant | 3/5 | 1 | NM_000804.4 | P1 | |
FOLR3 | ENST00000612844.4 | c.452G>C | p.Ser151Thr | missense_variant, NMD_transcript_variant | 3/5 | 1 | |||
FOLR3 | ENST00000622388.4 | c.324G>C | p.Glu108Asp | missense_variant | 4/6 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00646 AC: 983AN: 152212Hom.: 15 Cov.: 32
GnomAD3 exomes AF: 0.00159 AC: 397AN: 250462Hom.: 3 AF XY: 0.00122 AC XY: 165AN XY: 135496
GnomAD4 exome AF: 0.000663 AC: 969AN: 1461556Hom.: 12 Cov.: 34 AF XY: 0.000565 AC XY: 411AN XY: 727064
GnomAD4 genome ? AF: 0.00648 AC: 987AN: 152330Hom.: 15 Cov.: 32 AF XY: 0.00619 AC XY: 461AN XY: 74492
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | May 21, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at