rs149005559
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_ModerateBP6_Moderate
The NM_014334.4(FRRS1L):c.395T>C(p.Val132Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000967 in 1,613,424 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V132I) has been classified as Uncertain significance.
Frequency
Consequence
NM_014334.4 missense
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 |
---|---|---|---|---|---|---|---|
FRRS1L | NM_014334.4 | c.395T>C | p.Val132Ala | missense_variant | 3/5 | ENST00000561981.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FRRS1L | ENST00000561981.5 | c.395T>C | p.Val132Ala | missense_variant | 3/5 | 1 | NM_014334.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000473 AC: 72AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000151 AC: 38AN: 251448Hom.: 0 AF XY: 0.0000736 AC XY: 10AN XY: 135888
GnomAD4 exome AF: 0.0000575 AC: 84AN: 1461144Hom.: 0 Cov.: 29 AF XY: 0.0000399 AC XY: 29AN XY: 726938
GnomAD4 genome ? AF: 0.000473 AC: 72AN: 152280Hom.: 0 Cov.: 32 AF XY: 0.000443 AC XY: 33AN XY: 74470
ClinVar
Submissions by phenotype
Developmental and epileptic encephalopathy, 37 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 28, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at