1-204954349-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BS1_Supporting
The NM_001005388.3(NFASC):c.377C>T(p.Thr126Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000279 in 1,614,016 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T126A) has been classified as Uncertain significance.
Frequency
Consequence
NM_001005388.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NFASC | NM_001005388.3 | c.377C>T | p.Thr126Met | missense_variant | 6/30 | ENST00000339876.11 | NP_001005388.2 | |
NFASC | NM_001160331.2 | c.359C>T | p.Thr120Met | missense_variant | 4/28 | ENST00000539706.6 | NP_001153803.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NFASC | ENST00000339876.11 | c.377C>T | p.Thr126Met | missense_variant | 6/30 | 5 | NM_001005388.3 | ENSP00000344786.6 | ||
NFASC | ENST00000539706.6 | c.359C>T | p.Thr120Met | missense_variant | 4/28 | 5 | NM_001160331.2 | ENSP00000438614.2 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152194Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000518 AC: 13AN: 251138Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135764
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1461822Hom.: 0 Cov.: 32 AF XY: 0.0000206 AC XY: 15AN XY: 727208
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152194Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74342
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | Nov 30, 2022 | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at