1-70417997-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001902.6(CTH):c.311G>A(p.Gly104Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,822 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 Uncertain significance (★).
Frequency
Consequence
NM_001902.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CTH | NM_001902.6 | c.311G>A | p.Gly104Glu | missense_variant | 3/12 | ENST00000370938.8 | NP_001893.2 | |
CTH | NM_153742.5 | c.311G>A | p.Gly104Glu | missense_variant | 3/11 | NP_714964.2 | ||
CTH | NM_001190463.2 | c.250+1960G>A | intron_variant | NP_001177392.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CTH | ENST00000370938.8 | c.311G>A | p.Gly104Glu | missense_variant | 3/12 | 1 | NM_001902.6 | ENSP00000359976.3 | ||
CTH | ENST00000346806.2 | c.311G>A | p.Gly104Glu | missense_variant | 3/11 | 1 | ENSP00000311554.2 | |||
CTH | ENST00000411986.6 | c.250+1960G>A | intron_variant | 2 | ENSP00000413407.2 | |||||
CTH | ENST00000464926.1 | n.394+1960G>A | intron_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461822Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727212
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 08, 2022 | The c.311G>A (p.G104E) alteration is located in exon 3 (coding exon 3) of the CTH gene. This alteration results from a G to A substitution at nucleotide position 311, causing the glycine (G) at amino acid position 104 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.