chr1-74733362-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_138467.3(TYW3):c.118C>G(p.Arg40Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138467.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TYW3 | NM_138467.3 | c.118C>G | p.Arg40Gly | missense_variant | Exon 1 of 6 | ENST00000370867.8 | NP_612476.1 | |
TYW3 | NM_001162916.2 | c.118C>G | p.Arg40Gly | missense_variant | Exon 1 of 5 | NP_001156388.1 | ||
TYW3 | XM_006710347.3 | c.118C>G | p.Arg40Gly | missense_variant | Exon 1 of 7 | XP_006710410.1 | ||
TYW3 | NR_027962.2 | n.211C>G | non_coding_transcript_exon_variant | Exon 1 of 6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TYW3 | ENST00000370867.8 | c.118C>G | p.Arg40Gly | missense_variant | Exon 1 of 6 | 1 | NM_138467.3 | ENSP00000359904.3 | ||
CRYZ | ENST00000417775.5 | c.-459G>C | 5_prime_UTR_variant | Exon 1 of 10 | 1 | ENSP00000399805.1 | ||||
TYW3 | ENST00000457880.6 | c.118C>G | p.Arg40Gly | missense_variant | Exon 1 of 5 | 2 | ENSP00000407025.2 | |||
TYW3 | ENST00000479111 | c.-308C>G | 5_prime_UTR_variant | Exon 1 of 7 | 3 | ENSP00000477469.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.118C>G (p.R40G) alteration is located in exon 1 (coding exon 1) of the TYW3 gene. This alteration results from a C to G substitution at nucleotide position 118, causing the arginine (R) at amino acid position 40 to be replaced by a glycine (G). 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.