NM_018273.4:c.1304G>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018273.4(TMEM143):c.1304G>A(p.Gly435Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000021 in 1,426,452 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G435A) has been classified as Uncertain significance.
Frequency
Consequence
NM_018273.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM143 | ENST00000293261.8 | c.1304G>A | p.Gly435Asp | missense_variant | Exon 8 of 8 | 1 | NM_018273.4 | ENSP00000293261.2 | ||
TMEM143 | ENST00000377431.6 | c.1004G>A | p.Gly335Asp | missense_variant | Exon 6 of 6 | 1 | ENSP00000366649.1 | |||
TMEM143 | ENST00000435956.7 | c.1199G>A | p.Gly400Asp | missense_variant | Exon 7 of 7 | 2 | ENSP00000397038.2 | |||
TMEM143 | ENST00000600816.1 | n.791G>A | non_coding_transcript_exon_variant | Exon 3 of 3 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000210 AC: 3AN: 1426452Hom.: 0 Cov.: 30 AF XY: 0.00000424 AC XY: 3AN XY: 707722
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.