19-48334133-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_018273.4(TMEM143):c.1040C>G(p.Thr347Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000112 in 1,607,590 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T347K) 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 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMEM143 | NM_018273.4 | c.1040C>G | p.Thr347Arg | missense_variant | 7/8 | ENST00000293261.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM143 | ENST00000293261.8 | c.1040C>G | p.Thr347Arg | missense_variant | 7/8 | 1 | NM_018273.4 | P1 | |
TMEM143 | ENST00000377431.6 | c.740C>G | p.Thr247Arg | missense_variant | 5/6 | 1 | |||
TMEM143 | ENST00000435956.7 | c.935C>G | p.Thr312Arg | missense_variant | 6/7 | 2 | |||
TMEM143 | ENST00000600816.1 | n.527C>G | non_coding_transcript_exon_variant | 2/3 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152220Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000172 AC: 4AN: 232962Hom.: 0 AF XY: 0.0000157 AC XY: 2AN XY: 127338
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1455370Hom.: 0 Cov.: 32 AF XY: 0.00000967 AC XY: 7AN XY: 723632
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152220Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 24, 2022 | The c.1040C>G (p.T347R) alteration is located in exon 7 (coding exon 7) of the TMEM143 gene. This alteration results from a C to G substitution at nucleotide position 1040, causing the threonine (T) at amino acid position 347 to be replaced by an arginine (R). 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