rs3173615
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001134232.2(TMEM106B):c.554C>A(p.Thr185Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00000755 in 1,456,116 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. T185S) has been classified as Benign.
Frequency
Consequence
NM_001134232.2 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 | UniProt |
---|---|---|---|---|---|---|---|
TMEM106B | NM_001134232.2 | c.554C>A | p.Thr185Asn | missense_variant | 5/8 | ENST00000396668.8 | |
TMEM106B | NM_018374.4 | c.554C>A | p.Thr185Asn | missense_variant | 6/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM106B | ENST00000396668.8 | c.554C>A | p.Thr185Asn | missense_variant | 5/8 | 1 | NM_001134232.2 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000755 AC: 11AN: 1456116Hom.: 0 Cov.: 33 AF XY: 0.00000967 AC XY: 7AN XY: 724246
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at