22-21467436-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001388354.1(TMEM191C):c.-24C>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001388354.1 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM191C | ENST00000536718 | c.-24C>T | 5_prime_UTR_variant | Exon 1 of 10 | 5 | NM_001388354.1 | ENSP00000490781.2 |
Frequencies
GnomAD3 genomes Cov.: 5
GnomAD4 exome Cov.: 3
GnomAD4 genome Cov.: 5
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.118C>T (p.H40Y) alteration is located in exon 1 (coding exon 1) of the TMEM191C gene. This alteration results from a C to T substitution at nucleotide position 118, causing the histidine (H) at amino acid position 40 to be replaced by a tyrosine (Y). 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.