22-21469339-C-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
The NM_001388354.1(TMEM191C):c.656C>A(p.Ala219Glu) variant causes a missense 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 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM191C | ENST00000536718.3 | c.656C>A | p.Ala219Glu | missense_variant | Exon 8 of 10 | 5 | NM_001388354.1 | ENSP00000490781.2 |
Frequencies
GnomAD3 genomes Cov.: 13
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000203 AC: 2AN: 984792Hom.: 0 Cov.: 13 AF XY: 0.00000416 AC XY: 2AN XY: 481014
GnomAD4 genome Cov.: 13
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.791C>A (p.A264E) alteration is located in exon 7 (coding exon 7) of the TMEM191C gene. This alteration results from a C to A substitution at nucleotide position 791, causing the alanine (A) at amino acid position 264 to be replaced by a glutamic acid (E). 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.