1-25617939-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_020379.4(MAN1C1):c.142C>A(p.Arg48Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. R48L) has been classified as Uncertain significance.
Frequency
Consequence
NM_020379.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MAN1C1 | ENST00000374332.9 | c.142C>A | p.Arg48Ser | missense_variant | Exon 1 of 12 | 1 | NM_020379.4 | ENSP00000363452.4 | ||
MAN1C1 | ENST00000263979 | c.-524C>A | 5_prime_UTR_variant | Exon 1 of 13 | 5 | ENSP00000263979.3 | ||||
MAN1C1 | ENST00000611903 | c.-489C>A | 5_prime_UTR_variant | Exon 1 of 14 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.142C>A (p.R48S) alteration is located in exon 1 (coding exon 1) of the MAN1C1 gene. This alteration results from a C to A substitution at nucleotide position 142, causing the arginine (R) at amino acid position 48 to be replaced by a serine (S). 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.