chr1-167694268-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_052862.4(RCSD1):c.440C>A(p.Pro147His) variant causes a missense change. The variant allele was found at a frequency of 0.0000204 in 1,614,036 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 (★).
Frequency
Consequence
NM_052862.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RCSD1 | NM_052862.4 | c.440C>A | p.Pro147His | missense_variant | Exon 5 of 7 | ENST00000367854.8 | NP_443094.3 | |
RCSD1 | NM_001322923.2 | c.350C>A | p.Pro117His | missense_variant | Exon 4 of 6 | NP_001309852.1 | ||
RCSD1 | NM_001322924.2 | c.278C>A | p.Pro93His | missense_variant | Exon 3 of 5 | NP_001309853.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RCSD1 | ENST00000367854.8 | c.440C>A | p.Pro147His | missense_variant | Exon 5 of 7 | 1 | NM_052862.4 | ENSP00000356828.3 | ||
RCSD1 | ENST00000537350.5 | c.350C>A | p.Pro117His | missense_variant | Exon 4 of 6 | 1 | ENSP00000439409.1 | |||
RCSD1 | ENST00000361496.3 | c.368C>A | p.Pro123His | missense_variant | Exon 4 of 5 | 3 | ENSP00000355291.3 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152170Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000198 AC: 29AN: 1461866Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 727234
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152170Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.440C>A (p.P147H) alteration is located in exon 5 (coding exon 5) of the RCSD1 gene. This alteration results from a C to A substitution at nucleotide position 440, causing the proline (P) at amino acid position 147 to be replaced by a histidine (H). 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