rs376764737
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_052862.4(RCSD1):c.438G>T(p.Gln146His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000131 in 152,148 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RCSD1 | NM_052862.4 | c.438G>T | p.Gln146His | missense_variant | Exon 5 of 7 | ENST00000367854.8 | NP_443094.3 | |
RCSD1 | NM_001322923.2 | c.348G>T | p.Gln116His | missense_variant | Exon 4 of 6 | NP_001309852.1 | ||
RCSD1 | NM_001322924.2 | c.276G>T | p.Gln92His | 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.438G>T | p.Gln146His | missense_variant | Exon 5 of 7 | 1 | NM_052862.4 | ENSP00000356828.3 | ||
RCSD1 | ENST00000537350.5 | c.348G>T | p.Gln116His | missense_variant | Exon 4 of 6 | 1 | ENSP00000439409.1 | |||
RCSD1 | ENST00000361496.3 | c.366G>T | p.Gln122His | missense_variant | Exon 4 of 5 | 3 | ENSP00000355291.3 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251236Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135792
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152148Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.438G>T (p.Q146H) alteration is located in exon 5 (coding exon 5) of the RCSD1 gene. This alteration results from a G to T substitution at nucleotide position 438, causing the glutamine (Q) at amino acid position 146 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