11-497995-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_203387.3(RNH1):c.1103C>T(p.Pro368Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000512 in 1,613,822 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_203387.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RNH1 | NM_203387.3 | c.1103C>T | p.Pro368Leu | missense_variant | Exon 9 of 11 | ENST00000354420.7 | NP_976321.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000243 AC: 37AN: 152288Hom.: 0 Cov.: 35
GnomAD3 exomes AF: 0.000164 AC: 41AN: 250678Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135510
GnomAD4 exome AF: 0.000541 AC: 790AN: 1461534Hom.: 0 Cov.: 32 AF XY: 0.000528 AC XY: 384AN XY: 727072
GnomAD4 genome AF: 0.000243 AC: 37AN: 152288Hom.: 0 Cov.: 35 AF XY: 0.000188 AC XY: 14AN XY: 74406
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1103C>T (p.P368L) alteration is located in exon 9 (coding exon 7) of the RNH1 gene. This alteration results from a C to T substitution at nucleotide position 1103, causing the proline (P) at amino acid position 368 to be replaced by a leucine (L). 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