9-5300316-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_134441.3(RLN2):āc.340C>Gā(p.Gln114Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,150 control chromosomes in the GnomAD database, with no homozygous occurrence. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_134441.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RLN2 | NM_134441.3 | c.340C>G | p.Gln114Glu | missense_variant | 2/2 | ENST00000381627.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RLN2 | ENST00000381627.4 | c.340C>G | p.Gln114Glu | missense_variant | 2/2 | 1 | NM_134441.3 | P1 | |
RLN2 | ENST00000416837.1 | c.*87C>G | 3_prime_UTR_variant | 3/3 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461150Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726922
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 09, 2023 | The c.340C>G (p.Q114E) alteration is located in exon 2 (coding exon 2) of the RLN2 gene. This alteration results from a C to G substitution at nucleotide position 340, causing the glutamine (Q) at amino acid position 114 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.