rs200097822
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024712.5(ELMO3):c.241C>G(p.Pro81Ala) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000123 in 1,613,606 control chromosomes in the GnomAD database, with no homozygous occurrence. 2/2 splice prediction tools predict no significant impact on normal splicing. 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. P81S) has been classified as Uncertain significance.
Frequency
Consequence
NM_024712.5 missense, splice_region
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 |
---|---|---|---|---|---|---|---|---|
ELMO3 | NM_024712.5 | c.241C>G | p.Pro81Ala | missense_variant, splice_region_variant | Exon 4 of 20 | ENST00000393997.8 | NP_078988.3 | |
ELMO3 | XR_007064916.1 | n.437C>G | splice_region_variant, non_coding_transcript_exon_variant | Exon 4 of 17 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000644 AC: 16AN: 248256Hom.: 0 AF XY: 0.0000815 AC XY: 11AN XY: 134966
GnomAD4 exome AF: 0.000133 AC: 194AN: 1461400Hom.: 0 Cov.: 35 AF XY: 0.000129 AC XY: 94AN XY: 727000
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.400C>G (p.P134A) alteration is located in exon 4 (coding exon 4) of the ELMO3 gene. This alteration results from a C to G substitution at nucleotide position 400, causing the proline (P) at amino acid position 134 to be replaced by an alanine (A). 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