7-36855687-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014800.11(ELMO1):c.2048G>A(p.Arg683Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000166 in 1,613,964 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. 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. R683W) has been classified as Uncertain significance.
Frequency
Consequence
NM_014800.11 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000251 AC: 63AN: 251184Hom.: 0 AF XY: 0.000250 AC XY: 34AN XY: 135742
GnomAD4 exome AF: 0.000171 AC: 250AN: 1461818Hom.: 0 Cov.: 30 AF XY: 0.000162 AC XY: 118AN XY: 727216
GnomAD4 genome AF: 0.000118 AC: 18AN: 152146Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2048G>A (p.R683Q) alteration is located in exon 22 (coding exon 21) of the ELMO1 gene. This alteration results from a G to A substitution at nucleotide position 2048, causing the arginine (R) at amino acid position 683 to be replaced by a glutamine (Q). 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