12-96267105-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005230.4(ELK3):c.1149C>A(p.His383Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000238 in 1,613,374 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005230.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ELK3 | NM_005230.4 | c.1149C>A | p.His383Gln | missense_variant | 5/5 | ENST00000228741.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ELK3 | ENST00000228741.8 | c.1149C>A | p.His383Gln | missense_variant | 5/5 | 1 | NM_005230.4 | P1 | |
ELK3 | ENST00000552142.5 | c.354C>A | p.His118Gln | missense_variant | 4/4 | 5 | |||
ELK3 | ENST00000549529.1 | n.238C>A | non_coding_transcript_exon_variant | 3/3 | 2 | ||||
ELK3 | ENST00000549985.1 | c.*125C>A | 3_prime_UTR_variant, NMD_transcript_variant | 4/4 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.000256 AC: 39AN: 152244Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000264 AC: 66AN: 250134Hom.: 0 AF XY: 0.000296 AC XY: 40AN XY: 135172
GnomAD4 exome AF: 0.000236 AC: 345AN: 1461130Hom.: 1 Cov.: 30 AF XY: 0.000256 AC XY: 186AN XY: 726830
GnomAD4 genome ? AF: 0.000256 AC: 39AN: 152244Hom.: 0 Cov.: 33 AF XY: 0.000161 AC XY: 12AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 09, 2022 | The c.1149C>A (p.H383Q) alteration is located in exon 5 (coding exon 4) of the ELK3 gene. This alteration results from a C to A substitution at nucleotide position 1149, causing the histidine (H) at amino acid position 383 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