13-77591448-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_144777.3(SCEL):āc.680A>Gā(p.Glu227Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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 (ā ).
Frequency
Consequence
NM_144777.3 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 |
---|---|---|---|---|---|---|---|
SCEL | NM_144777.3 | c.680A>G | p.Glu227Gly | missense_variant | 11/33 | ENST00000349847.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SCEL | ENST00000349847.4 | c.680A>G | p.Glu227Gly | missense_variant | 11/33 | 1 | NM_144777.3 | P2 | |
SCEL | ENST00000377246.7 | c.680A>G | p.Glu227Gly | missense_variant | 11/32 | 1 | A2 | ||
SCEL | ENST00000535157.5 | c.614A>G | p.Glu205Gly | missense_variant | 10/31 | 2 | A2 | ||
SCEL | ENST00000471491.5 | c.611A>G | p.Glu204Gly | missense_variant, NMD_transcript_variant | 10/19 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1407566Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 703396
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 17, 2021 | The c.680A>G (p.E227G) alteration is located in exon 11 (coding exon 10) of the SCEL gene. This alteration results from a A to G substitution at nucleotide position 680, causing the glutamic acid (E) at amino acid position 227 to be replaced by a glycine (G). 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.