12-108623152-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003006.4(SELPLG):āc.1156A>Gā(p.Lys386Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000137 in 1,459,052 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_003006.4 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 |
---|---|---|---|---|---|---|---|
SELPLG | NM_003006.4 | c.1156A>G | p.Lys386Glu | missense_variant | 2/2 | ENST00000550948.2 | |
SELPLG | NM_001206609.2 | c.1204A>G | p.Lys402Glu | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SELPLG | ENST00000550948.2 | c.1156A>G | p.Lys386Glu | missense_variant | 2/2 | 1 | NM_003006.4 | P2 | |
SELPLG | ENST00000228463.6 | c.1204A>G | p.Lys402Glu | missense_variant | 2/2 | 2 | A2 | ||
SELPLG | ENST00000388962.4 | c.1126A>G | p.Lys376Glu | missense_variant | 2/2 | 5 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1459052Hom.: 0 Cov.: 31 AF XY: 0.0000193 AC XY: 14AN XY: 725650
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 05, 2023 | The c.1156A>G (p.K386E) alteration is located in exon 2 (coding exon 1) of the SELPLG gene. This alteration results from a A to G substitution at nucleotide position 1156, causing the lysine (K) at amino acid position 386 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.