rs2228315
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_003006.4(SELPLG):c.186G>A(p.Met62Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0843 in 1,614,010 control chromosomes in the GnomAD database, including 8,858 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_003006.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SELPLG | NM_003006.4 | c.186G>A | p.Met62Ile | missense_variant | 2/2 | ENST00000550948.2 | |
SELPLG | NM_001206609.2 | c.234G>A | p.Met78Ile | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SELPLG | ENST00000550948.2 | c.186G>A | p.Met62Ile | missense_variant | 2/2 | 1 | NM_003006.4 | P2 | |
SELPLG | ENST00000228463.6 | c.234G>A | p.Met78Ile | missense_variant | 2/2 | 2 | A2 | ||
SELPLG | ENST00000388962.4 | c.186G>A | p.Met62Ile | missense_variant | 1/2 | 5 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.140 AC: 21285AN: 152044Hom.: 2301 Cov.: 32
GnomAD3 exomes AF: 0.113 AC: 28525AN: 251428Hom.: 2505 AF XY: 0.104 AC XY: 14139AN XY: 135886
GnomAD4 exome AF: 0.0784 AC: 114658AN: 1461848Hom.: 6550 Cov.: 34 AF XY: 0.0770 AC XY: 55980AN XY: 727232
GnomAD4 genome ? AF: 0.140 AC: 21331AN: 152162Hom.: 2308 Cov.: 32 AF XY: 0.139 AC XY: 10306AN XY: 74396
ClinVar
Submissions by phenotype
SELPLG-related condition Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Nov 04, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at