1-169594713-T-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_003005.4(SELP):c.2266A>C(p.Thr756Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.097 in 1,613,462 control chromosomes in the GnomAD database, including 8,585 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_003005.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SELP | NM_003005.4 | c.2266A>C | p.Thr756Pro | missense_variant | Exon 13 of 17 | ENST00000263686.11 | NP_002996.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0738 AC: 11228AN: 152150Hom.: 571 Cov.: 33
GnomAD3 exomes AF: 0.0821 AC: 20598AN: 250820Hom.: 1069 AF XY: 0.0818 AC XY: 11088AN XY: 135530
GnomAD4 exome AF: 0.0994 AC: 145263AN: 1461194Hom.: 8011 Cov.: 32 AF XY: 0.0974 AC XY: 70807AN XY: 726882
GnomAD4 genome AF: 0.0738 AC: 11237AN: 152268Hom.: 574 Cov.: 33 AF XY: 0.0732 AC XY: 5452AN XY: 74456
ClinVar
Submissions by phenotype
SELP-related disorder Benign:1
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). -
not provided Benign:1
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SELECTIN P POLYMORPHISM Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at