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):āc.2266A>Cā(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 (ā ). 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