1-169593666-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_003005.4(SELP):c.2346G>A(p.Thr782Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.194 in 1,612,630 control chromosomes in the GnomAD database, including 39,575 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_003005.4 synonymous
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.2346G>A | p.Thr782Thr | synonymous_variant | Exon 14 of 17 | ENST00000263686.11 | NP_002996.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.282 AC: 42902AN: 151908Hom.: 7872 Cov.: 32
GnomAD3 exomes AF: 0.241 AC: 60380AN: 250966Hom.: 10178 AF XY: 0.229 AC XY: 31038AN XY: 135650
GnomAD4 exome AF: 0.185 AC: 270454AN: 1460606Hom.: 31683 Cov.: 31 AF XY: 0.183 AC XY: 132978AN XY: 726638
GnomAD4 genome AF: 0.283 AC: 42957AN: 152024Hom.: 7892 Cov.: 32 AF XY: 0.285 AC XY: 21207AN XY: 74298
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). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at