rs2229569
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000655.5(SELL):c.637C>T(p.Pro213Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.159 in 1,551,396 control chromosomes in the GnomAD database, including 21,682 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000655.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SELL | NM_000655.5 | c.637C>T | p.Pro213Ser | missense_variant | 5/9 | ENST00000236147.6 | |
SELL | NR_029467.2 | n.606C>T | non_coding_transcript_exon_variant | 3/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SELL | ENST00000236147.6 | c.637C>T | p.Pro213Ser | missense_variant | 5/9 | 1 | NM_000655.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.188 AC: 28514AN: 151962Hom.: 2937 Cov.: 32
GnomAD3 exomes AF: 0.206 AC: 32564AN: 157854Hom.: 3841 AF XY: 0.202 AC XY: 16773AN XY: 83192
GnomAD4 exome AF: 0.155 AC: 217436AN: 1399316Hom.: 18733 Cov.: 32 AF XY: 0.157 AC XY: 108635AN XY: 690218
GnomAD4 genome AF: 0.188 AC: 28571AN: 152080Hom.: 2949 Cov.: 32 AF XY: 0.190 AC XY: 14136AN XY: 74342
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at