rs34270879
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_020799.4(STAMBPL1):c.610G>A(p.Glu204Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0351 in 1,613,922 control chromosomes in the GnomAD database, including 1,164 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 the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_020799.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
STAMBPL1 | ENST00000371926.8 | c.610G>A | p.Glu204Lys | missense_variant | 6/11 | 1 | NM_020799.4 | ENSP00000360994.3 | ||
STAMBPL1 | ENST00000371924.5 | c.610G>A | p.Glu204Lys | missense_variant | 5/10 | 1 | ENSP00000360992.1 | |||
STAMBPL1 | ENST00000371927.7 | c.610G>A | p.Glu204Lys | missense_variant | 6/11 | 2 | ENSP00000360995.3 | |||
STAMBPL1 | ENST00000371922.1 | n.935G>A | non_coding_transcript_exon_variant | 1/6 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0294 AC: 4475AN: 152208Hom.: 91 Cov.: 32
GnomAD3 exomes AF: 0.0305 AC: 7647AN: 250710Hom.: 171 AF XY: 0.0315 AC XY: 4274AN XY: 135506
GnomAD4 exome AF: 0.0357 AC: 52210AN: 1461596Hom.: 1073 Cov.: 31 AF XY: 0.0358 AC XY: 26027AN XY: 727106
GnomAD4 genome AF: 0.0294 AC: 4475AN: 152326Hom.: 91 Cov.: 32 AF XY: 0.0288 AC XY: 2145AN XY: 74492
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at