rs1301168675
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001190766.2(STMND1):āc.461A>Cā(p.Lys154Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000145 in 1,383,734 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K154I) has been classified as Uncertain significance.
Frequency
Consequence
NM_001190766.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
STMND1 | ENST00000536551.6 | c.461A>C | p.Lys154Thr | missense_variant | Exon 4 of 5 | 5 | NM_001190766.2 | ENSP00000455698.1 | ||
STMND1 | ENST00000354384.5 | c.437A>C | p.Lys146Thr | missense_variant | Exon 4 of 5 | 5 | ENSP00000454363.1 | |||
STMND1 | ENST00000366215.2 | n.1224A>C | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000145 AC: 2AN: 1383734Hom.: 0 Cov.: 30 AF XY: 0.00000146 AC XY: 1AN XY: 682804
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.