rs4253301
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000892.5(KLKB1):c.1141T>A(p.Ser381Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,458,604 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/19 in silico tools predict a benign outcome for this variant. 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. S381A) has been classified as Benign.
Frequency
Consequence
NM_000892.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KLKB1 | NM_000892.5 | c.1141T>A | p.Ser381Thr | missense_variant | 10/15 | ENST00000264690.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KLKB1 | ENST00000264690.11 | c.1141T>A | p.Ser381Thr | missense_variant | 10/15 | 1 | NM_000892.5 | P1 | |
KLKB1 | ENST00000511406.5 | n.1202T>A | non_coding_transcript_exon_variant | 10/15 | 1 | ||||
KLKB1 | ENST00000513864.2 | c.1027T>A | p.Ser343Thr | missense_variant | 11/15 | 2 | |||
KLKB1 | ENST00000467271.1 | n.570T>A | non_coding_transcript_exon_variant | 3/4 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250684Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135560
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1458604Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 725870
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at