rs2255336
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_007360.4(KLRK1):c.214A>T(p.Thr72Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/19 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. T72A) has been classified as Likely benign.
Frequency
Consequence
NM_007360.4 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 |
---|---|---|---|---|---|---|---|
KLRK1 | NM_007360.4 | c.214A>T | p.Thr72Ser | missense_variant | 4/8 | ENST00000240618.11 | |
KLRC4-KLRK1 | NM_001199805.1 | c.214A>T | p.Thr72Ser | missense_variant | 9/13 | ||
KLRK1-AS1 | NR_120430.1 | n.393T>A | non_coding_transcript_exon_variant | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KLRK1 | ENST00000240618.11 | c.214A>T | p.Thr72Ser | missense_variant | 4/8 | 1 | NM_007360.4 | P1 | |
KLRK1-AS1 | ENST00000500682.1 | n.393T>A | non_coding_transcript_exon_variant | 3/4 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1459100Hom.: 0 Cov.: 45 AF XY: 0.00 AC XY: 0AN XY: 725698
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at