1-32014308-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006559.3(KHDRBS1):c.313C>T(p.Pro105Ser) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006559.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KHDRBS1 | ENST00000327300.12 | c.313C>T | p.Pro105Ser | missense_variant | Exon 1 of 9 | 1 | NM_006559.3 | ENSP00000313829.7 | ||
KHDRBS1 | ENST00000492989.1 | c.313C>T | p.Pro105Ser | missense_variant | Exon 1 of 8 | 1 | ENSP00000417731.1 | |||
KHDRBS1 | ENST00000307714.12 | n.383C>T | non_coding_transcript_exon_variant | Exon 1 of 9 | 1 | |||||
KHDRBS1 | ENST00000484270.2 | n.127C>T | non_coding_transcript_exon_variant | Exon 1 of 11 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1406708Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 696696
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.313C>T (p.P105S) alteration is located in exon 1 (coding exon 1) of the KHDRBS1 gene. This alteration results from a C to T substitution at nucleotide position 313, causing the proline (P) at amino acid position 105 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.