1-114780454-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_025073.3(SIKE1):c.154G>C(p.Asp52His) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,460,614 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_025073.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SIKE1 | NM_025073.3 | c.154G>C | p.Asp52His | missense_variant | Exon 1 of 5 | ENST00000060969.6 | NP_079349.2 | |
SIKE1 | NM_001102396.2 | c.154G>C | p.Asp52His | missense_variant | Exon 1 of 5 | NP_001095866.1 | ||
SIKE1 | NR_049741.2 | n.232G>C | non_coding_transcript_exon_variant | Exon 1 of 5 | ||||
SIKE1 | NR_049742.2 | n.232G>C | non_coding_transcript_exon_variant | Exon 1 of 4 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000803 AC: 2AN: 249146Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135236
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460614Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726600
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.154G>C (p.D52H) alteration is located in exon 1 (coding exon 1) of the SIKE1 gene. This alteration results from a G to C substitution at nucleotide position 154, causing the aspartic acid (D) at amino acid position 52 to be replaced by a histidine (H). 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