chr1-114776441-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_025073.3(SIKE1):c.427G>A(p.Asp143Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,458,496 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. D143H) has been classified 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SIKE1 | NM_025073.3 | c.427G>A | p.Asp143Asn | missense_variant | Exon 4 of 5 | ENST00000060969.6 | NP_079349.2 | |
SIKE1 | NM_001102396.2 | c.439G>A | p.Asp147Asn | missense_variant | Exon 4 of 5 | NP_001095866.1 | ||
SIKE1 | NR_049741.2 | n.567G>A | non_coding_transcript_exon_variant | Exon 4 of 5 | ||||
SIKE1 | NR_049742.2 | n.399G>A | non_coding_transcript_exon_variant | Exon 3 of 4 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251250Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135830
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1458496Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 725792
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at