rs1057517670
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3PP5
The NM_003412.4(ZIC1):c.1198G>C(p.Gly400Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G400D) has been classified as Uncertain significance.
Frequency
Consequence
NM_003412.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZIC1 | NM_003412.4 | c.1198G>C | p.Gly400Arg | missense_variant | 3/3 | ENST00000282928.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZIC1 | ENST00000282928.5 | c.1198G>C | p.Gly400Arg | missense_variant | 3/3 | 1 | NM_003412.4 | P1 | |
ZIC1 | ENST00000488404.5 | c.265G>C | p.Gly89Arg | missense_variant | 3/3 | 5 | |||
ZIC1 | ENST00000472523.1 | n.521+19463G>C | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Craniosynostosis 6 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jan 15, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at