1-999127-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021170.4(HES4):āc.598G>Cā(p.Ala200Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000246 in 1,217,174 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A200V) has been classified as Uncertain significance.
Frequency
Consequence
NM_021170.4 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 |
---|---|---|---|---|---|---|---|
HES4 | NM_021170.4 | c.598G>C | p.Ala200Pro | missense_variant | 4/4 | ENST00000304952.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HES4 | ENST00000304952.11 | c.598G>C | p.Ala200Pro | missense_variant | 4/4 | 1 | NM_021170.4 | P1 | |
HES4 | ENST00000428771.6 | c.676G>C | p.Ala226Pro | missense_variant | 3/3 | 2 | |||
HES4 | ENST00000484667.2 | c.502G>C | p.Ala168Pro | missense_variant | 3/3 | 3 | |||
HES4 | ENST00000481869.1 | n.877G>C | non_coding_transcript_exon_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151658Hom.: 0 Cov.: 34
GnomAD4 exome AF: 9.39e-7 AC: 1AN: 1065408Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 503580
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151766Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74188
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at