NM_000515.5:c.236G>A
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_Strong
The NM_000515.5(GH1):c.236G>A(p.Cys79Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,870 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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. C79S) has been classified as Pathogenic.
Frequency
Consequence
NM_000515.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GH1 | NM_000515.5 | c.236G>A | p.Cys79Tyr | missense_variant | Exon 3 of 5 | ENST00000323322.10 | NP_000506.2 | |
GH1 | NM_022559.4 | c.191G>A | p.Cys64Tyr | missense_variant | Exon 3 of 5 | NP_072053.1 | ||
GH1 | NM_022560.4 | c.172-148G>A | intron_variant | Intron 2 of 3 | NP_072054.1 | |||
LOC112268204 | XR_002958148.2 | n.*146C>T | downstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GH1 | ENST00000323322.10 | c.236G>A | p.Cys79Tyr | missense_variant | Exon 3 of 5 | 1 | NM_000515.5 | ENSP00000312673.5 | ||
ENSG00000285947 | ENST00000647774.1 | c.512G>A | p.Cys171Tyr | missense_variant | Exon 6 of 8 | ENSP00000497443.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461870Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 727234
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.