chr1-147908106-G-C
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_Strong
The NM_005267.5(GJA8):c.151G>C(p.Asp51His) 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 Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D51N) has been classified as Likely pathogenic.
Frequency
Consequence
NM_005267.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GJA8 | NM_005267.5 | c.151G>C | p.Asp51His | missense_variant | 2/2 | ENST00000369235.2 | |
GJA8 | XM_011509417.3 | c.151G>C | p.Asp51His | missense_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GJA8 | ENST00000369235.2 | c.151G>C | p.Asp51His | missense_variant | 2/2 | NM_005267.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Microphthalmia and cataract Uncertain:1
Uncertain significance, no assertion criteria provided | clinical testing | Lilac Insights Private Limited | Sep 21, 2016 | - - |
Cataract 1 multiple types Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Lilac Insights Private Limited | Sep 21, 2016 | This variant has been previously detected in a heterozygous state in the father who exhibited features of micropthalmia and unilateral cataract and in the older child harbouring Bilateral Microphthalmia and cataract with complete blindness. This variant has been labelled as 'variant of unknown significance with probable damaging effect' (VUSD). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at