18-74291840-G-C
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PVS1_StrongPM2
The NM_148923.4(CYB5A):c.36C>G(p.Tyr12Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. Y12Y) has been classified as Benign.
Frequency
Consequence
NM_148923.4 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYB5A | NM_148923.4 | c.36C>G | p.Tyr12Ter | stop_gained | 1/5 | ENST00000340533.9 | |
CYB5A | NM_001190807.3 | c.36C>G | p.Tyr12Ter | stop_gained | 1/4 | ||
CYB5A | NM_001914.4 | c.36C>G | p.Tyr12Ter | stop_gained | 1/6 | ||
CYB5A | XM_011525835.3 | c.36C>G | p.Tyr12Ter | stop_gained | 1/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYB5A | ENST00000340533.9 | c.36C>G | p.Tyr12Ter | stop_gained | 1/5 | 1 | NM_148923.4 | P1 | |
CYB5A | ENST00000494131.6 | c.36C>G | p.Tyr12Ter | stop_gained | 1/6 | 1 | |||
CYB5A | ENST00000397914.4 | c.36C>G | p.Tyr12Ter | stop_gained | 1/4 | 3 | |||
CYB5A | ENST00000583418.1 | n.118C>G | non_coding_transcript_exon_variant | 1/4 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at