1-202966783-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016243.3(CYB5R1):c.131A>T(p.Asn44Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. N44S) has been classified as Likely benign.
Frequency
Consequence
NM_016243.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYB5R1 | NM_016243.3 | c.131A>T | p.Asn44Ile | missense_variant | 2/9 | ENST00000367249.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYB5R1 | ENST00000367249.9 | c.131A>T | p.Asn44Ile | missense_variant | 2/9 | 1 | NM_016243.3 | P1 | |
CYB5R1 | ENST00000473599.5 | n.201A>T | non_coding_transcript_exon_variant | 2/5 | 3 | ||||
CYB5R1 | ENST00000478009.1 | n.151A>T | non_coding_transcript_exon_variant | 2/3 | 2 | ||||
CYB5R1 | ENST00000482572.5 | n.169A>T | non_coding_transcript_exon_variant | 2/8 | 5 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at