rs12833456
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_080747.3(KRT72):c.791A>T(p.Tyr264Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign 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. Y264C) has been classified as Likely benign.
Frequency
Consequence
NM_080747.3 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 |
---|---|---|---|---|---|---|---|
KRT72 | NM_080747.3 | c.791A>T | p.Tyr264Phe | missense_variant | 4/9 | ENST00000293745.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRT72 | ENST00000293745.7 | c.791A>T | p.Tyr264Phe | missense_variant | 4/9 | 1 | NM_080747.3 | P1 | |
KRT72 | ENST00000537672.6 | c.791A>T | p.Tyr264Phe | missense_variant | 4/10 | 2 | P1 | ||
KRT72 | ENST00000354310.4 | c.791A>T | p.Tyr264Phe | missense_variant | 4/8 | 2 | |||
KRT72 | ENST00000550829.1 | c.*480A>T | 3_prime_UTR_variant, NMD_transcript_variant | 5/10 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
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.