rs1805049
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_206933.4(USH2A):c.4457G>T(p.Arg1486Met) 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. 15/21 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. R1486K) has been classified as Benign.
Frequency
Consequence
NM_206933.4 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 |
---|---|---|---|---|---|---|---|
USH2A | NM_206933.4 | c.4457G>T | p.Arg1486Met | missense_variant | 21/72 | ENST00000307340.8 | |
USH2A | NM_007123.6 | c.4457G>T | p.Arg1486Met | missense_variant | 21/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
USH2A | ENST00000307340.8 | c.4457G>T | p.Arg1486Met | missense_variant | 21/72 | 1 | NM_206933.4 | P1 | |
USH2A | ENST00000366942.3 | c.4457G>T | p.Arg1486Met | missense_variant | 21/21 | 1 | |||
USH2A | ENST00000674083.1 | c.4457G>T | p.Arg1486Met | missense_variant | 21/73 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 71
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at