rs863224894
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PP3_ModeratePP5_Moderate
The NM_006343.3(MERTK):c.2192T>C(p.Leu731Ser) variant causes a missense, splice region 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. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely pathogenic (★). Synonymous variant affecting the same amino acid position (i.e. L731L) has been classified as Likely benign.
Frequency
Consequence
NM_006343.3 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MERTK | NM_006343.3 | c.2192T>C | p.Leu731Ser | missense_variant, splice_region_variant | 17/19 | ENST00000295408.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MERTK | ENST00000295408.9 | c.2192T>C | p.Leu731Ser | missense_variant, splice_region_variant | 17/19 | 1 | NM_006343.3 | P1 | |
MERTK | ENST00000439966.5 | c.*1665T>C | splice_region_variant, 3_prime_UTR_variant, NMD_transcript_variant | 17/19 | 1 | ||||
MERTK | ENST00000409780.5 | c.1664T>C | p.Leu555Ser | missense_variant, splice_region_variant | 16/18 | 5 | |||
MERTK | ENST00000449344.2 | c.164T>C | p.Leu55Ser | missense_variant, splice_region_variant | 3/5 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Retinitis pigmentosa 38 Pathogenic:1
Likely pathogenic, criteria provided, single submitter | clinical testing | UCLA Clinical Genomics Center, UCLA | Sep 10, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at