chr7-134127543-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_144648.3(LRGUK):c.176C>T(p.Ser59Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_144648.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LRGUK | ENST00000285928.3 | c.176C>T | p.Ser59Phe | missense_variant | Exon 1 of 20 | 1 | NM_144648.3 | ENSP00000285928.2 | ||
LRGUK | ENST00000695542.2 | c.176C>T | p.Ser59Phe | missense_variant | Exon 1 of 16 | ENSP00000511999.1 | ||||
LRGUK | ENST00000645682.1 | c.176C>T | p.Ser59Phe | missense_variant | Exon 1 of 16 | ENSP00000495637.1 | ||||
LRGUK | ENST00000473068.1 | n.186C>T | non_coding_transcript_exon_variant | Exon 1 of 4 | 2 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.176C>T (p.S59F) alteration is located in exon 1 (coding exon 1) of the LRGUK gene. This alteration results from a C to T substitution at nucleotide position 176, causing the serine (S) at amino acid position 59 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.