NM_002334.4:c.5672C>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002334.4(LRP4):c.5672C>G(p.Thr1891Arg) variant causes a missense change involving the alteration of a 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. T1891M) has been classified as Uncertain significance.
Frequency
Consequence
NM_002334.4 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 |
---|---|---|---|---|---|---|---|---|---|---|
LRP4 | ENST00000378623.6 | c.5672C>G | p.Thr1891Arg | missense_variant | Exon 38 of 38 | 1 | NM_002334.4 | ENSP00000367888.1 | ||
LRP4 | ENST00000529604.1 | n.615C>G | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 | |||||
LRP4-AS1 | ENST00000502049.3 | n.192+12312G>C | intron_variant | Intron 2 of 2 | 2 | |||||
LRP4-AS1 | ENST00000531719.5 | n.291+6083G>C | intron_variant | Intron 3 of 3 | 4 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 31
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.