rs181591912
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001384474.1(LOXHD1):c.2871G>C(p.Ser957Ser) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S957S) has been classified as Benign.
Frequency
Consequence
NM_001384474.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOXHD1 | NM_001384474.1 | c.2871G>C | p.Ser957Ser | synonymous_variant | 19/41 | ENST00000642948.1 | NP_001371403.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LOXHD1 | ENST00000642948.1 | c.2871G>C | p.Ser957Ser | synonymous_variant | 19/41 | NM_001384474.1 | ENSP00000496347.1 | |||
LOXHD1 | ENST00000536736.5 | c.2871G>C | p.Ser957Ser | synonymous_variant | 19/40 | 5 | ENSP00000444586.1 | |||
LOXHD1 | ENST00000441551.6 | c.2599-2784G>C | intron_variant | 5 | ENSP00000387621.2 | |||||
LOXHD1 | ENST00000335730.6 | n.2184G>C | non_coding_transcript_exon_variant | 12/27 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 37
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at