chr4-76161738-T-C
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_005506.4(SCARB2):c.1412A>G(p.Glu471Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000684 in 1,461,872 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as not provided (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E471V) has been classified as Uncertain significance.
Frequency
Consequence
NM_005506.4 missense
Scores
Clinical Significance
Conservation
Publications
- action myoclonus-renal failure syndromeInheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Ambry Genetics, Orphanet, Labcorp Genetics (formerly Invitae)
- progressive myoclonus epilepsyInheritance: AR Classification: DEFINITIVE Submitted by: ClinGen
- Unverricht-Lundborg syndromeInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SCARB2 | NM_005506.4 | c.1412A>G | p.Glu471Gly | missense_variant | Exon 12 of 12 | ENST00000264896.8 | NP_005497.1 | |
SCARB2 | NM_001204255.2 | c.983A>G | p.Glu328Gly | missense_variant | Exon 9 of 9 | NP_001191184.1 | ||
SCARB2 | XM_047416429.1 | c.938A>G | p.Glu313Gly | missense_variant | Exon 12 of 12 | XP_047272385.1 | ||
SCARB2 | XM_047416430.1 | c.938A>G | p.Glu313Gly | missense_variant | Exon 12 of 12 | XP_047272386.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD2 exomes AF: 0.00000399 AC: 1AN: 250596 AF XY: 0.00000738 show subpopulations
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461872Hom.: 0 Cov.: 30 AF XY: 0.00000963 AC XY: 7AN XY: 727248 show subpopulations
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Action myoclonus-renal failure syndrome Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at