rs773017713
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005506.4(SCARB2):c.580G>T(p.Asp194Tyr) variant causes a missense change involving the alteration of a non-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. D194N) has been classified as Likely benign.
Frequency
Consequence
NM_005506.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SCARB2 | NM_005506.4 | c.580G>T | p.Asp194Tyr | missense_variant | 4/12 | ENST00000264896.8 | |
SCARB2 | XM_047416429.1 | c.106G>T | p.Asp36Tyr | missense_variant | 4/12 | ||
SCARB2 | XM_047416430.1 | c.106G>T | p.Asp36Tyr | missense_variant | 4/12 | ||
SCARB2 | NM_001204255.2 | c.276-3639G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SCARB2 | ENST00000264896.8 | c.580G>T | p.Asp194Tyr | missense_variant | 4/12 | 1 | NM_005506.4 | P4 | |
ENST00000651366.1 | n.103-20417C>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at