rs4935
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_003900.5(SQSTM1):c.876C>A(p.Asp292Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict 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. D292D) has been classified as Benign.
Frequency
Consequence
NM_003900.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SQSTM1 | NM_003900.5 | c.876C>A | p.Asp292Glu | missense_variant | 6/8 | ENST00000389805.9 | |
SQSTM1 | NM_001142298.2 | c.624C>A | p.Asp208Glu | missense_variant | 7/9 | ||
SQSTM1 | NM_001142299.2 | c.624C>A | p.Asp208Glu | missense_variant | 7/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SQSTM1 | ENST00000389805.9 | c.876C>A | p.Asp292Glu | missense_variant | 6/8 | 1 | NM_003900.5 | P1 | |
SQSTM1 | ENST00000360718.5 | c.624C>A | p.Asp208Glu | missense_variant | 5/7 | 1 | |||
SQSTM1 | ENST00000510187.5 | c.876C>A | p.Asp292Glu | missense_variant | 6/7 | 5 | |||
SQSTM1 | ENST00000466342.1 | n.575C>A | non_coding_transcript_exon_variant | 4/4 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.84e-7 AC: 1AN: 1461704Hom.: 0 Cov.: 64 AF XY: 0.00000138 AC XY: 1AN XY: 727142
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at