chr5-156344576-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP3BP6_Moderate
The NM_000337.6(SGCD):āc.91C>Gā(p.Arg31Gly) variant causes a missense 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. Variant has been reported in ClinVar as Benign (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R31Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_000337.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SGCD | NM_000337.6 | c.91C>G | p.Arg31Gly | missense_variant | 3/9 | ENST00000337851.9 | |
LOC124901120 | XR_007059016.1 | n.234+2877G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SGCD | ENST00000337851.9 | c.91C>G | p.Arg31Gly | missense_variant | 3/9 | 1 | NM_000337.6 | P4 | |
SGCD | ENST00000435422.7 | c.88C>G | p.Arg30Gly | missense_variant | 2/8 | 1 | A1 | ||
SGCD | ENST00000517913.5 | c.91C>G | p.Arg31Gly | missense_variant | 5/10 | 5 | |||
SGCD | ENST00000524347.2 | c.91C>G | p.Arg31Gly | missense_variant, NMD_transcript_variant | 3/6 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000473 AC: 69AN: 1457452Hom.: 0 Cov.: 32 AF XY: 0.0000607 AC XY: 44AN XY: 724996
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | research | Biesecker Lab/Clinical Genomics Section, National Institutes of Health | Jun 24, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at