NM_000231.3:c.530A>G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_000231.3(SGCG):c.530A>G(p.His177Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,808 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H177N) has been classified as Uncertain significance.
Frequency
Consequence
NM_000231.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SGCG | ENST00000218867.4 | c.530A>G | p.His177Arg | missense_variant | Exon 6 of 8 | 1 | NM_000231.3 | ENSP00000218867.3 | ||
SACS | ENST00000683210.1 | c.2186-6196T>C | intron_variant | Intron 9 of 9 | ENSP00000506739.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461808Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727206
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at