7-7238519-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_020156.5(C1GALT1):c.485C>G(p.Ala162Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000041 in 1,461,810 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020156.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
C1GALT1 | NM_020156.5 | c.485C>G | p.Ala162Gly | missense_variant | Exon 3 of 4 | ENST00000436587.7 | NP_064541.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
C1GALT1 | ENST00000436587.7 | c.485C>G | p.Ala162Gly | missense_variant | Exon 3 of 4 | 5 | NM_020156.5 | ENSP00000389176.2 | ||
C1GALT1 | ENST00000223122.4 | c.485C>G | p.Ala162Gly | missense_variant | Exon 2 of 3 | 1 | ENSP00000223122.2 | |||
C1GALT1 | ENST00000402468.3 | c.485C>G | p.Ala162Gly | missense_variant | Exon 2 of 2 | 1 | ENSP00000384550.3 | |||
C1GALT1 | ENST00000429911.5 | c.*91C>G | downstream_gene_variant | 5 | ENSP00000407666.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000410 AC: 6AN: 1461810Hom.: 0 Cov.: 32 AF XY: 0.00000413 AC XY: 3AN XY: 727194
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.485C>G (p.A162G) alteration is located in exon 3 (coding exon 2) of the C1GALT1 gene. This alteration results from a C to G substitution at nucleotide position 485, causing the alanine (A) at amino acid position 162 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.