22-24543845-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001284254.2(GUCD1):c.625G>A(p.Asp209Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000286 in 1,613,658 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001284254.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GUCD1 | NM_001284254.2 | c.625G>A | p.Asp209Asn | missense_variant | Exon 5 of 6 | ENST00000435822.6 | NP_001271183.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000658 AC: 10AN: 152070Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000120 AC: 30AN: 250724Hom.: 0 AF XY: 0.000125 AC XY: 17AN XY: 135538
GnomAD4 exome AF: 0.000309 AC: 452AN: 1461470Hom.: 0 Cov.: 32 AF XY: 0.000322 AC XY: 234AN XY: 727000
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152188Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74404
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.625G>A (p.D209N) alteration is located in exon 5 (coding exon 5) of the GUCD1 gene. This alteration results from a G to A substitution at nucleotide position 625, causing the aspartic acid (D) at amino acid position 209 to be replaced by an asparagine (N). 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