NM_001384910.1:c.567C>A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001384910.1(GUCA1A):c.567C>A(p.Asp189Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,458,922 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in ClinVar. Synonymous variant affecting the same amino acid position (i.e. D189D) has been classified as Likely benign.
Frequency
Consequence
NM_001384910.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GUCA1A | NM_001384910.1 | c.567C>A | p.Asp189Glu | missense_variant | Exon 4 of 4 | ENST00000372958.2 | NP_001371839.1 | |
GUCA1ANB-GUCA1A | NM_000409.5 | c.567C>A | p.Asp189Glu | missense_variant | Exon 6 of 6 | NP_000400.2 | ||
GUCA1ANB-GUCA1A | NM_001319061.2 | c.567C>A | p.Asp189Glu | missense_variant | Exon 6 of 6 | NP_001305990.1 | ||
GUCA1ANB-GUCA1A | NM_001319062.2 | c.567C>A | p.Asp189Glu | missense_variant | Exon 5 of 5 | NP_001305991.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GUCA1A | ENST00000372958.2 | c.567C>A | p.Asp189Glu | missense_variant | Exon 4 of 4 | 1 | NM_001384910.1 | ENSP00000362049.1 | ||
ENSG00000290147 | ENST00000654459.1 | c.567C>A | p.Asp189Glu | missense_variant | Exon 5 of 5 | ENSP00000499539.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1458922Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 725418
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.