rs142351773
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_000180.4(GUCY2D):c.3297G>A(p.Pro1099=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0207 in 1,568,828 control chromosomes in the GnomAD database, including 439 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. P1099P) has been classified as Likely benign.
Frequency
Consequence
NM_000180.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GUCY2D | NM_000180.4 | c.3297G>A | p.Pro1099= | synonymous_variant | 19/20 | ENST00000254854.5 | |
GUCY2D | XM_011523816.2 | c.3297G>A | p.Pro1099= | synonymous_variant | 18/19 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GUCY2D | ENST00000254854.5 | c.3297G>A | p.Pro1099= | synonymous_variant | 19/20 | 1 | NM_000180.4 | P1 | |
GUCY2D | ENST00000574510.1 | n.235G>A | non_coding_transcript_exon_variant | 2/2 | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.0198 AC: 3014AN: 152110Hom.: 34 Cov.: 33
GnomAD3 exomes AF: 0.0217 AC: 3724AN: 171582Hom.: 62 AF XY: 0.0215 AC XY: 2012AN XY: 93406
GnomAD4 exome AF: 0.0208 AC: 29420AN: 1416600Hom.: 405 Cov.: 31 AF XY: 0.0206 AC XY: 14455AN XY: 701048
GnomAD4 genome ? AF: 0.0198 AC: 3012AN: 152228Hom.: 34 Cov.: 33 AF XY: 0.0207 AC XY: 1538AN XY: 74428
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Nov 29, 2023 | - - |
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | May 23, 2021 | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Sep 03, 2014 | - - |
Cone-rod dystrophy 6;C2931258:Leber congenital amaurosis 1 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at