rs8069344
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000180.4(GUCY2D):c.2345T>A(p.Leu782His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.133 in 1,613,268 control chromosomes in the GnomAD database, including 17,920 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin ClinVar. Synonymous variant affecting the same amino acid position (i.e. L782L) has been classified as Uncertain significance.
Frequency
Consequence
NM_000180.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GUCY2D | NM_000180.4 | c.2345T>A | p.Leu782His | missense_variant | 12/20 | ENST00000254854.5 | |
GUCY2D | XM_011523816.2 | c.2345T>A | p.Leu782His | missense_variant | 11/19 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GUCY2D | ENST00000254854.5 | c.2345T>A | p.Leu782His | missense_variant | 12/20 | 1 | NM_000180.4 | P1 | |
ENST00000623126.1 | n.2418A>T | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.192 AC: 29181AN: 152088Hom.: 4029 Cov.: 32
GnomAD3 exomes AF: 0.123 AC: 30853AN: 251294Hom.: 2799 AF XY: 0.120 AC XY: 16307AN XY: 135858
GnomAD4 exome AF: 0.127 AC: 185391AN: 1461062Hom.: 13869 Cov.: 32 AF XY: 0.126 AC XY: 91788AN XY: 726852
GnomAD4 genome ? AF: 0.192 AC: 29245AN: 152206Hom.: 4051 Cov.: 32 AF XY: 0.188 AC XY: 13972AN XY: 74414
ClinVar
Submissions by phenotype
Cone-rod dystrophy 6 Benign:2
Benign, criteria provided, single submitter | clinical testing | Mendelics | May 28, 2019 | - - |
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Aug 10, 2021 | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Night blindness, congenital stationary, type1i Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Aug 10, 2021 | - - |
Leber congenital amaurosis 1 Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Aug 10, 2021 | - - |
Choroidal dystrophy, central areolar, 1 Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Aug 10, 2021 | - - |
Cone-rod dystrophy 6;C2931258:Leber congenital amaurosis 1 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 03, 2018 | This variant is associated with the following publications: (PMID: 11035546, 17964524, 18161624, 29178642, 17344846, 20079931, 16741161) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at