X-70277473-C-T
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP6BS2
The NM_004312.3(ARR3):c.553C>T(p.Arg185Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000223 in 1,209,895 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 6 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R185P) has been classified as Uncertain significance.
Frequency
Consequence
NM_004312.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARR3 | NM_004312.3 | c.553C>T | p.Arg185Cys | missense_variant | 9/17 | ENST00000307959.9 | |
ARR3 | XM_047442105.1 | c.577C>T | p.Arg193Cys | missense_variant | 8/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARR3 | ENST00000307959.9 | c.553C>T | p.Arg185Cys | missense_variant | 9/17 | 1 | NM_004312.3 | P1 | |
ARR3 | ENST00000374495.7 | c.553C>T | p.Arg185Cys | missense_variant | 9/16 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000357 AC: 4AN: 112147Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34299
GnomAD3 exomes AF: 0.0000552 AC: 10AN: 181304Hom.: 0 AF XY: 0.0000607 AC XY: 4AN XY: 65906
GnomAD4 exome AF: 0.0000210 AC: 23AN: 1097695Hom.: 0 Cov.: 32 AF XY: 0.0000165 AC XY: 6AN XY: 363059
GnomAD4 genome AF: 0.0000357 AC: 4AN: 112200Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34362
ClinVar
Submissions by phenotype
Myopia 26, X-linked, female-limited Benign:1
Benign, criteria provided, single submitter | research | Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | Dec 12, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at