rs62636730
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001034853.2(RPGR):c.3231T>A(p.Asn1077Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0241 in 1,207,070 control chromosomes in the GnomAD database, including 288 homozygotes. There are 9,240 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 11/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001034853.2 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 |
---|---|---|---|---|---|---|---|
RPGR | NM_001034853.2 | c.3231T>A | p.Asn1077Lys | missense_variant | 15/15 | ENST00000645032.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RPGR | ENST00000645032.1 | c.3231T>A | p.Asn1077Lys | missense_variant | 15/15 | NM_001034853.2 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0202 AC: 2201AN: 108960Hom.: 38 Cov.: 21 AF XY: 0.0189 AC XY: 596AN XY: 31532
GnomAD3 exomes AF: 0.0193 AC: 3507AN: 182026Hom.: 30 AF XY: 0.0194 AC XY: 1304AN XY: 67264
GnomAD4 exome AF: 0.0245 AC: 26913AN: 1098054Hom.: 250 Cov.: 34 AF XY: 0.0238 AC XY: 8643AN XY: 363452
GnomAD4 genome AF: 0.0202 AC: 2201AN: 109016Hom.: 38 Cov.: 21 AF XY: 0.0189 AC XY: 597AN XY: 31598
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Nov 27, 2019 | - - |
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 15, 2022 | See Variant Classification Assertion Criteria. - |
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 28, 2016 | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency - |
Primary ciliary dyskinesia 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