rs10941412
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_003999.3(OSMR):c.1579G>A(p.Glu527Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.168 in 1,613,218 control chromosomes in the GnomAD database, including 24,299 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 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 UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E527A) has been classified as Uncertain significance.
Frequency
Consequence
NM_003999.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OSMR | NM_003999.3 | c.1579G>A | p.Glu527Lys | missense_variant | 11/18 | ENST00000274276.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OSMR | ENST00000274276.8 | c.1579G>A | p.Glu527Lys | missense_variant | 11/18 | 1 | NM_003999.3 | P1 | |
OSMR | ENST00000513831.1 | c.400G>A | p.Glu134Lys | missense_variant | 3/4 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.183 AC: 27773AN: 151966Hom.: 2755 Cov.: 32
GnomAD3 exomes AF: 0.151 AC: 37981AN: 251098Hom.: 3293 AF XY: 0.152 AC XY: 20680AN XY: 135700
GnomAD4 exome AF: 0.167 AC: 244015AN: 1461134Hom.: 21538 Cov.: 33 AF XY: 0.167 AC XY: 121245AN XY: 726888
GnomAD4 genome ? AF: 0.183 AC: 27801AN: 152084Hom.: 2761 Cov.: 32 AF XY: 0.183 AC XY: 13583AN XY: 74350
ClinVar
Submissions by phenotype
OSMR-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Nov 07, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at