NM_003999.3:c.132G>A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_003999.3(OSMR):c.132G>A(p.Thr44Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00425 in 1,613,418 control chromosomes in the GnomAD database, including 272 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_003999.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OSMR | ENST00000274276.8 | c.132G>A | p.Thr44Thr | synonymous_variant | Exon 3 of 18 | 1 | NM_003999.3 | ENSP00000274276.3 | ||
OSMR | ENST00000502536.5 | c.132G>A | p.Thr44Thr | synonymous_variant | Exon 3 of 7 | 1 | ENSP00000422023.1 |
Frequencies
GnomAD3 genomes AF: 0.0217 AC: 3298AN: 151840Hom.: 132 Cov.: 33
GnomAD3 exomes AF: 0.00600 AC: 1508AN: 251128Hom.: 64 AF XY: 0.00458 AC XY: 621AN XY: 135724
GnomAD4 exome AF: 0.00243 AC: 3556AN: 1461460Hom.: 140 Cov.: 30 AF XY: 0.00208 AC XY: 1512AN XY: 727018
GnomAD4 genome AF: 0.0218 AC: 3306AN: 151958Hom.: 132 Cov.: 33 AF XY: 0.0205 AC XY: 1526AN XY: 74282
ClinVar
Submissions by phenotype
not provided Benign:2
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OSMR-related disorder Benign:1
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