rs3749737
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_003999.3(OSMR):c.2806C>T(p.Pro936Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00602 in 1,614,130 control chromosomes in the GnomAD database, including 199 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_003999.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OSMR | NM_003999.3 | c.2806C>T | p.Pro936Ser | missense_variant | 18/18 | ENST00000274276.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OSMR | ENST00000274276.8 | c.2806C>T | p.Pro936Ser | missense_variant | 18/18 | 1 | NM_003999.3 | P1 | |
OSMR | ENST00000508882.1 | c.74+775C>T | intron_variant, NMD_transcript_variant | 3 | |||||
OSMR | ENST00000509237.5 | c.155+775C>T | intron_variant, NMD_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.0177 AC: 2700AN: 152168Hom.: 52 Cov.: 32
GnomAD3 exomes AF: 0.0110 AC: 2758AN: 251360Hom.: 57 AF XY: 0.0105 AC XY: 1430AN XY: 135848
GnomAD4 exome AF: 0.00480 AC: 7013AN: 1461844Hom.: 147 Cov.: 33 AF XY: 0.00516 AC XY: 3750AN XY: 727222
GnomAD4 genome AF: 0.0177 AC: 2701AN: 152286Hom.: 52 Cov.: 32 AF XY: 0.0185 AC XY: 1375AN XY: 74458
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at