rs4988509
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_198407.2(GHSR):āc.531C>Gā(p.Pro177=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,120 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P177P) has been classified as Likely benign.
Frequency
Consequence
NM_198407.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GHSR | NM_198407.2 | c.531C>G | p.Pro177= | synonymous_variant | 1/2 | ENST00000241256.3 | |
GHSR | NM_004122.2 | c.531C>G | p.Pro177= | synonymous_variant | 1/1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GHSR | ENST00000241256.3 | c.531C>G | p.Pro177= | synonymous_variant | 1/2 | 1 | NM_198407.2 | P1 | |
GHSR | ENST00000427970.1 | c.531C>G | p.Pro177= | synonymous_variant | 1/1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250346Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135448
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461120Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 726724
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at