NM_000515.5:c.456+90T>A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000515.5(GH1):c.456+90T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.387 in 1,613,692 control chromosomes in the GnomAD database, including 125,177 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000515.5 intron
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GH1 | NM_000515.5 | c.456+90T>A | intron_variant | Intron 4 of 4 | ENST00000323322.10 | NP_000506.2 | ||
GH1 | NM_022559.4 | c.411+90T>A | intron_variant | Intron 4 of 4 | NP_072053.1 | |||
GH1 | NM_022560.4 | c.336+90T>A | intron_variant | Intron 3 of 3 | NP_072054.1 | |||
LOC112268204 | XR_002958148.2 | n.388+26A>T | intron_variant | Intron 2 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GH1 | ENST00000323322.10 | c.456+90T>A | intron_variant | Intron 4 of 4 | 1 | NM_000515.5 | ENSP00000312673.5 | |||
ENSG00000285947 | ENST00000647774.1 | c.732+90T>A | intron_variant | Intron 7 of 7 | ENSP00000497443.1 |
Frequencies
GnomAD3 genomes AF: 0.322 AC: 48984AN: 151980Hom.: 9216 Cov.: 32
GnomAD4 exome AF: 0.394 AC: 575572AN: 1461594Hom.: 115956 Cov.: 64 AF XY: 0.392 AC XY: 284997AN XY: 727118
GnomAD4 genome AF: 0.322 AC: 49007AN: 152098Hom.: 9221 Cov.: 32 AF XY: 0.321 AC XY: 23881AN XY: 74358
ClinVar
Submissions by phenotype
not provided Benign:2
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This variant is associated with the following publications: (PMID: 20650818, 10720078, 11904318) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at