19-1397223-G-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 2P and 10B. PM2BP4_StrongBP6_ModerateBS1
The NM_000156.6(GAMT):c.*136C>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000699 in 1,057,930 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_000156.6 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GAMT | ENST00000252288 | c.*136C>A | 3_prime_UTR_variant | Exon 6 of 6 | 1 | NM_000156.6 | ENSP00000252288.1 | |||
GAMT | ENST00000640762.1 | c.*136C>A | downstream_gene_variant | 5 | ENSP00000492031.1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152088Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000729 AC: 66AN: 905728Hom.: 0 Cov.: 12 AF XY: 0.0000877 AC XY: 40AN XY: 455940
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152202Hom.: 0 Cov.: 33 AF XY: 0.0000806 AC XY: 6AN XY: 74414
ClinVar
Submissions by phenotype
Deficiency of guanidinoacetate methyltransferase Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at