chr16-81082702-G-C
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Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_004483.5(GCSH):c.*164C>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.057 ( 232 hom., cov: 16)
Exomes 𝑓: 0.067 ( 1092 hom. )
Consequence
GCSH
NM_004483.5 3_prime_UTR
NM_004483.5 3_prime_UTR
Scores
2
Clinical Significance
Conservation
PhyloP100: -1.24
Genes affected
GCSH (HGNC:4208): (glycine cleavage system protein H) Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -20 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.87).
BP6
Variant 16-81082702-G-C is Benign according to our data. Variant chr16-81082702-G-C is described in ClinVar as [Benign]. Clinvar id is 1177967.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0655 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GCSH | NM_004483.5 | c.*164C>G | 3_prime_UTR_variant | 5/5 | ENST00000315467.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GCSH | ENST00000315467.9 | c.*164C>G | 3_prime_UTR_variant | 5/5 | 1 | NM_004483.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0574 AC: 7222AN: 125818Hom.: 232 Cov.: 16
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GnomAD3 exomes AF: 0.0609 AC: 4762AN: 78238Hom.: 144 AF XY: 0.0616 AC XY: 2528AN XY: 41012
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GnomAD4 exome AF: 0.0665 AC: 28490AN: 428366Hom.: 1092 Cov.: 0 AF XY: 0.0663 AC XY: 15152AN XY: 228684
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GnomAD4 genome AF: 0.0573 AC: 7220AN: 125912Hom.: 232 Cov.: 16 AF XY: 0.0553 AC XY: 3261AN XY: 58992
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ClinVar
Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 20, 2021 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at