GeneBe

chr16-81082793-C-CTATCCACCACTAATTTAAGACAACTCTGCTGGCTTGCGTTATTTCATACTAGTTTATTTAGGAGTTCCATTTTCACTCCTCAATAGATTTTATGTATTTCTCATATGCTTCTTCACTCATAAGTTCATCTAGTTCTGAAGGGTTACTCAGTGTCATCTTGATCAGCCAACCTGCAACCAAAAGACAACCTTATATTCCACATTAACTTTTTAAAAAGTCAAATTCATCCAAAACGTAAAATAAATTTCTGAGCGCCTCAATCTTGTATTCTTTACAAAAACCATACATTATTTGTTCATAGAACTTTAAATTTTAGCCTTAAGAATTAAAATACTTGTATATAACAAATGAAAATAATTATGGCTAGAATAGATTCCACCATAATAAATTAAGAACTCTTAGGTTGTAATAAGCATCAGAAAATGACATTTAAATCTTTAAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCGAAGGCAAGCAAATCACTTGAGGCTAGGAGCTCTAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGCAGTTGCCCTTGATCCCAGCTACTGGGAAGCTGAGGCAGAAGAAGTGCTTGAACCCGAGAAGGGGAGGTTGCAGTGCACCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAATAATAAAAATAAGTCCTTAAATATATGATCCAAATACACAAGACCAGGTATGTCTTTAACAAATGGAACACTAACTACTGAGGTTAACGGGATTAGAAAGCAGTAGTAATTAGAAGGGCTAGGTGACAGACAAAAGAGAACTACAACCTAATCCTAGCTTTGCCATTTATCAGCCATGAGACCCTGACAGATAAATCCTTTGGAGCCTCTATTCATCTACAAAATAGAGAAAATTGCTGTTAGCTTACCTGATTAGATTATAAGGGTGAAAATGTGAGAAAACCAAAAATTAATGCAAAATATATATTTTTTTACCTCCCATGTCACACAATATGAGTGGCTGCTTTATGTCTGAAAAAGTAAATACTTTGCAGATGTTTACACCAAAACCAAAGAATCTACAACTGATATCAAGAAACTGCAAAATAAGGTAATGCTTTTATCATCAGAGATTTTTTTTTCTTTTTTTGAGAAGGTCTCGCTCTGTCACTCAGGCTGGAGTGGAGTGGTGCGATCTTGGCTCACTATAGACTGCAGCCTTGACCTCCCAGGTTCAAGCAATTCTCCCACCTCAGCCTCCCTAGTAACTGAGACTACAGGCACATTCCACCACAGCCAGCTAATTTTTGTATTTCTATAGAGACAGAGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCCTGGACTAAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCGCGAGCCACTGCGCCTAGCCAGAAATCTTAAACATAACTTTAAGTATTCAACTAACCTCTGTTTTTCTTTTAAAGCAGAACATCTCTATTTAGTACCAAGAAGTAGAAAAAGATGAAGTCACAATCAGCTAAACTTGCTTTAAATTCTAGATAAAATATTTACTGTAGTAGTAATTCCTTGAGAAATTTCTAGCAACAGCTTACCATCTTCATAACAAGATTTGTTTACAAGTCCTGGATTTTCTGCAAGAGCTTCATTAATTTCAGTTACTTCTCCTGATAAAGGAGAATAGAGTTCACTAGCAGCTTTCACACTTTCCAAAGCACCAAACTCATCTAAGTGGAAAAAAAATTAAAGAAAACATGAAATGTTAAAAGTCAGTTACTTGAAAACAT

Position:

Variant summary

Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP5

The NM_004483.5(GCSH):​c.293-65_*72dupATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (no stars).

Frequency

Genomes: not found (cov: 22)

Consequence

GCSH
NM_004483.5 3_prime_UTR

Scores

Not classified

Clinical Significance

Pathogenic no assertion criteria provided P:1

Conservation

PhyloP100: 1.36
Variant links:
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 Uncertain_significance. Variant got 3 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
PP5
Variant 16-81082793-C-CTATCCACCACTAATTTAAGACAACTCTGCTGGCTTGCGTTATTTCATACTAGTTTATTTAGGAGTTCCATTTTCACTCCTCAATAGATTTTATGTATTTCTCATATGCTTCTTCACTCATAAGTTCATCTAGTTCTGAAGGGTTACTCAGTGTCATCTTGATCAGCCAACCTGCAACCAAAAGACAACCTTATATTCCACATTAACTTTTTAAAAAGTCAAATTCATCCAAAACGTAAAATAAATTTCTGAGCGCCTCAATCTTGTATTCTTTACAAAAACCATACATTATTTGTTCATAGAACTTTAAATTTTAGCCTTAAGAATTAAAATACTTGTATATAACAAATGAAAATAATTATGGCTAGAATAGATTCCACCATAATAAATTAAGAACTCTTAGGTTGTAATAAGCATCAGAAAATGACATTTAAATCTTTAAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCGAAGGCAAGCAAATCACTTGAGGCTAGGAGCTCTAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGCAGTTGCCCTTGATCCCAGCTACTGGGAAGCTGAGGCAGAAGAAGTGCTTGAACCCGAGAAGGGGAGGTTGCAGTGCACCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAATAATAAAAATAAGTCCTTAAATATATGATCCAAATACACAAGACCAGGTATGTCTTTAACAAATGGAACACTAACTACTGAGGTTAACGGGATTAGAAAGCAGTAGTAATTAGAAGGGCTAGGTGACAGACAAAAGAGAACTACAACCTAATCCTAGCTTTGCCATTTATCAGCCATGAGACCCTGACAGATAAATCCTTTGGAGCCTCTATTCATCTACAAAATAGAGAAAATTGCTGTTAGCTTACCTGATTAGATTATAAGGGTGAAAATGTGAGAAAACCAAAAATTAATGCAAAATATATATTTTTTTACCTCCCATGTCACACAATATGAGTGGCTGCTTTATGTCTGAAAAAGTAAATACTTTGCAGATGTTTACACCAAAACCAAAGAATCTACAACTGATATCAAGAAACTGCAAAATAAGGTAATGCTTTTATCATCAGAGATTTTTTTTTCTTTTTTTGAGAAGGTCTCGCTCTGTCACTCAGGCTGGAGTGGAGTGGTGCGATCTTGGCTCACTATAGACTGCAGCCTTGACCTCCCAGGTTCAAGCAATTCTCCCACCTCAGCCTCCCTAGTAACTGAGACTACAGGCACATTCCACCACAGCCAGCTAATTTTTGTATTTCTATAGAGACAGAGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCCTGGACTAAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCGCGAGCCACTGCGCCTAGCCAGAAATCTTAAACATAACTTTAAGTATTCAACTAACCTCTGTTTTTCTTTTAAAGCAGAACATCTCTATTTAGTACCAAGAAGTAGAAAAAGATGAAGTCACAATCAGCTAAACTTGCTTTAAATTCTAGATAAAATATTTACTGTAGTAGTAATTCCTTGAGAAATTTCTAGCAACAGCTTACCATCTTCATAACAAGATTTGTTTACAAGTCCTGGATTTTCTGCAAGAGCTTCATTAATTTCAGTTACTTCTCCTGATAAAGGAGAATAGAGTTCACTAGCAGCTTTCACACTTTCCAAAGCACCAAACTCATCTAAGTGGAAAAAAAATTAAAGAAAACATGAAATGTTAAAAGTCAGTTACTTGAAAACAT is Pathogenic according to our data. Variant chr16-81082793-C-CTATCCACCACTAATTTAAGACAACTCTGCTGGCTTGCGTTATTTCATACTAGTTTATTTAGGAGTTCCATTTTCACTCCTCAATAGATTTTATGTATTTCTCATATGCTTCTTCACTCATAAGTTCATCTAGTTCTGAAGGGTTACTCAGTGTCATCTTGATCAGCCAACCTGCAACCAAAAGACAACCTTATATTCCACATTAACTTTTTAAAAAGTCAAATTCATCCAAAACGTAAAATAAATTTCTGAGCGCCTCAATCTTGTATTCTTTACAAAAACCATACATTATTTGTTCATAGAACTTTAAATTTTAGCCTTAAGAATTAAAATACTTGTATATAACAAATGAAAATAATTATGGCTAGAATAGATTCCACCATAATAAATTAAGAACTCTTAGGTTGTAATAAGCATCAGAAAATGACATTTAAATCTTTAAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCGAAGGCAAGCAAATCACTTGAGGCTAGGAGCTCTAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGCAGTTGCCCTTGATCCCAGCTACTGGGAAGCTGAGGCAGAAGAAGTGCTTGAACCCGAGAAGGGGAGGTTGCAGTGCACCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAATAATAAAAATAAGTCCTTAAATATATGATCCAAATACACAAGACCAGGTATGTCTTTAACAAATGGAACACTAACTACTGAGGTTAACGGGATTAGAAAGCAGTAGTAATTAGAAGGGCTAGGTGACAGACAAAAGAGAACTACAACCTAATCCTAGCTTTGCCATTTATCAGCCATGAGACCCTGACAGATAAATCCTTTGGAGCCTCTATTCATCTACAAAATAGAGAAAATTGCTGTTAGCTTACCTGATTAGATTATAAGGGTGAAAATGTGAGAAAACCAAAAATTAATGCAAAATATATATTTTTTTACCTCCCATGTCACACAATATGAGTGGCTGCTTTATGTCTGAAAAAGTAAATACTTTGCAGATGTTTACACCAAAACCAAAGAATCTACAACTGATATCAAGAAACTGCAAAATAAGGTAATGCTTTTATCATCAGAGATTTTTTTTTCTTTTTTTGAGAAGGTCTCGCTCTGTCACTCAGGCTGGAGTGGAGTGGTGCGATCTTGGCTCACTATAGACTGCAGCCTTGACCTCCCAGGTTCAAGCAATTCTCCCACCTCAGCCTCCCTAGTAACTGAGACTACAGGCACATTCCACCACAGCCAGCTAATTTTTGTATTTCTATAGAGACAGAGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCCTGGACTAAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCGCGAGCCACTGCGCCTAGCCAGAAATCTTAAACATAACTTTAAGTATTCAACTAACCTCTGTTTTTCTTTTAAAGCAGAACATCTCTATTTAGTACCAAGAAGTAGAAAAAGATGAAGTCACAATCAGCTAAACTTGCTTTAAATTCTAGATAAAATATTTACTGTAGTAGTAATTCCTTGAGAAATTTCTAGCAACAGCTTACCATCTTCATAACAAGATTTGTTTACAAGTCCTGGATTTTCTGCAAGAGCTTCATTAATTTCAGTTACTTCTCCTGATAAAGGAGAATAGAGTTCACTAGCAGCTTTCACACTTTCCAAAGCACCAAACTCATCTAAGTGGAAAAAAAATTAAAGAAAACATGAAATGTTAAAAGTCAGTTACTTGAAAACAT is described in ClinVar as [Pathogenic]. Clinvar id is 2506441.Status of the report is no_assertion_criteria_provided, 0 stars.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
GCSHNM_004483.5 linkuse as main transcriptc.293-65_*72dupATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA 3_prime_UTR_variant 5/5 ENST00000315467.9 NP_004474.2 P23434

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
GCSHENST00000315467 linkuse as main transcriptc.293-65_*72dupATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA 3_prime_UTR_variant 5/51 NM_004483.5 ENSP00000319531.3 P23434
ENSG00000284512ENST00000640345.1 linkuse as main transcriptc.293-60_424+1669dupATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA intron_variant 5 ENSP00000492798.1 A0A1W2PS29
ENSG00000260643ENST00000564536.2 linkuse as main transcriptc.293-60_424+1669dupATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA intron_variant 5 ENSP00000491651.1 A0A1W2PPQ1

Frequencies

GnomAD3 genomes
Cov.:
22
GnomAD4 exome
Cov.:
8
GnomAD4 genome
Cov.:
22

ClinVar

Significance: Pathogenic
Submissions summary: Pathogenic:1
Revision: no assertion criteria provided
LINK: link

Submissions by phenotype

Multiple mitochondrial dysfunctions syndrome 7 Pathogenic:1
Pathogenic, no assertion criteria providedliterature onlyOMIMSep 05, 2023- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr16-81116398; API