16-81082793-C-CTATCCACCACTAATTTAAGACAACTCTGCTGGCTTGCGTTATTTCATACTAGTTTATTTAGGAGTTCCATTTTCACTCCTCAATAGATTTTATGTATTTCTCATATGCTTCTTCACTCATAAGTTCATCTAGTTCTGAAGGGTTACTCAGTGTCATCTTGATCAGCCAACCTGCAACCAAAAGACAACCTTATATTCCACATTAACTTTTTAAAAAGTCAAATTCATCCAAAACGTAAAATAAATTTCTGAGCGCCTCAATCTTGTATTCTTTACAAAAACCATACATTATTTGTTCATAGAACTTTAAATTTTAGCCTTAAGAATTAAAATACTTGTATATAACAAATGAAAATAATTATGGCTAGAATAGATTCCACCATAATAAATTAAGAACTCTTAGGTTGTAATAAGCATCAGAAAATGACATTTAAATCTTTAAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCGAAGGCAAGCAAATCACTTGAGGCTAGGAGCTCTAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGCAGTTGCCCTTGATCCCAGCTACTGGGAAGCTGAGGCAGAAGAAGTGCTTGAACCCGAGAAGGGGAGGTTGCAGTGCACCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAATAATAAAAATAAGTCCTTAAATATATGATCCAAATACACAAGACCAGGTATGTCTTTAACAAATGGAACACTAACTACTGAGGTTAACGGGATTAGAAAGCAGTAGTAATTAGAAGGGCTAGGTGACAGACAAAAGAGAACTACAACCTAATCCTAGCTTTGCCATTTATCAGCCATGAGACCCTGACAGATAAATCCTTTGGAGCCTCTATTCATCTACAAAATAGAGAAAATTGCTGTTAGCTTACCTGATTAGATTATAAGGGTGAAAATGTGAGAAAACCAAAAATTAATGCAAAATATATATTTTTTTACCTCCCATGTCACACAATATGAGTGGCTGCTTTATGTCTGAAAAAGTAAATACTTTGCAGATGTTTACACCAAAACCAAAGAATCTACAACTGATATCAAGAAACTGCAAAATAAGGTAATGCTTTTATCATCAGAGATTTTTTTTTCTTTTTTTGAGAAGGTCTCGCTCTGTCACTCAGGCTGGAGTGGAGTGGTGCGATCTTGGCTCACTATAGACTGCAGCCTTGACCTCCCAGGTTCAAGCAATTCTCCCACCTCAGCCTCCCTAGTAACTGAGACTACAGGCACATTCCACCACAGCCAGCTAATTTTTGTATTTCTATAGAGACAGAGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCCTGGACTAAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCGCGAGCCACTGCGCCTAGCCAGAAATCTTAAACATAACTTTAAGTATTCAACTAACCTCTGTTTTTCTTTTAAAGCAGAACATCTCTATTTAGTACCAAGAAGTAGAAAAAGATGAAGTCACAATCAGCTAAACTTGCTTTAAATTCTAGATAAAATATTTACTGTAGTAGTAATTCCTTGAGAAATTTCTAGCAACAGCTTACCATCTTCATAACAAGATTTGTTTACAAGTCCTGGATTTTCTGCAAGAGCTTCATTAATTTCAGTTACTTCTCCTGATAAAGGAGAATAGAGTTCACTAGCAGCTTTCACACTTTCCAAAGCACCAAACTCATCTAAGTGGAAAAAAAATTAAAGAAAACATGAAATGTTAAAAGTCAGTTACTTGAAAACAT

Position:

• chr16-81082793-C-CTATCCACCACTAATTTAAGACAACTCTGCTGGCTTGCGTTATTTCATACTAGTTTATTTAGGAGTTCCATTTTCACTCCTCAATAGATTTTATGTATTTCTCATATGCTTCTTCACTCATAAGTTCATCTAGTTCTGAAGGGTTACTCAGTGTCATCTTGATCAGCCAACCTGCAACCAAAAGACAACCTTATATTCCACATTAACTTTTTAAAAAGTCAAATTCATCCAAAACGTAAAATAAATTTCTGAGCGCCTCAATCTTGTATTCTTTACAAAAACCATACATTATTTGTTCATAGAACTTTAAATTTTAGCCTTAAGAATTAAAATACTTGTATATAACAAATGAAAATAATTATGGCTAGAATAGATTCCACCATAATAAATTAAGAACTCTTAGGTTGTAATAAGCATCAGAAAATGACATTTAAATCTTTAAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCGAAGGCAAGCAAATCACTTGAGGCTAGGAGCTCTAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGCAGTTGCCCTTGATCCCAGCTACTGGGAAGCTGAGGCAGAAGAAGTGCTTGAACCCGAGAAGGGGAGGTTGCAGTGCACCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAATAATAAAAATAAGTCCTTAAATATATGATCCAAATACACAAGACCAGGTATGTCTTTAACAAATGGAACACTAACTACTGAGGTTAACGGGATTAGAAAGCAGTAGTAATTAGAAGGGCTAGGTGACAGACAAAAGAGAACTACAACCTAATCCTAGCTTTGCCATTTATCAGCCATGAGACCCTGACAGATAAATCCTTTGGAGCCTCTATTCATCTACAAAATAGAGAAAATTGCTGTTAGCTTACCTGATTAGATTATAAGGGTGAAAATGTGAGAAAACCAAAAATTAATGCAAAATATATATTTTTTTACCTCCCATGTCACACAATATGAGTGGCTGCTTTATGTCTGAAAAAGTAAATACTTTGCAGATGTTTACACCAAAACCAAAGAATCTACAACTGATATCAAGAAACTGCAAAATAAGGTAATGCTTTTATCATCAGAGATTTTTTTTTCTTTTTTTGAGAAGGTCTCGCTCTGTCACTCAGGCTGGAGTGGAGTGGTGCGATCTTGGCTCACTATAGACTGCAGCCTTGACCTCCCAGGTTCAAGCAATTCTCCCACCTCAGCCTCCCTAGTAACTGAGACTACAGGCACATTCCACCACAGCCAGCTAATTTTTGTATTTCTATAGAGACAGAGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCCTGGACTAAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCGCGAGCCACTGCGCCTAGCCAGAAATCTTAAACATAACTTTAAGTATTCAACTAACCTCTGTTTTTCTTTTAAAGCAGAACATCTCTATTTAGTACCAAGAAGTAGAAAAAGATGAAGTCACAATCAGCTAAACTTGCTTTAAATTCTAGATAAAATATTTACTGTAGTAGTAATTCCTTGAGAAATTTCTAGCAACAGCTTACCATCTTCATAACAAGATTTGTTTACAAGTCCTGGATTTTCTGCAAGAGCTTCATTAATTTCAGTTACTTCTCCTGATAAAGGAGAATAGAGTTCACTAGCAGCTTTCACACTTTCCAAAGCACCAAACTCATCTAAGTGGAAAAAAAATTAAAGAAAACATGAAATGTTAAAAGTCAGTTACTTGAAAACAT

Variant summary

Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2 PP5

The NM_004483.5(GCSH):​c.*72_*73insATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA 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
• Clinical Significance: Pathogenic no assertion criteria provided P:1
• Conservation: PhyloP100: 1.36

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]

ACMG classification

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	UniProt
GCSH	NM_004483.5	c.*72_*73insATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA		3_prime_UTR_variant	5/5	ENST00000315467.9

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
GCSH	ENST00000315467.9	c.*72_*73insATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA		3_prime_UTR_variant	5/5	1	NM_004483.5	P1

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

Submissions by phenotype

Multiple mitochondrial dysfunctions syndrome 7 Pathogenic:1

Pathogenic, no assertion criteria provided

literature only

OMIM

Sep 05, 2023

- -

Computational scores

Source: dbNSFP v4.3

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;