chr16-81082793-C-CTATCCACCACTAATTTAAGACAACTCTGCTGGCTTGCGTTATTTCATACTAGTTTATTTAGGAGTTCCATTTTCACTCCTCAATAGATTTTATGTATTTCTCATATGCTTCTTCACTCATAAGTTCATCTAGTTCTGAAGGGTTACTCAGTGTCATCTTGATCAGCCAACCTGCAACCAAAAGACAACCTTATATTCCACATTAACTTTTTAAAAAGTCAAATTCATCCAAAACGTAAAATAAATTTCTGAGCGCCTCAATCTTGTATTCTTTACAAAAACCATACATTATTTGTTCATAGAACTTTAAATTTTAGCCTTAAGAATTAAAATACTTGTATATAACAAATGAAAATAATTATGGCTAGAATAGATTCCACCATAATAAATTAAGAACTCTTAGGTTGTAATAAGCATCAGAAAATGACATTTAAATCTTTAAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCGAAGGCAAGCAAATCACTTGAGGCTAGGAGCTCTAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGCAGTTGCCCTTGATCCCAGCTACTGGGAAGCTGAGGCAGAAGAAGTGCTTGAACCCGAGAAGGGGAGGTTGCAGTGCACCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAATAATAAAAATAAGTCCTTAAATATATGATCCAAATACACAAGACCAGGTATGTCTTTAACAAATGGAACACTAACTACTGAGGTTAACGGGATTAGAAAGCAGTAGTAATTAGAAGGGCTAGGTGACAGACAAAAGAGAACTACAACCTAATCCTAGCTTTGCCATTTATCAGCCATGAGACCCTGACAGATAAATCCTTTGGAGCCTCTATTCATCTACAAAATAGAGAAAATTGCTGTTAGCTTACCTGATTAGATTATAAGGGTGAAAATGTGAGAAAACCAAAAATTAATGCAAAATATATATTTTTTTACCTCCCATGTCACACAATATGAGTGGCTGCTTTATGTCTGAAAAAGTAAATACTTTGCAGATGTTTACACCAAAACCAAAGAATCTACAACTGATATCAAGAAACTGCAAAATAAGGTAATGCTTTTATCATCAGAGATTTTTTTTTCTTTTTTTGAGAAGGTCTCGCTCTGTCACTCAGGCTGGAGTGGAGTGGTGCGATCTTGGCTCACTATAGACTGCAGCCTTGACCTCCCAGGTTCAAGCAATTCTCCCACCTCAGCCTCCCTAGTAACTGAGACTACAGGCACATTCCACCACAGCCAGCTAATTTTTGTATTTCTATAGAGACAGAGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCCTGGACTAAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCGCGAGCCACTGCGCCTAGCCAGAAATCTTAAACATAACTTTAAGTATTCAACTAACCTCTGTTTTTCTTTTAAAGCAGAACATCTCTATTTAGTACCAAGAAGTAGAAAAAGATGAAGTCACAATCAGCTAAACTTGCTTTAAATTCTAGATAAAATATTTACTGTAGTAGTAATTCCTTGAGAAATTTCTAGCAACAGCTTACCATCTTCATAACAAGATTTGTTTACAAGTCCTGGATTTTCTGCAAGAGCTTCATTAATTTCAGTTACTTCTCCTGATAAAGGAGAATAGAGTTCACTAGCAGCTTTCACACTTTCCAAAGCACCAAACTCATCTAAGTGGAAAAAAAATTAAAGAAAACATGAAATGTTAAAAGTCAGTTACTTGAAAACATA

Variant names:

• chr16-81082793-C-CTATCCACCACTAATTTAAGACAACTCTGCTGGCTTGCGTTATTTCATACTAGTTTATTTAGGAGTTCCATTTTCACTCCTCAATAGATTTTATGTATTTCTCATATGCTTCTTCACTCATAAGTTCATCTAGTTCTGAAGGGTTACTCAGTGTCATCTTGATCAGCCAACCTGCAACCAAAAGACAACCTTATATTCCACATTAACTTTTTAAAAAGTCAAATTCATCCAAAACGTAAAATAAATTTCTGAGCGCCTCAATCTTGTATTCTTTACAAAAACCATACATTATTTGTTCATAGAACTTTAAATTTTAGCCTTAAGAATTAAAATACTTGTATATAACAAATGAAAATAATTATGGCTAGAATAGATTCCACCATAATAAATTAAGAACTCTTAGGTTGTAATAAGCATCAGAAAATGACATTTAAATCTTTAAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCGAAGGCAAGCAAATCACTTGAGGCTAGGAGCTCTAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGCAGTTGCCCTTGATCCCAGCTACTGGGAAGCTGAGGCAGAAGAAGTGCTTGAACCCGAGAAGGGGAGGTTGCAGTGCACCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAATAATAAAAATAAGTCCTTAAATATATGATCCAAATACACAAGACCAGGTATGTCTTTAACAAATGGAACACTAACTACTGAGGTTAACGGGATTAGAAAGCAGTAGTAATTAGAAGGGCTAGGTGACAGACAAAAGAGAACTACAACCTAATCCTAGCTTTGCCATTTATCAGCCATGAGACCCTGACAGATAAATCCTTTGGAGCCTCTATTCATCTACAAAATAGAGAAAATTGCTGTTAGCTTACCTGATTAGATTATAAGGGTGAAAATGTGAGAAAACCAAAAATTAATGCAAAATATATATTTTTTTACCTCCCATGTCACACAATATGAGTGGCTGCTTTATGTCTGAAAAAGTAAATACTTTGCAGATGTTTACACCAAAACCAAAGAATCTACAACTGATATCAAGAAACTGCAAAATAAGGTAATGCTTTTATCATCAGAGATTTTTTTTTCTTTTTTTGAGAAGGTCTCGCTCTGTCACTCAGGCTGGAGTGGAGTGGTGCGATCTTGGCTCACTATAGACTGCAGCCTTGACCTCCCAGGTTCAAGCAATTCTCCCACCTCAGCCTCCCTAGTAACTGAGACTACAGGCACATTCCACCACAGCCAGCTAATTTTTGTATTTCTATAGAGACAGAGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCCTGGACTAAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCGCGAGCCACTGCGCCTAGCCAGAAATCTTAAACATAACTTTAAGTATTCAACTAACCTCTGTTTTTCTTTTAAAGCAGAACATCTCTATTTAGTACCAAGAAGTAGAAAAAGATGAAGTCACAATCAGCTAAACTTGCTTTAAATTCTAGATAAAATATTTACTGTAGTAGTAATTCCTTGAGAAATTTCTAGCAACAGCTTACCATCTTCATAACAAGATTTGTTTACAAGTCCTGGATTTTCTGCAAGAGCTTCATTAATTTCAGTTACTTCTCCTGATAAAGGAGAATAGAGTTCACTAGCAGCTTTCACACTTTCCAAAGCACCAAACTCATCTAAGTGGAAAAAAAATTAAAGAAAACATGAAATGTTAAAAGTCAGTTACTTGAAAACATA
• NM_004483.5:c.293-61_*72dupTATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_004483.5(GCSH):​c.293-61_*72dupTATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA 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. It is difficult to determine the true allele frequency of this variant because it is of type INS_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 22)
• Consequence: GCSH NM_004483.5 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.36
• Publications: 0 publications found

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]

GCSH Gene-Disease associations (from GenCC):

• glycine encephalopathy

  Inheritance: AR Classification: STRONG, LIMITED Submitted by: ClinGen, Ambry Genetics
• multiple mitochondrial dysfunctions syndrome 7

  Inheritance: AR Classification: STRONG, MODERATE Submitted by: G2P, Ambry Genetics, Labcorp Genetics (formerly Invitae)
• infantile glycine encephalopathy

  Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
• neonatal glycine encephalopathy

  Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
• atypical glycine encephalopathy

  Inheritance: Unknown Classification: SUPPORTIVE Submitted by: Orphanet

ENSG00000284512 (HGNC:):

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_004483.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	GCSH	NM_004483.5	MANE Select	c.293-61_*72dupTATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA		3_prime_UTR	Exon 5 of 5	NP_004474.2
	GCSH	NR_033249.2		n.346-61_647dupTATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA		non_coding_transcript_exon	Exon 4 of 4

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	GCSH	ENST00000315467.9	TSL:1 MANE Select	c.*72_*73insTATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA		3_prime_UTR	Exon 5 of 5	ENSP00000319531.3	P23434
	ENSG00000284512	ENST00000640345.1	TSL:5	c.424+1669_424+1670insTATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA		intron	N/A	ENSP00000492798.1	A0A1W2PS29
	ENSG00000260643	ENST00000564536.2	TSL:5	c.424+1669_424+1670insTATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA		intron	N/A	ENSP00000491651.1	A0A1W2PPQ1

Frequencies

GnomAD3 genomes Cov.: 22

GnomAD4 exome Cov.: 8

GnomAD4 genome Cov.: 22

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		1.4

Splicing

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

Other links and lift over

hg19: chr16-81116398;