chr16-81082793-C-CTATCCACCACTAATTTAAGACAACTCTGCTGGCTTGCGTTATTTCATACTAGTTTATTTAGGAGTTCCATTTTCACTCCTCAATAGATTTTATGTATTTCTCATATGCTTCTTCACTCATAAGTTCATCTAGTTCTGAAGGGTTACTCAGTGTCATCTTGATCAGCCAACCTGCAACCAAAAGACAACCTTATATTCCACATTAACTTTTTAAAAAGTCAAATTCATCCAAAACGTAAAATAAATTTCTGAGCGCCTCAATCTTGTATTCTTTACAAAAACCATACATTATTTGTTCATAGAACTTTAAATTTTAGCCTTAAGAATTAAAATACTTGTATATAACAAATGAAAATAATTATGGCTAGAATAGATTCCACCATAATAAATTAAGAACTCTTAGGTTGTAATAAGCATCAGAAAATGACATTTAAATCTTTAAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCGAAGGCAAGCAAATCACTTGAGGCTAGGAGCTCTAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGCAGTTGCCCTTGATCCCAGCTACTGGGAAGCTGAGGCAGAAGAAGTGCTTGAACCCGAGAAGGGGAGGTTGCAGTGCACCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAATAATAAAAATAAGTCCTTAAATATATGATCCAAATACACAAGACCAGGTATGTCTTTAACAAATGGAACACTAACTACTGAGGTTAACGGGATTAGAAAGCAGTAGTAATTAGAAGGGCTAGGTGACAGACAAAAGAGAACTACAACCTAATCCTAGCTTTGCCATTTATCAGCCATGAGACCCTGACAGATAAATCCTTTGGAGCCTCTATTCATCTACAAAATAGAGAAAATTGCTGTTAGCTTACCTGATTAGATTATAAGGGTGAAAATGTGAGAAAACCAAAAATTAATGCAAAATATATATTTTTTTACCTCCCATGTCACACAATATGAGTGGCTGCTTTATGTCTGAAAAAGTAAATACTTTGCAGATGTTTACACCAAAACCAAAGAATCTACAACTGATATCAAGAAACTGCAAAATAAGGTAATGCTTTTATCATCAGAGATTTTTTTTTCTTTTTTTGAGAAGGTCTCGCTCTGTCACTCAGGCTGGAGTGGAGTGGTGCGATCTTGGCTCACTATAGACTGCAGCCTTGACCTCCCAGGTTCAAGCAATTCTCCCACCTCAGCCTCCCTAGTAACTGAGACTACAGGCACATTCCACCACAGCCAGCTAATTTTTGTATTTCTATAGAGACAGAGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCCTGGACTAAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCGCGAGCCACTGCGCCTAGCCAGAAATCTTAAACATAACTTTAAGTATTCAACTAACCTCTGTTTTTCTTTTAAAGCAGAACATCTCTATTTAGTACCAAGAAGTAGAAAAAGATGAAGTCACAATCAGCTAAACTTGCTTTAAATTCTAGATAAAATATTTACTGTAGTAGTAATTCCTTGAGAAATTTCTAGCAACAGCTTACCATCTTCATAACAAGATTTGTTTACAAGTCCTGGATTTTCTGCAAGAGCTTCATTAATTTCAGTTACTTCTCCTGATAAAGGAGAATAGAGTTCACTAGCAGCTTTCACACTTTCCAAAGCACCAAACTCATCTAAGTGGAAAAAAAATTAAAGAAAACATGAAATGTTAAAAGTCAGTTACTTGAAAACAT

Variant names:

Variant summary

Our verdict is Uncertain significance. The variant received 1 ACMG points: 1P and 0B. PP5

The NM_004483.5(GCSH):c.293-60_*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. 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. 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

Publications

0 publications found

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]

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

GCSH links:

ENSG00000284512 (HGNC:):

ENSG00000284512 links:

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 1 ACMG points.

PP5

Variant 16-81082793-C-CTATCCACCACTAATTTAAGACAACTCTGCTGGCTTGCGTTATTTCATACTAGTTTATTTAGGAGTTCCATTTTCACTCCTCAATAGATTTTATGTATTTCTCATATGCTTCTTCACTCATAAGTTCATCTAGTTCTGAAGGGTTACTCAGTGTCATCTTGATCAGCCAACCTGCAACCAAAAGACAACCTTATATTCCACATTAACTTTTTAAAAAGTCAAATTCATCCAAAACGTAAAATAAATTTCTGAGCGCCTCAATCTTGTATTCTTTACAAAAACCATACATTATTTGTTCATAGAACTTTAAATTTTAGCCTTAAGAATTAAAATACTTGTATATAACAAATGAAAATAATTATGGCTAGAATAGATTCCACCATAATAAATTAAGAACTCTTAGGTTGTAATAAGCATCAGAAAATGACATTTAAATCTTTAAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCGAAGGCAAGCAAATCACTTGAGGCTAGGAGCTCTAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGCAGTTGCCCTTGATCCCAGCTACTGGGAAGCTGAGGCAGAAGAAGTGCTTGAACCCGAGAAGGGGAGGTTGCAGTGCACCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAATAATAAAAATAAGTCCTTAAATATATGATCCAAATACACAAGACCAGGTATGTCTTTAACAAATGGAACACTAACTACTGAGGTTAACGGGATTAGAAAGCAGTAGTAATTAGAAGGGCTAGGTGACAGACAAAAGAGAACTACAACCTAATCCTAGCTTTGCCATTTATCAGCCATGAGACCCTGACAGATAAATCCTTTGGAGCCTCTATTCATCTACAAAATAGAGAAAATTGCTGTTAGCTTACCTGATTAGATTATAAGGGTGAAAATGTGAGAAAACCAAAAATTAATGCAAAATATATATTTTTTTACCTCCCATGTCACACAATATGAGTGGCTGCTTTATGTCTGAAAAAGTAAATACTTTGCAGATGTTTACACCAAAACCAAAGAATCTACAACTGATATCAAGAAACTGCAAAATAAGGTAATGCTTTTATCATCAGAGATTTTTTTTTCTTTTTTTGAGAAGGTCTCGCTCTGTCACTCAGGCTGGAGTGGAGTGGTGCGATCTTGGCTCACTATAGACTGCAGCCTTGACCTCCCAGGTTCAAGCAATTCTCCCACCTCAGCCTCCCTAGTAACTGAGACTACAGGCACATTCCACCACAGCCAGCTAATTTTTGTATTTCTATAGAGACAGAGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCCTGGACTAAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCGCGAGCCACTGCGCCTAGCCAGAAATCTTAAACATAACTTTAAGTATTCAACTAACCTCTGTTTTTCTTTTAAAGCAGAACATCTCTATTTAGTACCAAGAAGTAGAAAAAGATGAAGTCACAATCAGCTAAACTTGCTTTAAATTCTAGATAAAATATTTACTGTAGTAGTAATTCCTTGAGAAATTTCTAGCAACAGCTTACCATCTTCATAACAAGATTTGTTTACAAGTCCTGGATTTTCTGCAAGAGCTTCATTAATTTCAGTTACTTCTCCTGATAAAGGAGAATAGAGTTCACTAGCAGCTTTCACACTTTCCAAAGCACCAAACTCATCTAAGTGGAAAAAAAATTAAAGAAAACATGAAATGTTAAAAGTCAGTTACTTGAAAACAT is Pathogenic according to our data. Variant chr16-81082793-C-CTATCCACCACTAATTTAAGACAACTCTGCTGGCTTGCGTTATTTCATACTAGTTTATTTAGGAGTTCCATTTTCACTCCTCAATAGATTTTATGTATTTCTCATATGCTTCTTCACTCATAAGTTCATCTAGTTCTGAAGGGTTACTCAGTGTCATCTTGATCAGCCAACCTGCAACCAAAAGACAACCTTATATTCCACATTAACTTTTTAAAAAGTCAAATTCATCCAAAACGTAAAATAAATTTCTGAGCGCCTCAATCTTGTATTCTTTACAAAAACCATACATTATTTGTTCATAGAACTTTAAATTTTAGCCTTAAGAATTAAAATACTTGTATATAACAAATGAAAATAATTATGGCTAGAATAGATTCCACCATAATAAATTAAGAACTCTTAGGTTGTAATAAGCATCAGAAAATGACATTTAAATCTTTAAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCGAAGGCAAGCAAATCACTTGAGGCTAGGAGCTCTAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGCAGTTGCCCTTGATCCCAGCTACTGGGAAGCTGAGGCAGAAGAAGTGCTTGAACCCGAGAAGGGGAGGTTGCAGTGCACCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAATAATAAAAATAAGTCCTTAAATATATGATCCAAATACACAAGACCAGGTATGTCTTTAACAAATGGAACACTAACTACTGAGGTTAACGGGATTAGAAAGCAGTAGTAATTAGAAGGGCTAGGTGACAGACAAAAGAGAACTACAACCTAATCCTAGCTTTGCCATTTATCAGCCATGAGACCCTGACAGATAAATCCTTTGGAGCCTCTATTCATCTACAAAATAGAGAAAATTGCTGTTAGCTTACCTGATTAGATTATAAGGGTGAAAATGTGAGAAAACCAAAAATTAATGCAAAATATATATTTTTTTACCTCCCATGTCACACAATATGAGTGGCTGCTTTATGTCTGAAAAAGTAAATACTTTGCAGATGTTTACACCAAAACCAAAGAATCTACAACTGATATCAAGAAACTGCAAAATAAGGTAATGCTTTTATCATCAGAGATTTTTTTTTCTTTTTTTGAGAAGGTCTCGCTCTGTCACTCAGGCTGGAGTGGAGTGGTGCGATCTTGGCTCACTATAGACTGCAGCCTTGACCTCCCAGGTTCAAGCAATTCTCCCACCTCAGCCTCCCTAGTAACTGAGACTACAGGCACATTCCACCACAGCCAGCTAATTTTTGTATTTCTATAGAGACAGAGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCCTGGACTAAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCGCGAGCCACTGCGCCTAGCCAGAAATCTTAAACATAACTTTAAGTATTCAACTAACCTCTGTTTTTCTTTTAAAGCAGAACATCTCTATTTAGTACCAAGAAGTAGAAAAAGATGAAGTCACAATCAGCTAAACTTGCTTTAAATTCTAGATAAAATATTTACTGTAGTAGTAATTCCTTGAGAAATTTCTAGCAACAGCTTACCATCTTCATAACAAGATTTGTTTACAAGTCCTGGATTTTCTGCAAGAGCTTCATTAATTTCAGTTACTTCTCCTGATAAAGGAGAATAGAGTTCACTAGCAGCTTTCACACTTTCCAAAGCACCAAACTCATCTAAGTGGAAAAAAAATTAAAGAAAACATGAAATGTTAAAAGTCAGTTACTTGAAAACAT is described in ClinVar as Pathogenic. ClinVar VariationId is 2506441.Status of the report is no_assertion_criteria_provided, 0 stars.

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.293-60_*72dupATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA		3_prime_UTR	Exon 5 of 5	NP_004474.2
	GCSH	NR_033249.2		n.346-60_647dupATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA		non_coding_transcript_exon	Exon 4 of 4

Ensembl Transcripts

Gene	Transcript	Tags	HGVSc	Effect	Exon Rank	Protein	UniProt
GCSH	ENST00000315467.9	TSL:1 MANE Select	c.72_73insATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA	3_prime_UTR	Exon 5 of 5	ENSP00000319531.3	P23434
ENSG00000284512	ENST00000640345.1	TSL:5	c.424+1669_424+1670insATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA	intron	N/A	ENSP00000492798.1	A0A1W2PS29
ENSG00000260643	ENST00000564536.2	TSL:5	c.424+1669_424+1670insATGTTTTCAAGTAACTGACTTTTAACATTTCATGTTTTCTTTAATTTTTTTTCCACTTAGATGAGTTTGGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTAACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAAGATGGTAAGCTGTTGCTAGAAATTTCTCAAGGAATTACTACTACAGTAAATATTTTATCTAGAATTTAAAGCAAGTTTAGCTGATTGTGACTTCATCTTTTTCTACTTCTTGGTACTAAATAGAGATGTTCTGCTTTAAAAGAAAAACAGAGGTTAGTTGAATACTTAAAGTTATGTTTAAGATTTCTGGCTAGGCGCAGTGGCTCGCGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTTAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAGAAATACAAAAATTAGCTGGCTGTGGTGGAATGTGCCTGTAGTCTCAGTTACTAGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTCAAGGCTGCAGTCTATAGTGAGCCAAGATCGCACCACTCCACTCCAGCCTGAGTGACAGAGCGAGACCTTCTCAAAAAAAGAAAAAAAAATCTCTGATGATAAAAGCATTACCTTATTTTGCAGTTTCTTGATATCAGTTGTAGATTCTTTGGTTTTGGTGTAAACATCTGCAAAGTATTTACTTTTTCAGACATAAAGCAGCCACTCATATTGTGTGACATGGGAGGTAAAAAAATATATATTTTGCATTAATTTTTGGTTTTCTCACATTTTCACCCTTATAATCTAATCAGGTAAGCTAACAGCAATTTTCTCTATTTTGTAGATGAATAGAGGCTCCAAAGGATTTATCTGTCAGGGTCTCATGGCTGATAAATGGCAAAGCTAGGATTAGGTTGTAGTTCTCTTTTGTCTGTCACCTAGCCCTTCTAATTACTACTGCTTTCTAATCCCGTTAACCTCAGTAGTTAGTGTTCCATTTGTTAAAGACATACCTGGTCTTGTGTATTTGGATCATATATTTAAGGACTTATTTTTATTATTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGTGCACTGCAACCTCCCCTTCTCGGGTTCAAGCACTTCTTCTGCCTCAGCTTCCCAGTAGCTGGGATCAAGGGCAACTGCCACCACGCCCAGCTAATTTTTGTGGTTTTGGTAGAGATGGGGTTCCACTATGTTGGCCAGGCTGGTCTAGAGCTCCTAGCCTCAAGTGATTTGCTTGCCTTCGCTTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTTAAAGATTTAAATGTCATTTTCTGATGCTTATTACAACCTAAGAGTTCTTAATTTATTATGGTGGAATCTATTCTAGCCATAATTATTTTCATTTGTTATATACAAGTATTTTAATTCTTAAGGCTAAAATTTAAAGTTCTATGAACAAATAATGTATGGTTTTTGTAAAGAATACAAGATTGAGGCGCTCAGAAATTTATTTTACGTTTTGGATGAATTTGACTTTTTAAAAAGTTAATGTGGAATATAAGGTTGTCTTTTGGTTGCAGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGTGAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGAAAATGGAACTCCTAAATAAACTAGTATGAAATAACGCAAGCCAGCAGAGTTGTCTTAAATTAGTGGTGGATA	intron	N/A	ENSP00000491651.1	A0A1W2PPQ1

Frequencies

GnomAD3 genomes

Cov.:

GnomAD4 exome

Cov.:

GnomAD4 genome

Cov.:

ClinVar

ClinVar submissions

Significance:Pathogenic

Revision:no assertion criteria provided

View on ClinVar

Pathogenic

VUS

Benign

Condition

Multiple mitochondrial dysfunctions syndrome 7 (1)

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

Publications

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Variant Effect in Transcripts

RefSeq Transcripts

Ensembl Transcripts

Frequencies

ClinVar

Computational scores

Splicing

Publications

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