1-202332745-A-AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATTATTTATACATATATACTTTATACTATATATACTTAATTAACTGACAATAGTAGCAAACATTATACCTTTTGTTTCTGTCTTGCATGCTTCTCTGTCCACTGTCTGGCATTCTTGAGGAAGGCTGGCTTATTATATTTAAATTCTGAGGACTGAGATGAAATCAAAGAAAAGAGTTAATGGAGAAAAACATGATTTGCAGTGGTTAGAGCTGCTGCAGCTATCCTCACACAGGGAGAGTTAGCGGTATAGACAAGGTAGGATATGTGTTGCAGAGGAAAATGGGGATATTTACTATGTCAGCCATGAGCGGGTCATCAGGGTTGGGTTCTGACATGAGCAGCTGAATAGAGGTCAACACAGTTGCGATGTTGAGGGATGGTCTCCAAGCACCCTATATACAAACAGATGAACAGTTGCTTTTATATTAGAATGTGATCCTCTAATTCAAGTTTAATAGATGAAGAAAACAGAATGCTGTAGAGTCAACCATTTACCCACAACTCACTTTTGGTGGCAATTTGAGAACATCCAGACAAATCCTTCCAGCAGAATCAATGTTTGGATGATAAATTGGAGTGAGAAATCGGATCTGAGGAGGTTCAAATGGGTACCTATGAAAGAATAAGACAACAGATAATTTTCATTACATAATTTTGCTTCTAAATACATTTAAATAGTTTCTTGGTCACAATAATTTTGGTATTATAGAAATGTCAGGGAGACTGCCTTTGGGAGGCAAACTTTCTCTCTTCCTAAATTTTCACTATGAAAATTTAAAATAAATCAGTTTGAAATAACAGTATTGAAAACATCCATATATCTACCACCTGGATTCAAGCCACTTTACCTCTAAATACTCCAGCATATCTTCTAAGAATAAGAACATTCTCCCATATAAATGCAATACTATTACCCCTTTGAAAAATTTAAGAACTAATTCCCTAATATCATTTACTGTTCAGATTTCAGTTGTTCTCCCCAGTTTTTTTTTTTTATTGCTGGGTTTTTCAAAACAGGACCCAATTACAATTCATACGTTGCATTTGGTTATTATGTATCTTTAGTGAGACACCGACCTTGCAAAGTTCCCAGTCTATTTTTAGAACTGATGCACCACATGATTATTAAGCTGTTCTCCCAAGACTTTAACAAGTTTGGCCAGGATCTGACCTAGTGATTAGATGTCTATGTTTCAACTGTCAGATAGTCATTTCTTCCCTTCCCCGTTCTGTACAAAACTACAACTGTAACTCACCTGATGAGAGCCTTAAAGGAGACTTGAATTAAAAGGGGCCTTAACCATAAAAAGAACGAGATCATGGTCTTTGCAGGAACAGAAAGCCAAATACCACATGCTCTCATTTATAAGTGGGAGCTAAATGATGAGAACATATGGACACAAAGAGGGGAACGACAGACACTGGGGCCTACCTGAGGGTGGAGGGTGGGAGGACAGAGAAGGGCAAAACTACTGGATACTAGGCTTAGTACCTGGGTGACAAAATAATCTGTACAACAAATCCCCGTGATATCATGAGTTTACCTATATAACAAACTTGCACATGTACCCCGGAACCTAAAATAAATGTTAAAAGAAAAAGCCGGGGGGAGCTTAATGTTAAGAAAGCACAATAGTGGTTGCCAGGGGCTGAGAGCGGGGAGAAATGGGGAGTTAGAGTTTAATGGCTATGAAGTTTCAGTGTAGGAGGATGAAAAGTTCTGGAGATAAATGTTGGTGATGGTTGCATAACAATGTGAATGTATTTAATACCACTGAACTGTACACTTAAAAATGGTCAACTTTATGTTATGTATATTTTATCACAATTTAGAAAGTGAGGGGGTCTTTGATGTGATCTCGCCCATTGTTCTGGAGAAGGAAACTGAACTCCAGAGAGAGAAAATAACTTGGTCGAGGTCACCTTAAGTCATGATAAGGCCAGGATTAAAACCTAGTCCTTTATGCTCTATCTACTACATTGCTCTGTCTCCCAATTTATAAATGCACTTCACCATGTAGGTTGAGAAGCTGATTCATACTAACCTCTCAGGAATGATAACTTCTAGCTTAAAAACACCTTTCTCATAAGGTGTGTTGGCTCCACCTAATATTTCTTAAAAGAAAAAAGAAAGAAAAAGTTAAAAGGGAATCAGATCATTTGAATTACTACCATATGGAGCTAATGAGGTCTATGGTCCTAATAGAGAAACTAGGCCTAGGACAATAATTCTCTGCCAGGACTTTAACAAGTCCTCATGCAACACACCACAATGCTAATGTACTCAAAAAGTTAATGGTGTCAAACAAAGGACATATAGAAAATCTAAAGCAGAAGTTGCAAAATGCTGGCCACAAGACCAAATACAACCTATAGATTTGTTTTGTTTGGACCG

Variant names:

Variant summary

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

The NM_014176.4(UBE2T):c.110-280_468+264dupCGGTCCAAACAAAACAAATCTATAGGTTGTATTTGGTCTTGTGGCCAGCATTTTGCAACTTCTGCTTTAGATTTTCTATATGTCCTTTGTTTGACACCATTAACTTTTTGAGTACATTAGCATTGTGGTGTGTTGCATGAGGACTTGTTAAAGTCCTGGCAGAGAATTATTGTCCTAGGCCTAGTTTCTCTATTAGGACCATAGACCTCATTAGCTCCATATGGTAGTAATTCAAATGATCTGATTCCCTTTTAACTTTTTCTTTCTTTTTTCTTTTAAGAAATATTAGGTGGAGCCAACACACCTTATGAGAAAGGTGTTTTTAAGCTAGAAGTTATCATTCCTGAGAGGTTAGTATGAATCAGCTTCTCAACCTACATGGTGAAGTGCATTTATAAATTGGGAGACAGAGCAATGTAGTAGATAGAGCATAAAGGACTAGGTTTTAATCCTGGCCTTATCATGACTTAAGGTGACCTCGACCAAGTTATTTTCTCTCTCTGGAGTTCAGTTTCCTTCTCCAGAACAATGGGCGAGATCACATCAAAGACCCCCTCACTTTCTAAATTGTGATAAAATATACATAACATAAAGTTGACCATTTTTAAGTGTACAGTTCAGTGGTATTAAATACATTCACATTGTTATGCAACCATCACCAACATTTATCTCCAGAACTTTTCATCCTCCTACACTGAAACTTCATAGCCATTAAACTCTAACTCCCCATTTCTCCCCGCTCTCAGCCCCTGGCAACCACTATTGTGCTTTCTTAACATTAAGCTCCCCCCGGCTTTTTCTTTTAACATTTATTTTAGGTTCCGGGGTACATGTGCAAGTTTGTTATATAGGTAAACTCATGATATCACGGGGATTTGTTGTACAGATTATTTTGTCACCCAGGTACTAAGCCTAGTATCCAGTAGTTTTGCCCTTCTCTGTCCTCCCACCCTCCACCCTCAGGTAGGCCCCAGTGTCTGTCGTTCCCCTCTTTGTGTCCATATGTTCTCATCATTTAGCTCCCACTTATAAATGAGAGCATGTGGTATTTGGCTTTCTGTTCCTGCAAAGACCATGATCTCGTTCTTTTTATGGTTAAGGCCCCTTTTAATTCAAGTCTCCTTTAAGGCTCTCATCAGGTGAGTTACAGTTGTAGTTTTGTACAGAACGGGGAAGGGAAGAAATGACTATCTGACAGTTGAAACATAGACATCTAATCACTAGGTCAGATCCTGGCCAAACTTGTTAAAGTCTTGGGAGAACAGCTTAATAATCATGTGGTGCATCAGTTCTAAAAATAGACTGGGAACTTTGCAAGGTCGGTGTCTCACTAAAGATACATAATAACCAAATGCAACGTATGAATTGTAATTGGGTCCTGTTTTGAAAAACCCAGCAATAAAAAAAAAAAACTGGGGAGAACAACTGAAATCTGAACAGTAAATGATATTAGGGAATTAGTTCTTAAATTTTTCAAAGGGGTAATAGTATTGCATTTATATGGGAGAATGTTCTTATTCTTAGAAGATATGCTGGAGTATTTAGAGGTAAAGTGGCTTGAATCCAGGTGGTAGATATATGGATGTTTTCAATACTGTTATTTCAAACTGATTTATTTTAAATTTTCATAGTGAAAATTTAGGAAGAGAGAAAGTTTGCCTCCCAAAGGCAGTCTCCCTGACATTTCTATAATACCAAAATTATTGTGACCAAGAAACTATTTAAATGTATTTAGAAGCAAAATTATGTAATGAAAATTATCTGTTGTCTTATTCTTTCATAGGTACCCATTTGAACCTCCTCAGATCCGATTTCTCACTCCAATTTATCATCCAAACATTGATTCTGCTGGAAGGATTTGTCTGGATGTTCTCAAATTGCCACCAAAAGTGAGTTGTGGGTAAATGGTTGACTCTACAGCATTCTGTTTTCTTCATCTATTAAACTTGAATTAGAGGATCACATTCTAATATAAAAGCAACTGTTCATCTGTTTGTATATAGGGTGCTTGGAGACCATCCCTCAACATCGCAACTGTGTTGACCTCTATTCAGCTGCTCATGTCAGAACCCAACCCTGATGACCCGCTCATGGCTGACATAGTAAATATCCCCATTTTCCTCTGCAACACATATCCTACCTTGTCTATACCGCTAACTCTCCCTGTGTGAGGATAGCTGCAGCAGCTCTAACCACTGCAAATCATGTTTTTCTCCATTAACTCTTTTCTTTGATTTCATCTCAGTCCTCAGAATTTAAATATAATAAGCCAGCCTTCCTCAAGAATGCCAGACAGTGGACAGAGAAGCATGCAAGACAGAAACAAAAGGTATAATGTTTGCTACTATTGTCAGTTAATTAAGTATATATAGTATAAAGTATATATGTATAAATAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT variant causes a intron 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: 29)

Consequence

UBE2T
NM_014176.4 intron

Scores

Not classified

Clinical Significance

Pathogenic no assertion criteria provided P:1

Conservation

PhyloP100: 0.00

Publications

0 publications found

Variant links:

Genes affected

UBE2T (HGNC:25009): (ubiquitin conjugating enzyme E2 T) The protein encoded by this gene catalyzes the covalent attachment of ubiquitin to protein substrates. Defects in this gene have been associated with Fanconi anemia of complementation group T. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

UBE2T Gene-Disease associations (from GenCC):

Fanconi anemia complementation group T
Inheritance: AR Classification: STRONG Submitted by: G2P, Labcorp Genetics (formerly Invitae)
Fanconi anemia
Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet

UBE2T 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 1-202332745-A-AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATTATTTATACATATATACTTTATACTATATATACTTAATTAACTGACAATAGTAGCAAACATTATACCTTTTGTTTCTGTCTTGCATGCTTCTCTGTCCACTGTCTGGCATTCTTGAGGAAGGCTGGCTTATTATATTTAAATTCTGAGGACTGAGATGAAATCAAAGAAAAGAGTTAATGGAGAAAAACATGATTTGCAGTGGTTAGAGCTGCTGCAGCTATCCTCACACAGGGAGAGTTAGCGGTATAGACAAGGTAGGATATGTGTTGCAGAGGAAAATGGGGATATTTACTATGTCAGCCATGAGCGGGTCATCAGGGTTGGGTTCTGACATGAGCAGCTGAATAGAGGTCAACACAGTTGCGATGTTGAGGGATGGTCTCCAAGCACCCTATATACAAACAGATGAACAGTTGCTTTTATATTAGAATGTGATCCTCTAATTCAAGTTTAATAGATGAAGAAAACAGAATGCTGTAGAGTCAACCATTTACCCACAACTCACTTTTGGTGGCAATTTGAGAACATCCAGACAAATCCTTCCAGCAGAATCAATGTTTGGATGATAAATTGGAGTGAGAAATCGGATCTGAGGAGGTTCAAATGGGTACCTATGAAAGAATAAGACAACAGATAATTTTCATTACATAATTTTGCTTCTAAATACATTTAAATAGTTTCTTGGTCACAATAATTTTGGTATTATAGAAATGTCAGGGAGACTGCCTTTGGGAGGCAAACTTTCTCTCTTCCTAAATTTTCACTATGAAAATTTAAAATAAATCAGTTTGAAATAACAGTATTGAAAACATCCATATATCTACCACCTGGATTCAAGCCACTTTACCTCTAAATACTCCAGCATATCTTCTAAGAATAAGAACATTCTCCCATATAAATGCAATACTATTACCCCTTTGAAAAATTTAAGAACTAATTCCCTAATATCATTTACTGTTCAGATTTCAGTTGTTCTCCCCAGTTTTTTTTTTTTATTGCTGGGTTTTTCAAAACAGGACCCAATTACAATTCATACGTTGCATTTGGTTATTATGTATCTTTAGTGAGACACCGACCTTGCAAAGTTCCCAGTCTATTTTTAGAACTGATGCACCACATGATTATTAAGCTGTTCTCCCAAGACTTTAACAAGTTTGGCCAGGATCTGACCTAGTGATTAGATGTCTATGTTTCAACTGTCAGATAGTCATTTCTTCCCTTCCCCGTTCTGTACAAAACTACAACTGTAACTCACCTGATGAGAGCCTTAAAGGAGACTTGAATTAAAAGGGGCCTTAACCATAAAAAGAACGAGATCATGGTCTTTGCAGGAACAGAAAGCCAAATACCACATGCTCTCATTTATAAGTGGGAGCTAAATGATGAGAACATATGGACACAAAGAGGGGAACGACAGACACTGGGGCCTACCTGAGGGTGGAGGGTGGGAGGACAGAGAAGGGCAAAACTACTGGATACTAGGCTTAGTACCTGGGTGACAAAATAATCTGTACAACAAATCCCCGTGATATCATGAGTTTACCTATATAACAAACTTGCACATGTACCCCGGAACCTAAAATAAATGTTAAAAGAAAAAGCCGGGGGGAGCTTAATGTTAAGAAAGCACAATAGTGGTTGCCAGGGGCTGAGAGCGGGGAGAAATGGGGAGTTAGAGTTTAATGGCTATGAAGTTTCAGTGTAGGAGGATGAAAAGTTCTGGAGATAAATGTTGGTGATGGTTGCATAACAATGTGAATGTATTTAATACCACTGAACTGTACACTTAAAAATGGTCAACTTTATGTTATGTATATTTTATCACAATTTAGAAAGTGAGGGGGTCTTTGATGTGATCTCGCCCATTGTTCTGGAGAAGGAAACTGAACTCCAGAGAGAGAAAATAACTTGGTCGAGGTCACCTTAAGTCATGATAAGGCCAGGATTAAAACCTAGTCCTTTATGCTCTATCTACTACATTGCTCTGTCTCCCAATTTATAAATGCACTTCACCATGTAGGTTGAGAAGCTGATTCATACTAACCTCTCAGGAATGATAACTTCTAGCTTAAAAACACCTTTCTCATAAGGTGTGTTGGCTCCACCTAATATTTCTTAAAAGAAAAAAGAAAGAAAAAGTTAAAAGGGAATCAGATCATTTGAATTACTACCATATGGAGCTAATGAGGTCTATGGTCCTAATAGAGAAACTAGGCCTAGGACAATAATTCTCTGCCAGGACTTTAACAAGTCCTCATGCAACACACCACAATGCTAATGTACTCAAAAAGTTAATGGTGTCAAACAAAGGACATATAGAAAATCTAAAGCAGAAGTTGCAAAATGCTGGCCACAAGACCAAATACAACCTATAGATTTGTTTTGTTTGGACCG is Pathogenic according to our data. Variant chr1-202332745-A-AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATTATTTATACATATATACTTTATACTATATATACTTAATTAACTGACAATAGTAGCAAACATTATACCTTTTGTTTCTGTCTTGCATGCTTCTCTGTCCACTGTCTGGCATTCTTGAGGAAGGCTGGCTTATTATATTTAAATTCTGAGGACTGAGATGAAATCAAAGAAAAGAGTTAATGGAGAAAAACATGATTTGCAGTGGTTAGAGCTGCTGCAGCTATCCTCACACAGGGAGAGTTAGCGGTATAGACAAGGTAGGATATGTGTTGCAGAGGAAAATGGGGATATTTACTATGTCAGCCATGAGCGGGTCATCAGGGTTGGGTTCTGACATGAGCAGCTGAATAGAGGTCAACACAGTTGCGATGTTGAGGGATGGTCTCCAAGCACCCTATATACAAACAGATGAACAGTTGCTTTTATATTAGAATGTGATCCTCTAATTCAAGTTTAATAGATGAAGAAAACAGAATGCTGTAGAGTCAACCATTTACCCACAACTCACTTTTGGTGGCAATTTGAGAACATCCAGACAAATCCTTCCAGCAGAATCAATGTTTGGATGATAAATTGGAGTGAGAAATCGGATCTGAGGAGGTTCAAATGGGTACCTATGAAAGAATAAGACAACAGATAATTTTCATTACATAATTTTGCTTCTAAATACATTTAAATAGTTTCTTGGTCACAATAATTTTGGTATTATAGAAATGTCAGGGAGACTGCCTTTGGGAGGCAAACTTTCTCTCTTCCTAAATTTTCACTATGAAAATTTAAAATAAATCAGTTTGAAATAACAGTATTGAAAACATCCATATATCTACCACCTGGATTCAAGCCACTTTACCTCTAAATACTCCAGCATATCTTCTAAGAATAAGAACATTCTCCCATATAAATGCAATACTATTACCCCTTTGAAAAATTTAAGAACTAATTCCCTAATATCATTTACTGTTCAGATTTCAGTTGTTCTCCCCAGTTTTTTTTTTTTATTGCTGGGTTTTTCAAAACAGGACCCAATTACAATTCATACGTTGCATTTGGTTATTATGTATCTTTAGTGAGACACCGACCTTGCAAAGTTCCCAGTCTATTTTTAGAACTGATGCACCACATGATTATTAAGCTGTTCTCCCAAGACTTTAACAAGTTTGGCCAGGATCTGACCTAGTGATTAGATGTCTATGTTTCAACTGTCAGATAGTCATTTCTTCCCTTCCCCGTTCTGTACAAAACTACAACTGTAACTCACCTGATGAGAGCCTTAAAGGAGACTTGAATTAAAAGGGGCCTTAACCATAAAAAGAACGAGATCATGGTCTTTGCAGGAACAGAAAGCCAAATACCACATGCTCTCATTTATAAGTGGGAGCTAAATGATGAGAACATATGGACACAAAGAGGGGAACGACAGACACTGGGGCCTACCTGAGGGTGGAGGGTGGGAGGACAGAGAAGGGCAAAACTACTGGATACTAGGCTTAGTACCTGGGTGACAAAATAATCTGTACAACAAATCCCCGTGATATCATGAGTTTACCTATATAACAAACTTGCACATGTACCCCGGAACCTAAAATAAATGTTAAAAGAAAAAGCCGGGGGGAGCTTAATGTTAAGAAAGCACAATAGTGGTTGCCAGGGGCTGAGAGCGGGGAGAAATGGGGAGTTAGAGTTTAATGGCTATGAAGTTTCAGTGTAGGAGGATGAAAAGTTCTGGAGATAAATGTTGGTGATGGTTGCATAACAATGTGAATGTATTTAATACCACTGAACTGTACACTTAAAAATGGTCAACTTTATGTTATGTATATTTTATCACAATTTAGAAAGTGAGGGGGTCTTTGATGTGATCTCGCCCATTGTTCTGGAGAAGGAAACTGAACTCCAGAGAGAGAAAATAACTTGGTCGAGGTCACCTTAAGTCATGATAAGGCCAGGATTAAAACCTAGTCCTTTATGCTCTATCTACTACATTGCTCTGTCTCCCAATTTATAAATGCACTTCACCATGTAGGTTGAGAAGCTGATTCATACTAACCTCTCAGGAATGATAACTTCTAGCTTAAAAACACCTTTCTCATAAGGTGTGTTGGCTCCACCTAATATTTCTTAAAAGAAAAAAGAAAGAAAAAGTTAAAAGGGAATCAGATCATTTGAATTACTACCATATGGAGCTAATGAGGTCTATGGTCCTAATAGAGAAACTAGGCCTAGGACAATAATTCTCTGCCAGGACTTTAACAAGTCCTCATGCAACACACCACAATGCTAATGTACTCAAAAAGTTAATGGTGTCAAACAAAGGACATATAGAAAATCTAAAGCAGAAGTTGCAAAATGCTGGCCACAAGACCAAATACAACCTATAGATTTGTTTTGTTTGGACCG is described in ClinVar as [Pathogenic]. Clinvar id is 929629.Status of the report is no_assertion_criteria_provided, 0 stars.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
UBE2T	NM_014176.4 link	c.110-280_468+264dupCGGTCCAAACAAAACAAATCTATAGGTTGTATTTGGTCTTGTGGCCAGCATTTTGCAACTTCTGCTTTAGATTTTCTATATGTCCTTTGTTTGACACCATTAACTTTTTGAGTACATTAGCATTGTGGTGTGTTGCATGAGGACTTGTTAAAGTCCTGGCAGAGAATTATTGTCCTAGGCCTAGTTTCTCTATTAGGACCATAGACCTCATTAGCTCCATATGGTAGTAATTCAAATGATCTGATTCCCTTTTAACTTTTTCTTTCTTTTTTCTTTTAAGAAATATTAGGTGGAGCCAACACACCTTATGAGAAAGGTGTTTTTAAGCTAGAAGTTATCATTCCTGAGAGGTTAGTATGAATCAGCTTCTCAACCTACATGGTGAAGTGCATTTATAAATTGGGAGACAGAGCAATGTAGTAGATAGAGCATAAAGGACTAGGTTTTAATCCTGGCCTTATCATGACTTAAGGTGACCTCGACCAAGTTATTTTCTCTCTCTGGAGTTCAGTTTCCTTCTCCAGAACAATGGGCGAGATCACATCAAAGACCCCCTCACTTTCTAAATTGTGATAAAATATACATAACATAAAGTTGACCATTTTTAAGTGTACAGTTCAGTGGTATTAAATACATTCACATTGTTATGCAACCATCACCAACATTTATCTCCAGAACTTTTCATCCTCCTACACTGAAACTTCATAGCCATTAAACTCTAACTCCCCATTTCTCCCCGCTCTCAGCCCCTGGCAACCACTATTGTGCTTTCTTAACATTAAGCTCCCCCCGGCTTTTTCTTTTAACATTTATTTTAGGTTCCGGGGTACATGTGCAAGTTTGTTATATAGGTAAACTCATGATATCACGGGGATTTGTTGTACAGATTATTTTGTCACCCAGGTACTAAGCCTAGTATCCAGTAGTTTTGCCCTTCTCTGTCCTCCCACCCTCCACCCTCAGGTAGGCCCCAGTGTCTGTCGTTCCCCTCTTTGTGTCCATATGTTCTCATCATTTAGCTCCCACTTATAAATGAGAGCATGTGGTATTTGGCTTTCTGTTCCTGCAAAGACCATGATCTCGTTCTTTTTATGGTTAAGGCCCCTTTTAATTCAAGTCTCCTTTAAGGCTCTCATCAGGTGAGTTACAGTTGTAGTTTTGTACAGAACGGGGAAGGGAAGAAATGACTATCTGACAGTTGAAACATAGACATCTAATCACTAGGTCAGATCCTGGCCAAACTTGTTAAAGTCTTGGGAGAACAGCTTAATAATCATGTGGTGCATCAGTTCTAAAAATAGACTGGGAACTTTGCAAGGTCGGTGTCTCACTAAAGATACATAATAACCAAATGCAACGTATGAATTGTAATTGGGTCCTGTTTTGAAAAACCCAGCAATAAAAAAAAAAAACTGGGGAGAACAACTGAAATCTGAACAGTAAATGATATTAGGGAATTAGTTCTTAAATTTTTCAAAGGGGTAATAGTATTGCATTTATATGGGAGAATGTTCTTATTCTTAGAAGATATGCTGGAGTATTTAGAGGTAAAGTGGCTTGAATCCAGGTGGTAGATATATGGATGTTTTCAATACTGTTATTTCAAACTGATTTATTTTAAATTTTCATAGTGAAAATTTAGGAAGAGAGAAAGTTTGCCTCCCAAAGGCAGTCTCCCTGACATTTCTATAATACCAAAATTATTGTGACCAAGAAACTATTTAAATGTATTTAGAAGCAAAATTATGTAATGAAAATTATCTGTTGTCTTATTCTTTCATAGGTACCCATTTGAACCTCCTCAGATCCGATTTCTCACTCCAATTTATCATCCAAACATTGATTCTGCTGGAAGGATTTGTCTGGATGTTCTCAAATTGCCACCAAAAGTGAGTTGTGGGTAAATGGTTGACTCTACAGCATTCTGTTTTCTTCATCTATTAAACTTGAATTAGAGGATCACATTCTAATATAAAAGCAACTGTTCATCTGTTTGTATATAGGGTGCTTGGAGACCATCCCTCAACATCGCAACTGTGTTGACCTCTATTCAGCTGCTCATGTCAGAACCCAACCCTGATGACCCGCTCATGGCTGACATAGTAAATATCCCCATTTTCCTCTGCAACACATATCCTACCTTGTCTATACCGCTAACTCTCCCTGTGTGAGGATAGCTGCAGCAGCTCTAACCACTGCAAATCATGTTTTTCTCCATTAACTCTTTTCTTTGATTTCATCTCAGTCCTCAGAATTTAAATATAATAAGCCAGCCTTCCTCAAGAATGCCAGACAGTGGACAGAGAAGCATGCAAGACAGAAACAAAAGGTATAATGTTTGCTACTATTGTCAGTTAATTAAGTATATATAGTATAAAGTATATATGTATAAATAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT		intron_variant	Intron 6 of 6	ENST00000646651.1	NP_054895.1	Q9NPD8A0A024R9A9
UBE2T	NM_001310326.2 link	c.20-280_378+264dupCGGTCCAAACAAAACAAATCTATAGGTTGTATTTGGTCTTGTGGCCAGCATTTTGCAACTTCTGCTTTAGATTTTCTATATGTCCTTTGTTTGACACCATTAACTTTTTGAGTACATTAGCATTGTGGTGTGTTGCATGAGGACTTGTTAAAGTCCTGGCAGAGAATTATTGTCCTAGGCCTAGTTTCTCTATTAGGACCATAGACCTCATTAGCTCCATATGGTAGTAATTCAAATGATCTGATTCCCTTTTAACTTTTTCTTTCTTTTTTCTTTTAAGAAATATTAGGTGGAGCCAACACACCTTATGAGAAAGGTGTTTTTAAGCTAGAAGTTATCATTCCTGAGAGGTTAGTATGAATCAGCTTCTCAACCTACATGGTGAAGTGCATTTATAAATTGGGAGACAGAGCAATGTAGTAGATAGAGCATAAAGGACTAGGTTTTAATCCTGGCCTTATCATGACTTAAGGTGACCTCGACCAAGTTATTTTCTCTCTCTGGAGTTCAGTTTCCTTCTCCAGAACAATGGGCGAGATCACATCAAAGACCCCCTCACTTTCTAAATTGTGATAAAATATACATAACATAAAGTTGACCATTTTTAAGTGTACAGTTCAGTGGTATTAAATACATTCACATTGTTATGCAACCATCACCAACATTTATCTCCAGAACTTTTCATCCTCCTACACTGAAACTTCATAGCCATTAAACTCTAACTCCCCATTTCTCCCCGCTCTCAGCCCCTGGCAACCACTATTGTGCTTTCTTAACATTAAGCTCCCCCCGGCTTTTTCTTTTAACATTTATTTTAGGTTCCGGGGTACATGTGCAAGTTTGTTATATAGGTAAACTCATGATATCACGGGGATTTGTTGTACAGATTATTTTGTCACCCAGGTACTAAGCCTAGTATCCAGTAGTTTTGCCCTTCTCTGTCCTCCCACCCTCCACCCTCAGGTAGGCCCCAGTGTCTGTCGTTCCCCTCTTTGTGTCCATATGTTCTCATCATTTAGCTCCCACTTATAAATGAGAGCATGTGGTATTTGGCTTTCTGTTCCTGCAAAGACCATGATCTCGTTCTTTTTATGGTTAAGGCCCCTTTTAATTCAAGTCTCCTTTAAGGCTCTCATCAGGTGAGTTACAGTTGTAGTTTTGTACAGAACGGGGAAGGGAAGAAATGACTATCTGACAGTTGAAACATAGACATCTAATCACTAGGTCAGATCCTGGCCAAACTTGTTAAAGTCTTGGGAGAACAGCTTAATAATCATGTGGTGCATCAGTTCTAAAAATAGACTGGGAACTTTGCAAGGTCGGTGTCTCACTAAAGATACATAATAACCAAATGCAACGTATGAATTGTAATTGGGTCCTGTTTTGAAAAACCCAGCAATAAAAAAAAAAAACTGGGGAGAACAACTGAAATCTGAACAGTAAATGATATTAGGGAATTAGTTCTTAAATTTTTCAAAGGGGTAATAGTATTGCATTTATATGGGAGAATGTTCTTATTCTTAGAAGATATGCTGGAGTATTTAGAGGTAAAGTGGCTTGAATCCAGGTGGTAGATATATGGATGTTTTCAATACTGTTATTTCAAACTGATTTATTTTAAATTTTCATAGTGAAAATTTAGGAAGAGAGAAAGTTTGCCTCCCAAAGGCAGTCTCCCTGACATTTCTATAATACCAAAATTATTGTGACCAAGAAACTATTTAAATGTATTTAGAAGCAAAATTATGTAATGAAAATTATCTGTTGTCTTATTCTTTCATAGGTACCCATTTGAACCTCCTCAGATCCGATTTCTCACTCCAATTTATCATCCAAACATTGATTCTGCTGGAAGGATTTGTCTGGATGTTCTCAAATTGCCACCAAAAGTGAGTTGTGGGTAAATGGTTGACTCTACAGCATTCTGTTTTCTTCATCTATTAAACTTGAATTAGAGGATCACATTCTAATATAAAAGCAACTGTTCATCTGTTTGTATATAGGGTGCTTGGAGACCATCCCTCAACATCGCAACTGTGTTGACCTCTATTCAGCTGCTCATGTCAGAACCCAACCCTGATGACCCGCTCATGGCTGACATAGTAAATATCCCCATTTTCCTCTGCAACACATATCCTACCTTGTCTATACCGCTAACTCTCCCTGTGTGAGGATAGCTGCAGCAGCTCTAACCACTGCAAATCATGTTTTTCTCCATTAACTCTTTTCTTTGATTTCATCTCAGTCCTCAGAATTTAAATATAATAAGCCAGCCTTCCTCAAGAATGCCAGACAGTGGACAGAGAAGCATGCAAGACAGAAACAAAAGGTATAATGTTTGCTACTATTGTCAGTTAATTAAGTATATATAGTATAAAGTATATATGTATAAATAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT		intron_variant	Intron 6 of 6		NP_001297255.1	Q9NPD8

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
UBE2T	ENST00000646651.1 link	c.468+264_468+265insCGGTCCAAACAAAACAAATCTATAGGTTGTATTTGGTCTTGTGGCCAGCATTTTGCAACTTCTGCTTTAGATTTTCTATATGTCCTTTGTTTGACACCATTAACTTTTTGAGTACATTAGCATTGTGGTGTGTTGCATGAGGACTTGTTAAAGTCCTGGCAGAGAATTATTGTCCTAGGCCTAGTTTCTCTATTAGGACCATAGACCTCATTAGCTCCATATGGTAGTAATTCAAATGATCTGATTCCCTTTTAACTTTTTCTTTCTTTTTTCTTTTAAGAAATATTAGGTGGAGCCAACACACCTTATGAGAAAGGTGTTTTTAAGCTAGAAGTTATCATTCCTGAGAGGTTAGTATGAATCAGCTTCTCAACCTACATGGTGAAGTGCATTTATAAATTGGGAGACAGAGCAATGTAGTAGATAGAGCATAAAGGACTAGGTTTTAATCCTGGCCTTATCATGACTTAAGGTGACCTCGACCAAGTTATTTTCTCTCTCTGGAGTTCAGTTTCCTTCTCCAGAACAATGGGCGAGATCACATCAAAGACCCCCTCACTTTCTAAATTGTGATAAAATATACATAACATAAAGTTGACCATTTTTAAGTGTACAGTTCAGTGGTATTAAATACATTCACATTGTTATGCAACCATCACCAACATTTATCTCCAGAACTTTTCATCCTCCTACACTGAAACTTCATAGCCATTAAACTCTAACTCCCCATTTCTCCCCGCTCTCAGCCCCTGGCAACCACTATTGTGCTTTCTTAACATTAAGCTCCCCCCGGCTTTTTCTTTTAACATTTATTTTAGGTTCCGGGGTACATGTGCAAGTTTGTTATATAGGTAAACTCATGATATCACGGGGATTTGTTGTACAGATTATTTTGTCACCCAGGTACTAAGCCTAGTATCCAGTAGTTTTGCCCTTCTCTGTCCTCCCACCCTCCACCCTCAGGTAGGCCCCAGTGTCTGTCGTTCCCCTCTTTGTGTCCATATGTTCTCATCATTTAGCTCCCACTTATAAATGAGAGCATGTGGTATTTGGCTTTCTGTTCCTGCAAAGACCATGATCTCGTTCTTTTTATGGTTAAGGCCCCTTTTAATTCAAGTCTCCTTTAAGGCTCTCATCAGGTGAGTTACAGTTGTAGTTTTGTACAGAACGGGGAAGGGAAGAAATGACTATCTGACAGTTGAAACATAGACATCTAATCACTAGGTCAGATCCTGGCCAAACTTGTTAAAGTCTTGGGAGAACAGCTTAATAATCATGTGGTGCATCAGTTCTAAAAATAGACTGGGAACTTTGCAAGGTCGGTGTCTCACTAAAGATACATAATAACCAAATGCAACGTATGAATTGTAATTGGGTCCTGTTTTGAAAAACCCAGCAATAAAAAAAAAAAACTGGGGAGAACAACTGAAATCTGAACAGTAAATGATATTAGGGAATTAGTTCTTAAATTTTTCAAAGGGGTAATAGTATTGCATTTATATGGGAGAATGTTCTTATTCTTAGAAGATATGCTGGAGTATTTAGAGGTAAAGTGGCTTGAATCCAGGTGGTAGATATATGGATGTTTTCAATACTGTTATTTCAAACTGATTTATTTTAAATTTTCATAGTGAAAATTTAGGAAGAGAGAAAGTTTGCCTCCCAAAGGCAGTCTCCCTGACATTTCTATAATACCAAAATTATTGTGACCAAGAAACTATTTAAATGTATTTAGAAGCAAAATTATGTAATGAAAATTATCTGTTGTCTTATTCTTTCATAGGTACCCATTTGAACCTCCTCAGATCCGATTTCTCACTCCAATTTATCATCCAAACATTGATTCTGCTGGAAGGATTTGTCTGGATGTTCTCAAATTGCCACCAAAAGTGAGTTGTGGGTAAATGGTTGACTCTACAGCATTCTGTTTTCTTCATCTATTAAACTTGAATTAGAGGATCACATTCTAATATAAAAGCAACTGTTCATCTGTTTGTATATAGGGTGCTTGGAGACCATCCCTCAACATCGCAACTGTGTTGACCTCTATTCAGCTGCTCATGTCAGAACCCAACCCTGATGACCCGCTCATGGCTGACATAGTAAATATCCCCATTTTCCTCTGCAACACATATCCTACCTTGTCTATACCGCTAACTCTCCCTGTGTGAGGATAGCTGCAGCAGCTCTAACCACTGCAAATCATGTTTTTCTCCATTAACTCTTTTCTTTGATTTCATCTCAGTCCTCAGAATTTAAATATAATAAGCCAGCCTTCCTCAAGAATGCCAGACAGTGGACAGAGAAGCATGCAAGACAGAAACAAAAGGTATAATGTTTGCTACTATTGTCAGTTAATTAAGTATATATAGTATAAAGTATATATGTATAAATAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT		intron_variant	Intron 6 of 6		NM_014176.4	ENSP00000494957.1		Q9NPD8

Frequencies

GnomAD3 genomes

Cov.:

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome

Cov.:

ClinVar

Significance: Pathogenic

Submissions summary: Pathogenic:1

Revision: no assertion criteria provided

LINK: link

Submissions by phenotype

Fanconi anemia complementation group T

Pathogenic:1

Dec 04, 2019

Leiden Open Variation Database

Significance:Pathogenic

Review Status:no assertion criteria provided

Collection Method:curation

Curator: Arleen D. Auerbach. Submitter to LOVD: Francis Lach. -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

PhyloP100

0.0

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

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

Other links and lift over