GeneBe

chr19-1205822-G-GGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACAC

Position:

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP6_Moderate

The NM_000455.5(STK11):​c.-92_-91insAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACACGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAA variant causes a 5 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 Likely benign (★).

Frequency

Genomes: not found (cov: 31)

Consequence

STK11
NM_000455.5 5_prime_UTR

Scores

Not classified

Clinical Significance

Likely benign criteria provided, single submitter B:1

Conservation

PhyloP100: 0.189
Variant links:
Genes affected
STK11 (HGNC:11389): (serine/threonine kinase 11) The protein encoded by this gene is a serine/threonine kinase that regulates cell polarity and energy metabolism and functions as a tumor suppressor. Mutations in this gene have been associated with the autosomal dominant Peutz-Jeghers syndrome, as well as with skin, pancreatic, and testicular cancers. [provided by RefSeq, May 2022]

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP6
Variant 19-1205822-G-GGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACAC is Benign according to our data. Variant chr19-1205822-G-GGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACAC is described in ClinVar as [Likely_benign]. Clinvar id is 3231731.Status of the report is criteria_provided_single_submitter, 1 stars.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
STK11NM_000455.5 linkuse as main transcriptc.-92_-91insAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACACGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAA 5_prime_UTR_variant 1/10 ENST00000326873.12 NP_000446.1
STK11NM_001407255.1 linkuse as main transcriptc.-92_-91insAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACACGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAA 5_prime_UTR_variant 1/9 NP_001394184.1
STK11NR_176325.1 linkuse as main transcriptn.1045_1046insAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACACGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAA non_coding_transcript_exon_variant 1/11

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
STK11ENST00000326873.12 linkuse as main transcriptc.-92_-91insAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACACGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAA 5_prime_UTR_variant 1/101 NM_000455.5 ENSP00000324856 P1Q15831-1
STK11ENST00000585465.3 linkuse as main transcriptc.-92_-91insAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACACGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAA 5_prime_UTR_variant 1/105 ENSP00000490268
STK11ENST00000585748.3 linkuse as main transcriptc.-82-11595_-82-11594insAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACACGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAA intron_variant 3 ENSP00000477641

Frequencies

GnomAD3 genomes
Cov.:
31
GnomAD4 exome
Cov.:
0
GnomAD4 genome
Cov.:
31

ClinVar

Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

Hereditary cancer-predisposing syndrome Benign:1
Likely benign, criteria provided, single submitterclinical testingAmbry GeneticsDec 01, 2023This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -

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: chr19-1205821; API