19-1205822-G-GGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACAC

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2 BP6_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
• Clinical Significance: Likely benign criteria provided, single submitter B:1
• Conservation: PhyloP100: 0.189

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]

ACMG classification

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	UniProt
STK11	NM_000455.5	c.-92_-91insAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACACGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAA		5_prime_UTR_variant	1/10	ENST00000326873.12
STK11	NM_001407255.1	c.-92_-91insAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACACGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAA		5_prime_UTR_variant	1/9
STK11	NR_176325.1	n.1045_1046insAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACACGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAA		non_coding_transcript_exon_variant	1/11

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
STK11	ENST00000326873.12	c.-92_-91insAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACACGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAA		5_prime_UTR_variant	1/10	1	NM_000455.5	P1
STK11	ENST00000585465.3	c.-92_-91insAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACACGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAA		5_prime_UTR_variant	1/10	5
STK11	ENST00000585748.3	c.-82-11595_-82-11594insAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACACGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAA		intron_variant		3

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

Submissions by phenotype

Hereditary cancer-predisposing syndrome Benign:1

Likely benign, criteria provided, single submitter

clinical testing

Ambry Genetics

Dec 01, 2023

This 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

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;