chr19-1205798-G-GGCGTGTCGGGCGCGGAAGGGGGAGGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAA

Position:

• chr19-1205798-G-GGCGTGTCGGGCGCGGAAGGGGGAGGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAA

Variant summary

Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PVS1 PM2

The NM_000455.5(STK11):​c.-1114_290+1dupCGTGTCGGGCGCGGAAGGGGGAGGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAG variant causes a splice donor, intron 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 Uncertain significance (★).

• Frequency: Genomes: not found (cov: 32)
• Consequence: STK11 NM_000455.5 splice_donor, intron
• Clinical Significance: Uncertain significance criteria provided, single submitter U:1
• Conservation: PhyloP100: 2.42

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]

STK11 (HGNC:):

ACMG classification

Verdict is Pathogenic. Variant got 10 ACMG points.

• PVS1: Splicing +-2 bp (donor or acceptor) variant, LoF is a know mechanism of disease,
• PM2: Very rare variant in population databases, with high coverage

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
STK11	NM_000455.5	c.-1114_290+1dupCGTGTCGGGCGCGGAAGGGGGAGGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAG		splice_donor_variant, intron_variant		ENST00000326873.12	NP_000446.1
STK11	NM_001407255.1	c.-1114_290+1dupCGTGTCGGGCGCGGAAGGGGGAGGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAG		splice_donor_variant, intron_variant			NP_001394184.1
STK11	NR_176325.1	n.23_1426+1dupCGTGTCGGGCGCGGAAGGGGGAGGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAG		splice_donor_variant, intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
STK11	ENST00000326873.12	c.-1114_290+1dupCGTGTCGGGCGCGGAAGGGGGAGGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAG		splice_donor_variant, intron_variant		1	NM_000455.5	ENSP00000324856.6
STK11	ENST00000652231.1	c.-1114_290+1dupCGTGTCGGGCGCGGAAGGGGGAGGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAG		splice_donor_variant, intron_variant				ENSP00000498804.1
STK11	ENST00000585748.3	c.-82-12617_-82-11213dupCGTGTCGGGCGCGGAAGGGGGAGGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAG		intron_variant		3		ENSP00000477641.2
STK11	ENST00000593219.5	n.-1114_290+1dupCGTGTCGGGCGCGGAAGGGGGAGGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAG		splice_donor_variant, intron_variant		3		ENSP00000466610.1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 32

ClinVar

Significance: Uncertain significance

Submissions summary: Uncertain:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Uncertain:1

Uncertain significance, criteria provided, single submitter

clinical testing

Quest Diagnostics Nichols Institute San Juan Capistrano

Dec 24, 2019

- -

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: chr19-1205797;