19-1205638-G-T

Variant summary

Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1

The ENST00000585748.3(STK11):​c.-82-12779G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.16 in 151,982 control chromosomes in the GnomAD database, including 2,125 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

Frequency

Genomes: 𝑓 0.16 ( 2125 hom., cov: 32)

Consequence

STK11
ENST00000585748.3 intron

Scores

2

Clinical Significance

Benign criteria provided, multiple submitters, no conflicts B:2

Conservation

PhyloP100: 1.49
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]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -20 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.53).
BP6
Variant 19-1205638-G-T is Benign according to our data. Variant chr19-1205638-G-T is described in ClinVar as [Benign]. Clinvar id is 1276994.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.315 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
STK11ENST00000585748.3 linkuse as main transcriptc.-82-12779G>T intron_variant 3 ENSP00000477641

Frequencies

GnomAD3 genomes
AF:
0.160
AC:
24243
AN:
151864
Hom.:
2124
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.107
Gnomad AMI
AF:
0.169
Gnomad AMR
AF:
0.110
Gnomad ASJ
AF:
0.173
Gnomad EAS
AF:
0.327
Gnomad SAS
AF:
0.224
Gnomad FIN
AF:
0.195
Gnomad MID
AF:
0.192
Gnomad NFE
AF:
0.179
Gnomad OTH
AF:
0.160
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.160
AC:
24247
AN:
151982
Hom.:
2125
Cov.:
32
AF XY:
0.162
AC XY:
12036
AN XY:
74294
show subpopulations
Gnomad4 AFR
AF:
0.107
Gnomad4 AMR
AF:
0.110
Gnomad4 ASJ
AF:
0.173
Gnomad4 EAS
AF:
0.328
Gnomad4 SAS
AF:
0.224
Gnomad4 FIN
AF:
0.195
Gnomad4 NFE
AF:
0.179
Gnomad4 OTH
AF:
0.157
Alfa
AF:
0.0831
Hom.:
106
Bravo
AF:
0.152
Asia WGS
AF:
0.217
AC:
755
AN:
3472

ClinVar

Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link

Submissions by phenotype

not provided Benign:2
Benign, criteria provided, single submitternot providedBreakthrough Genomics, Breakthrough Genomics-- -
Benign, criteria provided, single submitterclinical testingGeneDxJan 10, 2019- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.53
CADD
Benign
11
DANN
Benign
0.87

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs74720037; hg19: chr19-1205637; API