16-2088493-C-T

Variant names:

• chr16-2088493-C-T
• rs562220073
• NM_000548.5:c.5307C>T

Variant summary

Our verdict is Benign. The variant received -13 ACMG points: 0P and 13B. BP4_Strong BP6_Very_Strong BP7

The NM_000548.5(TSC2):​c.5307C>T​(p.His1769His) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000347 in 1,612,768 control chromosomes in the GnomAD database, with no homozygous occurrence. There is a variant allele frequency bias in the population database for this variant (GnomAd4), which may indicate mosaicism or somatic mutations in the reference population data. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).

• Frequency:
  • Genomes: 𝑓 0.000039 (0 hom., cov: 33)
  • Exomes 𝑓: 0.000034 (0 hom.)
• Consequence: TSC2 NM_000548.5 synonymous
• Clinical Significance: Benign/Likely benign criteria provided, multiple submitters, no conflicts B:6
• Conservation: PhyloP100: -0.323
• Publications: 2 publications found

Genes affected

TSC2 (HGNC:12363): (TSC complex subunit 2) This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]

PKD1 (HGNC:9008): (polycystin 1, transient receptor potential channel interacting) This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]

PKD1 Gene-Disease associations (from GenCC):

• autosomal dominant polycystic kidney disease

  Inheritance: AD Classification: DEFINITIVE, SUPPORTIVE Submitted by: ClinGen, Orphanet
• polycystic kidney disease 1

  Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Laboratory for Molecular Medicine, Genomics England PanelApp, Labcorp Genetics (formerly Invitae)
• autosomal recessive polycystic kidney disease

  Inheritance: AR Classification: DEFINITIVE Submitted by: ClinGen
• Caroli disease

  Inheritance: AD Classification: STRONG Submitted by: Genomics England PanelApp

ACMG classification

Our verdict: Benign. The variant received -13 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.7).
• BP6: Variant 16-2088493-C-T is Benign according to our data. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-2088493-C-T is described in CliVar as Benign/Likely_benign. Clinvar id is 388362.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
• BP7: Synonymous conserved (PhyloP=-0.323 with no splicing effect.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TSC2	NM_000548.5	c.5307C>T	p.His1769His	synonymous_variant	Exon 42 of 42	ENST00000219476.9	NP_000539.2
PKD1	NM_001009944.3	c.*1234G>A		downstream_gene_variant		ENST00000262304.9	NP_001009944.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
TSC2	ENST00000219476.9	c.5307C>T	p.His1769His	synonymous_variant	Exon 42 of 42	5	NM_000548.5	ENSP00000219476.3
PKD1	ENST00000262304.9	c.*1234G>A		downstream_gene_variant		1	NM_001009944.3	ENSP00000262304.4

Frequencies

GnomAD3 genomes AF: 0.0000394 AC: 6 AN: 152186 Hom.: 0 Cov.: 33

Gnomad AFR AF: 0.0000965

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0000654

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000147

Gnomad OTH AF: 0.00

GnomAD2 exomes AF: 0.0000400 AC: 10 AN: 250172 AF XY: 0.0000516

Gnomad AFR exome AF: 0.00

Gnomad AMR exome AF: 0.0000868

Gnomad ASJ exome AF: 0.00

Gnomad EAS exome AF: 0.000163

Gnomad FIN exome AF: 0.0000464

Gnomad NFE exome AF: 0.0000266

Gnomad OTH exome AF: 0.00

GnomAD4 exome AF: 0.0000342 AC: 50 AN: 1460582 Hom.: 0 Cov.: 33 AF XY: 0.0000317 AC XY: 23 AN XY: 726588

African (AFR) AF: 0.0000597 AC: 2 AN: 33480

American (AMR) AF: 0.0000894 AC: 4 AN: 44720

Ashkenazi Jewish (ASJ) AF: 0.0000383 AC: 1 AN: 26136

East Asian (EAS) AF: 0.000227 AC: 9 AN: 39700

South Asian (SAS) AF: 0.00 AC: 0 AN: 86258

European-Finnish (FIN) AF: 0.0000192 AC: 1 AN: 52150

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 5768

European-Non Finnish (NFE) AF: 0.0000288 AC: 32 AN: 1111990

Other (OTH) AF: 0.0000166 AC: 1 AN: 60380

GnomAD4 genome AF: 0.0000394 AC: 6 AN: 152186 Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2 AN XY: 74340

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.

African (AFR) AF: 0.0000965 AC: 4 AN: 41436

American (AMR) AF: 0.0000654 AC: 1 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3470

East Asian (EAS) AF: 0.00 AC: 0 AN: 5178

South Asian (SAS) AF: 0.00 AC: 0 AN: 4834

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 10624

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 316

European-Non Finnish (NFE) AF: 0.0000147 AC: 1 AN: 68032

Other (OTH) AF: 0.00 AC: 0 AN: 2094

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5. (p-value = 0.010105), which strongly suggests a high chance of mosaicism in these individuals.

Alfa AF: 0.0000542 Hom.: 0

Bravo AF: 0.0000302

Asia WGS AF: 0.000289 AC: 1 AN: 3478

EpiCase AF: 0.00

EpiControl AF: 0.0000593

ClinVar

Significance: Benign/Likely benign

Submissions summary: Benign:6

Revision: criteria provided, multiple submitters, no conflicts

Submissions by phenotype

Tuberous sclerosis 2 Benign:3

Jun 06, 2025

Myriad Genetics, Inc.

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. -

Jan 29, 2025

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Nov 07, 2021

Genome-Nilou Lab

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Tuberous sclerosis syndrome Benign:1

Apr 16, 2024

All of Us Research Program, National Institutes of Health

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

not provided Benign:1

Feb 21, 2019

GeneDx

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Hereditary cancer-predisposing syndrome Benign:1

Jun 09, 2015

Ambry Genetics

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

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

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.70
CADD	Benign	0.79
DANN	Benign	0.43
PhyloP100		-0.32
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.7

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.10		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs562220073; hg19: chr16-2138494;