NM_000368.5(TSC1):c.2610C>G (p.His870Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 24, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002437177.2

Allele description [Variation Report for NM_000368.5(TSC1):c.2610C>G (p.His870Gln)]

NM_000368.5(TSC1):c.2610C>G (p.His870Gln)

Gene:

TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

Preferred name:

NM_000368.5(TSC1):c.2610C>G (p.His870Gln)

HGVS:

NC_000009.12:g.132900730G>C
NG_012386.1:g.48904C>G
NM_000368.5:c.2610C>GMANE SELECT
NM_001162426.2:c.2607C>G
NM_001162427.2:c.2457C>G
NM_001362177.2:c.2247C>G
NM_001406592.1:c.2610C>G
NM_001406593.1:c.2610C>G
NM_001406594.1:c.2610C>G
NM_001406595.1:c.2610C>G
NM_001406596.1:c.2610C>G
NM_001406597.1:c.2607C>G
NM_001406598.1:c.2607C>G
NM_001406599.1:c.2607C>G
NM_001406600.1:c.2607C>G
NM_001406601.1:c.2595C>G
NM_001406602.1:c.2595C>G
NM_001406603.1:c.2592C>G
NM_001406604.1:c.2592C>G
NM_001406605.1:c.2568C>G
NM_001406606.1:c.2568C>G
NM_001406607.1:c.2568C>G
NM_001406608.1:c.2565C>G
NM_001406609.1:c.2565C>G
NM_001406610.1:c.2457C>G
NM_001406611.1:c.2454C>G
NM_001406612.1:c.2454C>G
NM_001406613.1:c.2412C>G
NM_001406614.1:c.2247C>G
NM_001406615.1:c.2247C>G
NM_001406616.1:c.2247C>G
NM_001406617.1:c.2247C>G
NM_001406618.1:c.2247C>G
NM_001406619.1:c.2247C>G
NM_001406620.1:c.2244C>G
NM_001406621.1:c.2244C>G
NM_001406622.1:c.2244C>G
NM_001406623.1:c.2244C>G
NM_001406624.1:c.2205C>G
NM_001406625.1:c.2202C>G
NM_001406626.1:c.1659C>G
NM_001406627.1:c.1656C>G
NM_001406628.1:c.1656C>G
NM_001406629.1:c.1557C>G
NM_001406630.1:c.1557C>G
NP_000359.1:p.His870Gln
NP_000359.1:p.His870Gln
NP_000359.1:p.His870Gln
NP_001155898.1:p.His869Gln
NP_001155899.1:p.His819Gln
NP_001349106.1:p.His749Gln
NP_001393521.1:p.His870Gln
NP_001393522.1:p.His870Gln
NP_001393523.1:p.His870Gln
NP_001393524.1:p.His870Gln
NP_001393525.1:p.His870Gln
NP_001393526.1:p.His869Gln
NP_001393527.1:p.His869Gln
NP_001393528.1:p.His869Gln
NP_001393529.1:p.His869Gln
NP_001393530.1:p.His865Gln
NP_001393531.1:p.His865Gln
NP_001393532.1:p.His864Gln
NP_001393533.1:p.His864Gln
NP_001393534.1:p.His856Gln
NP_001393535.1:p.His856Gln
NP_001393536.1:p.His856Gln
NP_001393537.1:p.His855Gln
NP_001393538.1:p.His855Gln
NP_001393539.1:p.His819Gln
NP_001393540.1:p.His818Gln
NP_001393541.1:p.His818Gln
NP_001393542.1:p.His804Gln
NP_001393543.1:p.His749Gln
NP_001393544.1:p.His749Gln
NP_001393545.1:p.His749Gln
NP_001393546.1:p.His749Gln
NP_001393547.1:p.His749Gln
NP_001393548.1:p.His749Gln
NP_001393549.1:p.His748Gln
NP_001393550.1:p.His748Gln
NP_001393551.1:p.His748Gln
NP_001393552.1:p.His748Gln
NP_001393553.1:p.His735Gln
NP_001393554.1:p.His734Gln
NP_001393555.1:p.His553Gln
NP_001393556.1:p.His552Gln
NP_001393557.1:p.His552Gln
NP_001393558.1:p.His519Gln
NP_001393559.1:p.His519Gln
LRG_486t1:c.2610C>G
LRG_486:g.48904C>G
LRG_486p1:p.His870Gln
NC_000009.11:g.135776117G>C
NM_000368.3:c.2610C>G
NM_000368.4:c.2610C>G
NR_176214.1:n.2660C>G
NR_176215.1:n.2827C>G
NR_176216.1:n.2694C>G
NR_176217.1:n.2824C>G
NR_176218.1:n.2823C>G

Protein change:

H519Q

Molecular consequence:

NM_000368.5:c.2610C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001162426.2:c.2607C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001162427.2:c.2457C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001362177.2:c.2247C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406592.1:c.2610C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406593.1:c.2610C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406594.1:c.2610C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406595.1:c.2610C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406596.1:c.2610C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406597.1:c.2607C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406598.1:c.2607C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406599.1:c.2607C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406600.1:c.2607C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406601.1:c.2595C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406602.1:c.2595C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406603.1:c.2592C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406604.1:c.2592C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406605.1:c.2568C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406606.1:c.2568C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406607.1:c.2568C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406608.1:c.2565C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406609.1:c.2565C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406610.1:c.2457C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406611.1:c.2454C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406612.1:c.2454C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406613.1:c.2412C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406614.1:c.2247C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406615.1:c.2247C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406616.1:c.2247C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406617.1:c.2247C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406618.1:c.2247C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406619.1:c.2247C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406620.1:c.2244C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406621.1:c.2244C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406622.1:c.2244C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406623.1:c.2244C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406624.1:c.2205C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406625.1:c.2202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406626.1:c.1659C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406627.1:c.1656C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406628.1:c.1656C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406629.1:c.1557C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406630.1:c.1557C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002745561	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Aug 24, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002745561

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Aug 24, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002745561.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.H870Q variant (also known as c.2610C>G), located in coding exon 18 of the TSC1 gene, results from a C to G substitution at nucleotide position 2610. The histidine at codon 870 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine