NM_000548.5(TSC2):c.1820C>G (p.Ala607Gly) AND Tuberous sclerosis 2

Germline classification:: Benign (1 submission)
Last evaluated:: Dec 6, 2022
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:: RCV001905856.6

Allele description [Variation Report for NM_000548.5(TSC2):c.1820C>G (p.Ala607Gly)]

NM_000548.5(TSC2):c.1820C>G (p.Ala607Gly)

Gene:

TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000548.5(TSC2):c.1820C>G (p.Ala607Gly)

HGVS:

NC_000016.10:g.2070559C>G
NG_005895.1:g.26254C>G
NM_000548.5:c.1820C>GMANE SELECT
NM_001077183.3:c.1820C>G
NM_001114382.3:c.1820C>G
NM_001318827.2:c.1709C>G
NM_001318829.2:c.1673C>G
NM_001318831.2:c.1220C>G
NM_001318832.2:c.1853C>G
NM_001363528.2:c.1820C>G
NM_001370404.1:c.1820C>G
NM_001370405.1:c.1820C>G
NM_021055.3:c.1820C>G
NP_000539.2:p.Ala607Gly
NP_001070651.1:p.Ala607Gly
NP_001107854.1:p.Ala607Gly
NP_001305756.1:p.Ala570Gly
NP_001305758.1:p.Ala558Gly
NP_001305760.1:p.Ala407Gly
NP_001305761.1:p.Ala618Gly
NP_001350457.1:p.Ala607Gly
NP_001357333.1:p.Ala607Gly
NP_001357334.1:p.Ala607Gly
NP_066399.2:p.Ala607Gly
LRG_487:g.26254C>G
NC_000016.9:g.2120560C>G

Protein change:

A407G

Links:

dbSNP: rs397515296

NCBI 1000 Genomes Browser:

rs397515296

Molecular consequence:

NM_000548.5:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001077183.3:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001114382.3:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318827.2:c.1709C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318829.2:c.1673C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318831.2:c.1220C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318832.2:c.1853C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001363528.2:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370404.1:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370405.1:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_021055.3:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Tuberous sclerosis 2 (TSC2)
Identifiers:: MONDO: MONDO:0013199; MedGen: C1860707; Orphanet: 805; OMIM: 613254

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LOC107591362 [Sinocyclocheilus grahami]
LOC107591362 [Sinocyclocheilus grahami]
Gene ID:107591362

Gene
Mre11a MRE11A homolog A, double strand break repair nuclease [Mus musculus]
Mre11a MRE11A homolog A, double strand break repair nuclease [Mus musculus]
Gene ID:17535

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002149030	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Dec 6, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002149030

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Dec 6, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002149030.3

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

#	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: Sep 29, 2024

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