NM_000391.4(TPP1):c.1563C>G (p.Gly521=) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 30, 2018
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:: RCV000927922.7

Allele description [Variation Report for NM_000391.4(TPP1):c.1563C>G (p.Gly521=)]

NM_000391.4(TPP1):c.1563C>G (p.Gly521=)

Gene:

TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000391.4(TPP1):c.1563C>G (p.Gly521=)

HGVS:

NC_000011.10:g.6614675G>C
NG_008653.1:g.9787C>G
NM_000391.4:c.1563C>GMANE SELECT
NP_000382.3:p.Gly521=
LRG_830t1:c.1563C>G
LRG_830:g.9787C>G
LRG_830p1:p.Gly521=
NC_000011.9:g.6635906G>C
NC_000011.9:g.6635906G>C
NM_000391.3:c.1563C>G

Links:

dbSNP: rs1589947366

NCBI 1000 Genomes Browser:

rs1589947366

Molecular consequence:

NM_000391.4:c.1563C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

squalene-hopene cyclase [Burkholderia pseudomallei]
squalene-hopene cyclase [Burkholderia pseudomallei]
gi|2632884139|emb|CAK1568797.1||gnl CAVL|CAK1568797

Protein
Ribitol 2-dehydrogenase [Klebsiella pneumoniae]
Ribitol 2-dehydrogenase [Klebsiella pneumoniae]
gi|1789267716|emb|CAA1275230.1||gnl UKKH|CAA1275230

Protein
RecName: Full=Stemod-13(17)-ene synthase; AltName: Full=Ent-kaurene synthase-lik...
RecName: Full=Stemod-13(17)-ene synthase; AltName: Full=Ent-kaurene synthase-like 11; Short=OsKSL11; AltName: Full=Stemodene synthase
gi|122243798|sp|Q1AHB2.1|KSL11_ORYS

Protein
RecName: Full=Probable squalene--hopene cyclase; AltName: Full=Squalene--hopanol...
RecName: Full=Probable squalene--hopene cyclase; AltName: Full=Squalene--hopanol cyclase
gi|2500864|sp|P55348.1|SQHC_SINFN

Protein
RecName: Full=DNA repair nuclease/redox regulator APEX1; AltName: Full=APEX nucl...
RecName: Full=DNA repair nuclease/redox regulator APEX1; AltName: Full=APEX nuclease; Short=APEN; AltName: Full=Apurinic-apyrimidinic endonuclease 1; Short=AP endonuclease 1; AltName: Full=Redox factor-1; Short=REF-1; Contains: RecName: Full=DNA repair nuclease/redox regulator APEX1, mitochondrial
gi|113983|sp|P23196.2|APEX1_BOVIN

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001073522	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Aug 30, 2018)	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

SCV001073522

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Aug 30, 2018)

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, SCV001073522.4

#	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

ClinVar

Relating variation to medicine