NM_015450.3(POT1):c.1007-11del AND Tumor predisposition syndrome 3

Germline classification:: Benign (1 submission)
Last evaluated:: Sep 19, 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:: RCV002146115.7

Allele description [Variation Report for NM_015450.3(POT1):c.1007-11del]

NM_015450.3(POT1):c.1007-11del

Gene:

POT1:protection of telomeres 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q31.33

Genomic location:

Preferred name:

NM_015450.3(POT1):c.1007-11del

HGVS:

NC_000007.14:g.124842978del
NG_029232.1:g.92010del
NM_001042594.2:c.614-11del
NM_015450.3:c.1007-11delMANE SELECT
NC_000007.13:g.124483028del
NC_000007.13:g.124483032del

Links:

dbSNP: rs1304104982

NCBI 1000 Genomes Browser:

rs1304104982

Molecular consequence:

NM_001042594.2:c.614-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_015450.3:c.1007-11del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Tumor predisposition syndrome 3 (TPDS3)
Synonyms:: Melanoma, cutaneous malignant, susceptibility to, 10; LONG TELOMERE SYNDROME, POT1-RELATED; Glioma susceptibility 9
Identifiers:: MONDO: MONDO:0014368; MedGen: C4014476; Orphanet: 618; OMIM: 615848

Recent activity

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iroquois-class homeodomain protein IRX-3 isoform 2 [Mus musculus]
iroquois-class homeodomain protein IRX-3 isoform 2 [Mus musculus]
gi|55741685|ref|NP_032419.2|

Protein
GLO1 glyoxalase I [Sus scrofa]
GLO1 glyoxalase I [Sus scrofa]
Gene ID:100156085

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002453727	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Sep 19, 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

SCV002453727

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Sep 19, 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, SCV002453727.3

#	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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