NM_015450.3(POT1):c.233T>C (p.Ile78Thr) AND Long telomere syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003329305.1

Allele description [Variation Report for NM_015450.3(POT1):c.233T>C (p.Ile78Thr)]

NM_015450.3(POT1):c.233T>C (p.Ile78Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.33

Genomic location:

Preferred name:

NM_015450.3(POT1):c.233T>C (p.Ile78Thr)

HGVS:

NC_000007.14:g.124870933A>G
NG_029232.1:g.64051T>C
NM_001042594.2:c.-138-7293T>C
NM_015450.3:c.233T>CMANE SELECT
NP_056265.2:p.Ile78Thr
NC_000007.13:g.124510987A>G
NM_015450.2:c.233T>C
NR_003102.2:n.676T>C
NR_003103.2:n.676T>C
NR_003104.2:n.676T>C

Protein change:

I78T; ILE78THR

Links:

OMIM: 606478.0015; dbSNP: rs947005337

NCBI 1000 Genomes Browser:

rs947005337

Molecular consequence:

NM_001042594.2:c.-138-7293T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_015450.3:c.233T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_003102.2:n.676T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_003103.2:n.676T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_003104.2:n.676T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Long telomere syndrome
Identifiers:

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LOC105316734 [Amphimedon queenslandica]
LOC105316734 [Amphimedon queenslandica]
Gene ID:105316734

Gene
essv6357956 (1)
dbVar

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003853313	The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine	no assertion criteria provided	Pathogenic (Aug 1, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003853313

The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine

no assertion criteria provided

Pathogenic
(Aug 1, 2022)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine, SCV003853313.1

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

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

Last Updated: Sep 29, 2024

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