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NM_198253.3(TERT):c.1180C>T (p.Leu394=) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 18, 2020
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:
RCV002335047.1

Allele description

NM_198253.3(TERT):c.1180C>T (p.Leu394=)

Gene:
TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
NM_198253.3(TERT):c.1180C>T (p.Leu394=)
HGVS:
  • NC_000005.10:g.1293706G>A
  • NG_009265.1:g.6342C>T
  • NM_001193376.3:c.1180C>T
  • NM_003219.1:c.1180C>T
  • NM_198253.3:c.1180C>TMANE SELECT
  • NP_001180305.1:p.Leu394=
  • NP_003210.1:p.Leu394=
  • NP_937983.2:p.Leu394=
  • NP_937983.2:p.Leu394=
  • LRG_343t1:c.1180C>T
  • LRG_343:g.6342C>T
  • LRG_343p1:p.Leu394=
  • NC_000005.9:g.1293821G>A
  • NM_198253.2:c.1180C>T
  • NR_149162.3:n.1259C>T
  • NR_149163.3:n.1259C>T
Molecular consequence:
  • NR_149162.3:n.1259C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.3:n.1259C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001193376.3:c.1180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003219.1:c.1180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198253.3:c.1180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Dyskeratosis congenita
Identifiers:
MONDO: MONDO:0015780; MedGen: C0265965; OMIM: PS127550
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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002640279Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Likely benign
(Aug 18, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002640279.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023