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NM_198253.3(TERT):c.2988G>T (p.Thr996=) AND Dyskeratosis congenita

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 25, 2023
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:
RCV004561464.1

Allele description [Variation Report for NM_198253.3(TERT):c.2988G>T (p.Thr996=)]

NM_198253.3(TERT):c.2988G>T (p.Thr996=)

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.2988G>T (p.Thr996=)
HGVS:
  • NC_000005.10:g.1258642C>A
  • NG_009265.1:g.41406G>T
  • NM_001193376.3:c.2799G>T
  • NM_003219.1:c.2988G>T
  • NM_198253.3:c.2988G>TMANE SELECT
  • NP_001180305.1:p.Thr933=
  • NP_003210.1:p.Thr996=
  • NP_937983.2:p.Thr996=
  • NP_937983.2:p.Thr996=
  • LRG_343t1:c.2988G>T
  • LRG_343:g.41406G>T
  • LRG_343p1:p.Thr996=
  • NC_000005.9:g.1258757C>A
  • NM_198253.2:c.2988G>T
  • NR_149162.3:n.2696G>T
  • NR_149163.3:n.2660G>T
Molecular consequence:
  • NR_149162.3:n.2696G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.3:n.2660G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001193376.3:c.2799G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003219.1:c.2988G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198253.3:c.2988G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Dyskeratosis congenita
Identifiers:
MONDO: MONDO:0015780; MedGen: C0265965; OMIM: PS127550

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005049197Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 25, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV005049197.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024