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NM_198253.3(TERT):c.1009G>A (p.Asp337Asn) AND Dyskeratosis congenita, autosomal dominant 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 29, 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:
RCV002291772.8

Allele description [Variation Report for NM_198253.3(TERT):c.1009G>A (p.Asp337Asn)]

NM_198253.3(TERT):c.1009G>A (p.Asp337Asn)

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.1009G>A (p.Asp337Asn)
HGVS:
  • NC_000005.10:g.1293877C>T
  • NG_009265.1:g.6171G>A
  • NM_001193376.3:c.1009G>A
  • NM_198253.3:c.1009G>AMANE SELECT
  • NP_001180305.1:p.Asp337Asn
  • NP_937983.2:p.Asp337Asn
  • LRG_343t1:c.1009G>A
  • LRG_343:g.6171G>A
  • NC_000005.9:g.1293992C>T
  • NM_198253.2:c.1009G>A
  • NR_149162.3:n.1088G>A
  • NR_149163.3:n.1088G>A
Protein change:
D337N
Links:
dbSNP: rs2126686381
NCBI 1000 Genomes Browser:
rs2126686381
Molecular consequence:
  • NM_001193376.3:c.1009G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.3:c.1009G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149162.3:n.1088G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.3:n.1088G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Dyskeratosis congenita, autosomal dominant 2
Identifiers:
MONDO: MONDO:0013521; MedGen: C3151443; OMIM: 613989

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002584762St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(St. Jude Assertion Criteria 2020)		Uncertain significance
(Jun 29, 2022) 		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 St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV002584762.1

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

Description

The TERT c.1009G>A (p.Asp337Asn) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). To our knowledge, this variant has not been reported in individuals with clinical features of dyskeratosis congenita. The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. This variant occurs in a gene where missense variants are more likely to be damaging based on methods described by Lek et al. (PMID: 27535533). In summary, the evidence currently available is insufficient to determine the role of this variant in dyskeratosis congenita. It has therefore been classified as of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024