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NM_198253.3(TERT):c.1181T>A (p.Leu394Gln) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 11, 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:
RCV002334987.8

Allele description

NM_198253.3(TERT):c.1181T>A (p.Leu394Gln)

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.1181T>A (p.Leu394Gln)
HGVS:
  • NC_000005.10:g.1293705A>T
  • NG_009265.1:g.6343T>A
  • NM_001193376.3:c.1181T>A
  • NM_198253.3:c.1181T>AMANE SELECT
  • NP_001180305.1:p.Leu394Gln
  • NP_937983.2:p.Leu394Gln
  • LRG_343t1:c.1181T>A
  • LRG_343:g.6343T>A
  • NC_000005.9:g.1293820A>T
  • NM_198253.2:c.1181T>A
  • NR_149162.3:n.1260T>A
  • NR_149163.3:n.1260T>A
Protein change:
L394Q
Links:
dbSNP: rs1357160289
NCBI 1000 Genomes Browser:
rs1357160289
Molecular consequence:
  • NM_001193376.3:c.1181T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.3:c.1181T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149162.3:n.1260T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.3:n.1260T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
SCV002638160Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Likely benign
(Jan 11, 2022) 		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, SCV002638160.1

#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: Jun 2, 2024