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NM_198253.3(TERT):c.863C>T (p.Ala288Val) AND Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 1, 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:
RCV001293960.8

Allele description [Variation Report for NM_198253.3(TERT):c.863C>T (p.Ala288Val)]

NM_198253.3(TERT):c.863C>T (p.Ala288Val)

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.863C>T (p.Ala288Val)
Other names:
p.Ala288Val
HGVS:
  • NC_000005.10:g.1294023G>A
  • NG_009265.1:g.6025C>T
  • NM_001193376.3:c.863C>T
  • NM_198253.3:c.863C>TMANE SELECT
  • NP_001180305.1:p.Ala288Val
  • NP_937983.2:p.Ala288Val
  • NP_937983.2:p.Ala288Val
  • LRG_343t1:c.863C>T
  • LRG_343:g.6025C>T
  • LRG_343p1:p.Ala288Val
  • NC_000005.9:g.1294138G>A
  • NM_198253.2:c.863C>T
  • NR_149162.3:n.942C>T
  • NR_149163.3:n.942C>T
Protein change:
A288V
Links:
dbSNP: rs774657340
NCBI 1000 Genomes Browser:
rs774657340
Molecular consequence:
  • NM_001193376.3:c.863C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.3:c.863C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149162.3:n.942C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.3:n.942C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Synonyms:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1
Identifiers:
MONDO: MONDO:0013878; MedGen: C3553617; Orphanet: 88; OMIM: 614742

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001482672Baylor Genetics - CSER-TexasKidsCanSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 1, 2020) 		maternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics - CSER-TexasKidsCanSeq, SCV001482672.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Nov 3, 2024