NM_198253.2(TERT):c.2706G>C (p.Lys902Asn)

Variation ID: Help
12735
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
May 10, 2012
Number of submission(s):
2
Condition(s):
  • Dyskeratosis congenita autosomal dominant [MedGen - OMIM]
  • Dyskeratosis congenita, autosomal dominant, 2 [MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_198253.2(TERT):c.2706G>C (p.Lys902Asn)

Allele ID:
27774
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.3
Genomic location:
  • Chr5: 1264541 (on Assembly GRCh38)
  • Chr5: 1264656 (on Assembly GRCh37)
Protein change:
K902N
HGVS:
  • NG_009265.1:g.35507G>C
  • NM_001193376.1:c.2654+1923G>C
  • NM_198253.2:c.2706G>C
  • NP_937983.2:p.Lys902Asn
  • NC_000005.10:g.1264541C>G (GRCh38)
  • LRG_343t1:c.2706G>C
  • NC_000005.9:g.1264656C>G (GRCh37)
  • O14746:p.Lys902Asn
  • LRG_343p1:p.Lys902Asn
  • LRG_343:g.35507G>C
Links:
NCBI 1000 Genomes Browser:
rs121918665
Molecular consequence:
  • NM_001193376.1:c.2654+1923G>C: intron variant SO:0001627
  • NM_198253.2:c.2706G>C: missense variant SO:0001583

Variant frequency in dbGaP Help

NM_198253.2(TERT):c.2706G>C (p.Lys902Asn)

GRCh37 Chr5:1264656
Called variantsPotential variants
Sample countno data0 of 40126

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Nov 1, 2005)
no assertion criteria providedliterature only
  • Dyskeratosis congenita, autosomal dominant, 2[MedGen | OMIM]
germlineOMIMSCV000033819.3
Pathogenic
(May 10, 2012)
no assertion criteria providedliterature only
  • Dyskeratosis congenita autosomal dominant[MedGen | OMIM]
not providedGeneReviewsSCV000056045.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
GeneReviewsnot providednot providednot providednot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jan 13, 2017