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NM_130468.4(CHST14):c.205A>T (p.Lys69Ter) AND Ehlers-Danlos syndrome, musculocontractural type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000002431.6

Allele description [Variation Report for NM_130468.4(CHST14):c.205A>T (p.Lys69Ter)]

NM_130468.4(CHST14):c.205A>T (p.Lys69Ter)

Gene:
CHST14:carbohydrate sulfotransferase 14 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q15.1
Genomic location:
Preferred name:
NM_130468.4(CHST14):c.205A>T (p.Lys69Ter)
HGVS:
  • NC_000015.10:g.40471418A>T
  • NG_017074.1:g.5458A>T
  • NM_130468.4:c.205A>TMANE SELECT
  • NP_569735.1:p.Lys69Ter
  • LRG_600:g.5458A>T
  • NC_000015.9:g.40763617A>T
Protein change:
K69*; LYS69TER
Links:
OMIM: 608429.0006; dbSNP: rs267606730
NCBI 1000 Genomes Browser:
rs267606730
Molecular consequence:
  • NM_130468.4:c.205A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Ehlers-Danlos syndrome, musculocontractural type 1
Identifiers:
MONDO: MONDO:0020681; MedGen: CN295219; OMIM: 601776

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022589OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2010) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Combination therapy of DDAVP and conjugated estrogens for a recurrent large subcutaneous hematoma in Ehlers-Danlos syndrome.

Yasui H, Adachi Y, Minami T, Ishida T, Kato Y, Imai K.

Am J Hematol. 2003 Jan;72(1):71-2. No abstract available.

PubMed [citation]
PMID:
12508273

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, et al.

Hum Mutat. 2010 Aug;31(8):966-74. doi: 10.1002/humu.21300.

PubMed [citation]
PMID:
20533528

Details of each submission

From OMIM, SCV000022589.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a 32-year-old Japanese man with bilateral thumb adduction, clubfeet, and progressive joint and skin laxity (EDSMC1; 601776), previously studied by Yasui et al. (2003), Miyake et al. (2010) identified compound heterozygosity for the P281L mutation (608429.0005) and a 205A-T transversion in the CHST14 gene, resulting in a lys69-to-ter (K69X) substitution. The K69X mutation was not detected in 376 Japanese control individuals.

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

Last Updated: Apr 23, 2022