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NM_002024.6(FMR1):c.80C>A (p.Ser27Ter) AND Fragile X syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2011
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:
RCV000022880.6

Allele description [Variation Report for NM_002024.6(FMR1):c.80C>A (p.Ser27Ter)]

NM_002024.6(FMR1):c.80C>A (p.Ser27Ter)

Gene:
FMR1:fragile X messenger ribonucleoprotein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq27.3
Genomic location:
Preferred name:
NM_002024.6(FMR1):c.80C>A (p.Ser27Ter)
HGVS:
  • NC_000023.11:g.147921961C>A
  • NG_007529.2:g.14971C>A
  • NM_001185075.2:c.80C>A
  • NM_001185076.2:c.80C>A
  • NM_001185081.2:c.80C>A
  • NM_001185082.2:c.80C>A
  • NM_002024.6:c.80C>AMANE SELECT
  • NP_001172004.1:p.Ser27Ter
  • NP_001172005.1:p.Ser27Ter
  • NP_001172010.1:p.Ser27Ter
  • NP_001172011.1:p.Ser27Ter
  • NP_002015.1:p.Ser27Ter
  • LRG_762:g.14971C>A
  • NC_000023.10:g.147003479C>A
  • NR_033699.2:n.341C>A
  • NR_033700.2:n.341C>A
Protein change:
S27*; SER27TER
Links:
OMIM: 309550.0005; dbSNP: rs1569545382
NCBI 1000 Genomes Browser:
rs1569545382
Molecular consequence:
  • NR_033699.2:n.341C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_033700.2:n.341C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001185075.2:c.80C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001185076.2:c.80C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001185081.2:c.80C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001185082.2:c.80C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002024.6:c.80C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Fragile X syndrome
Synonyms:
MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28; Marker X syndrome; Martin-Bell syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010383; MedGen: C0016667; Orphanet: 449291; Orphanet: 908; OMIM: 300624

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044171OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 2011) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

A nonsense mutation in FMR1 causing fragile X syndrome.

Grønskov K, Brøndum-Nielsen K, Dedic A, Hjalgrim H.

Eur J Hum Genet. 2011 Apr;19(4):489-91. doi: 10.1038/ejhg.2010.223. Epub 2011 Jan 26.

PubMed [citation]
PMID:
21267007
PMCID:
PMC3060329

Details of each submission

From OMIM, SCV000044171.3

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

Description

In a man with classic features of fragile X syndrome (FXS; 300624), Gronskov et al. (2011) identified an 80C-A transversion in exon 2 of the FMR1 gene, resulting in a ser27-to-ter (S27X) substitution. The patient had mental retardation, early-onset seizures, poor language development, and autistic tendencies. Dysmorphic features included an elongated face, high and broad forehead, low-set large ears, prognathia, and enlarged testes. Neurologic examination showed hypotonia and hypermobility, with hyperextensible joints. Western blot analysis of patient lymphoblastoid cells showed no FMRP protein expression. His mother, who also carried the mutation, had mild to moderate intellectual disability, hypermotor behavior, and automatisms.

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

Last Updated: Aug 5, 2023