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NM_006329.4(FBLN5):c.992G>A (p.Arg331His) AND Charcot-Marie-Tooth disease, demyelinating, IIA 1H

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 2, 2022
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:
RCV001843340.1

Allele description [Variation Report for NM_006329.4(FBLN5):c.992G>A (p.Arg331His)]

NM_006329.4(FBLN5):c.992G>A (p.Arg331His)

Gene:
FBLN5:fibulin 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.12
Genomic location:
Preferred name:
NM_006329.4(FBLN5):c.992G>A (p.Arg331His)
HGVS:
  • NC_000014.9:g.91877680C>T
  • NG_008254.1:g.75023G>A
  • NM_001384158.1:c.1115G>A
  • NM_001384159.1:c.1043G>A
  • NM_001384160.1:c.992G>A
  • NM_001384161.1:c.824G>A
  • NM_001384162.1:c.824G>A
  • NM_006329.4:c.992G>AMANE SELECT
  • NP_001371087.1:p.Arg372His
  • NP_001371088.1:p.Arg348His
  • NP_001371089.1:p.Arg331His
  • NP_001371090.1:p.Arg275His
  • NP_001371091.1:p.Arg275His
  • NP_006320.2:p.Arg331His
  • LRG_364t1:c.992G>A
  • LRG_364:g.75023G>A
  • NC_000014.8:g.92344024C>T
  • NM_006329.3:c.992G>A
Protein change:
R275H; ARG331HIS
Links:
OMIM: 604580.0015; dbSNP: rs774735234
NCBI 1000 Genomes Browser:
rs774735234
Molecular consequence:
  • NM_001384158.1:c.1115G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384159.1:c.1043G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384160.1:c.992G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384161.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384162.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006329.4:c.992G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease, demyelinating, IIA 1H
Synonyms:
HEREDITARY MOTOR AND SENSORY NEUROPATHY, IH; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1H; NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0030689; MedGen: C5676926; OMIM: 619764

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002102479OMIM
no assertion criteria provided
Pathogenic
(Mar 2, 2022) 		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

Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.

Safka Brozkova D, Stojkovic T, Haberlová J, Mazanec R, Windhager R, Fernandes Rosenegger P, Hacker S, Züchner S, Kochański A, Leonard-Louis S, Francou B, Latour P, Senderek J, Seeman P, Auer-Grumbach M.

Eur J Neurol. 2020 Dec;27(12):2568-2574. doi: 10.1111/ene.14463. Epub 2020 Sep 5.

PubMed [citation]
PMID:
32757322

Details of each submission

From OMIM, SCV002102479.1

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

Description

In 4 patients from 3 unrelated families of Czech and German origin (CZ7, CZ8, and GE1) with demyelinating Charcot-Marie-Tooth disease, type 1H (CMT1H; 619764), Safka Brozkova et al. (2020) identified a heterozygous c.992G-A transition (c.992G-A, NM_006329.3) in the FBLN5 gene, resulting in an arg331-to-his (R331H) substitution at a highly conserved residue in the C-terminal domain. The mutation was present once in the gnomAD database. Segregation with the disorder was demonstrated in family CZ7. Functional studies of the variant and studies of patient cells were not performed.

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

Last Updated: Sep 29, 2024