NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000765798.1

Allele description [Variation Report for NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe)]

NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe)

Gene:
FBN2:fibrillin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q23.3
Genomic location:
Preferred name:
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe)
HGVS:
  • NC_000005.10:g.128300906G>A
  • NG_008750.1:g.242138C>T
  • NM_001999.4:c.6077C>TMANE SELECT
  • NP_001990.2:p.Ser2026Phe
  • NC_000005.9:g.127636598G>A
  • NM_001999.3:c.6077C>T
Protein change:
S2026F
Links:
dbSNP: rs139668142
NCBI 1000 Genomes Browser:
rs139668142
Molecular consequence:
  • NM_001999.4:c.6077C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital contractural arachnodactyly (CCA)
Synonyms:
Beals syndrome; Arachnodactyly, contractural Beals type; Contractures, multiple with arachnodactyly; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007363; MedGen: C0220668; Orphanet: 115; OMIM: 121050
Name:
Macular degeneration, early-onset (EOMD)
Identifiers:
MONDO: MONDO:0014501; MedGen: C4015286; OMIM: 616118

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000897188Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics,Fulgent Genetics, SCV000897188.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

Support Center