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NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys) AND Progeroid and marfanoid aspect-lipodystrophy syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 11, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002463786.1

Allele description [Variation Report for NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys)]

NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys)
Other names:
p.Arg1388Cys
HGVS:
  • NC_000015.10:g.48474303G>A
  • NG_008805.2:g.176486C>T
  • NM_000138.5:c.4162C>TMANE SELECT
  • NP_000129.3:p.Arg1388Cys
  • LRG_778t1:c.4162C>T
  • LRG_778:g.176486C>T
  • NC_000015.9:g.48766500G>A
  • NC_000015.9:g.48766500G>A
  • NM_000138.4:c.4162C>T
Protein change:
R1388C
Links:
dbSNP: rs770860280
NCBI 1000 Genomes Browser:
rs770860280
Molecular consequence:
  • NM_000138.5:c.4162C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Progeroid and marfanoid aspect-lipodystrophy syndrome
Synonyms:
MARFANOID-PROGEROID SYNDROME; MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME; Marfan lipodystrophy syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0014831; MedGen: C4310796; Orphanet: 300382; OMIM: 616914

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002601577Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 11, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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 Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV002601577.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

A heterozygous variation in exon 34 of the FBN1 gene that results in the amino acid substitution of Cysteine for Arginine at codon 4162 was detected. The observed variant c.4162C>T (p.Arg1388Cys) has a minor allele frequency of 0.0007% in the 1000 genomes and gnomAD databases. The in silico prediction of the variant is damaging by SIFT, PROVEAN, MutationTaster2 and FATHMM. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024