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NM_000138.5(FBN1):c.3981A>C (p.Glu1327Asp) AND Progeroid and marfanoid aspect-lipodystrophy syndrome

Germline classification:
Uncertain significance (1 submission)
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:
RCV003314480.1

Allele description [Variation Report for NM_000138.5(FBN1):c.3981A>C (p.Glu1327Asp)]

NM_000138.5(FBN1):c.3981A>C (p.Glu1327Asp)

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.3981A>C (p.Glu1327Asp)
HGVS:
  • NC_000015.10:g.48474634T>G
  • NG_008805.2:g.176155A>C
  • NM_000138.5:c.3981A>CMANE SELECT
  • NM_001406716.1:c.3981A>C
  • NP_000129.3:p.Glu1327Asp
  • NP_000129.3:p.Glu1327Asp
  • NP_001393645.1:p.Glu1327Asp
  • LRG_778t1:c.3981A>C
  • LRG_778:g.176155A>C
  • LRG_778p1:p.Glu1327Asp
  • NC_000015.9:g.48766831T>G
  • NM_000138.4:c.3981A>C
Protein change:
E1327D
Molecular consequence:
  • NM_000138.5:c.3981A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406716.1:c.3981A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV0040138683billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significanceunknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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 3billion, SCV004013868.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The variant is not observed in the gnomAD v2.1.1 dataset. The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.60; 3Cnet: 0.99). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Aug 5, 2023