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NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 29, 2024
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:
RCV000029792.4

Allele description [Variation Report for NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile)]

NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile)

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.8311G>A (p.Val2771Ile)
HGVS:
  • NC_000015.10:g.48411295C>T
  • NG_008805.2:g.239494G>A
  • NM_000138.5:c.8311G>AMANE SELECT
  • NP_000129.3:p.Val2771Ile
  • NP_000129.3:p.Val2771Ile
  • LRG_778t1:c.8311G>A
  • LRG_778:g.239494G>A
  • LRG_778p1:p.Val2771Ile
  • NC_000015.9:g.48703492C>T
  • NM_000138.4:c.8311G>A
Protein change:
V2771I
Links:
dbSNP: rs193922244
NCBI 1000 Genomes Browser:
rs193922244
Molecular consequence:
  • NM_000138.5:c.8311G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000052446Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Jan 29, 2024) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.

Groth KA, Von Kodolitsch Y, Kutsche K, Gaustadnes M, Thorsen K, Andersen NH, Gravholt CH.

Genet Med. 2017 Jul;19(7):772-777. doi: 10.1038/gim.2016.181. Epub 2016 Dec 1.

PubMed [citation]
PMID:
27906200

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052446.4

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

Description

Variant summary: FBN1 c.8311G>A (p.Val2771Ile) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The observed variant frequency within South Asian control individuals in the gnomAD database is approximately 2.58 fold of the estimated maximal expected allele frequency for a pathogenic variant in FBN1 causing Marfan Syndrome phenotype (0.00011), strongly suggesting that the variant is a benign polymorphism found primarily in populations of South Asian origin. To our knowledge, no occurrence of c.8311G>A in individuals affected with Marfan Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 36129). Based on the evidence outlined above, the variant was classified as likely benign.

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

Last Updated: Oct 25, 2025