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NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Mar 15, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV002223293.2

Allele description [Variation Report for NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)]

NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)

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.3931T>A (p.Tyr1311Asn)
HGVS:
  • NC_000015.10:g.48481688A>T
  • NG_008805.2:g.169101T>A
  • NM_000138.5:c.3931T>AMANE SELECT
  • NP_000129.3:p.Tyr1311Asn
  • LRG_778t1:c.3931T>A
  • LRG_778:g.169101T>A
  • NC_000015.9:g.48773885A>T
  • NM_000138.4:c.3931T>A
Protein change:
Y1311N
Links:
dbSNP: rs1406315227
NCBI 1000 Genomes Browser:
rs1406315227
Molecular consequence:
  • NM_000138.5:c.3931T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002501289AiLife Diagnostics, AiLife Diagnostics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 2, 2022) 		germlineclinical testing

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

SCV005390692GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Mar 15, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Nothing to display

Details of each submission

From AiLife Diagnostics, AiLife Diagnostics, SCV002501289.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV005390692.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Has been reported in association with an FBN1-related phenotype (PMID: 25652356); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Although located in a calcium-binding EGF-like domain of the FBN1 gene, it does not affect a cysteine residue within this domain; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN1-related disorders (PMID: 12938084); This variant is associated with the following publications: (PMID: 12938084, 25652356)

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

Last Updated: Nov 10, 2024