NM_000138.5(FBN1):c.4704A>T (p.Lys1568Asn) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 11, 2023
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:: RCV003314695.1

Allele description [Variation Report for NM_000138.5(FBN1):c.4704A>T (p.Lys1568Asn)]

NM_000138.5(FBN1):c.4704A>T (p.Lys1568Asn)

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.4704A>T (p.Lys1568Asn)

HGVS:

NC_000015.10:g.48467981T>A
NG_008805.2:g.182808A>T
NM_000138.5:c.4704A>TMANE SELECT
NP_000129.3:p.Lys1568Asn
LRG_778t1:c.4704A>T
LRG_778:g.182808A>T
NC_000015.9:g.48760178T>A
NM_000138.4:c.4704A>T

Protein change:

K1568N

Links:

dbSNP: rs193922208

NCBI 1000 Genomes Browser:

rs193922208

Molecular consequence:

NM_000138.5:c.4704A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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signal-induced proliferation-associated 1-like protein 1 isoform X5 [Homo sapien...
signal-induced proliferation-associated 1-like protein 1 isoform X5 [Homo sapiens]
gi|2462539739|ref|XP_054231790.1|

Protein
leafy, partial [Piliostigma thonningii]
leafy, partial [Piliostigma thonningii]
gi|1000354005|gb|AML27683.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004014591	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jul 11, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004014591

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jul 11, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV004014591.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Does not affect a cysteine residue within a calcium-binding EGF-like domain or a TGF-binding protein domain of the FBN1 gene; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN1-related disorders (Collod-Beroud et al., 2003); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 12938084)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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