NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 1, 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:: RCV003430751.7

Allele description

NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala)

Gene:

FBN2:fibrillin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q23.3

Genomic location:

Preferred name:

NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala)

HGVS:

NC_000005.10:g.128330672T>C
NG_008750.1:g.212372A>G
NM_001999.4:c.4246A>GMANE SELECT
NP_001990.2:p.Thr1416Ala
NC_000005.9:g.127666364T>C
NM_001999.3:c.4246A>G
P35556:p.Thr1416Ala
p.T1416A

Protein change:

T1416A

Links:

UniProtKB: P35556#VAR_072655; dbSNP: rs200837433

NCBI 1000 Genomes Browser:

rs200837433

Molecular consequence:

NM_001999.4:c.4246A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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unknown (plasmid) [Lactococcus lactis subsp. lactis bv. diacetylactis]
unknown (plasmid) [Lactococcus lactis subsp. lactis bv. diacetylactis]
gi|8489200|gb|AAF75618.1|AF216814_9

Protein
di/tripeptide permease YjdL [Klebsiella pneumoniae]
di/tripeptide permease YjdL [Klebsiella pneumoniae]
gi|1429277795|emb|SSF05601.1||gnl|W BA|SSF05601

Protein
Xylose isomerase domain-containing protein TIM barrel [Mesorhizobium ciceri biov...
Xylose isomerase domain-containing protein TIM barrel [Mesorhizobium ciceri biovar biserrulae WSM1271]
gi|317170880|gnl|jgi|Mesci_5320|gb| 418.1|

Protein
Convolvulus erectus (0)
SRA
Rosa imperialis (13)
Protein Family Models

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004161336	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Oct 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004161336

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Oct 1, 2022)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004161336.7

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

Description

FBN2: BS1

#	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		1	not provided	not provided	not provided

Last Updated: Jul 29, 2024

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