U.S. flag

An official website of the United States government

NM_001999.4(FBN2):c.3958A>G (p.Met1320Val) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 31, 2013
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:
RCV000244735.1

Allele description [Variation Report for NM_001999.4(FBN2):c.3958A>G (p.Met1320Val)]

NM_001999.4(FBN2):c.3958A>G (p.Met1320Val)

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.3958A>G (p.Met1320Val)
HGVS:
  • NC_000005.10:g.128335185T>C
  • NG_008750.1:g.207859A>G
  • NM_001999.4:c.3958A>GMANE SELECT
  • NP_001990.2:p.Met1320Val
  • NC_000005.9:g.127670877T>C
  • NM_001999.3:c.3958A>G
Protein change:
M1320V
Links:
dbSNP: rs759481427
NCBI 1000 Genomes Browser:
rs759481427
Molecular consequence:
  • NM_001999.4:c.3958A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000318706Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(May 31, 2013) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000318706.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

There is insufficient or conflicting evidence for classification of this alteration.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022