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NM_000138.5(FBN1):c.4095C>T (p.Asp1365=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 31, 2020
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:
RCV001192950.8

Allele description [Variation Report for NM_000138.5(FBN1):c.4095C>T (p.Asp1365=)]

NM_000138.5(FBN1):c.4095C>T (p.Asp1365=)

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.4095C>T (p.Asp1365=)
HGVS:
  • NC_000015.10:g.48474370G>A
  • NG_008805.2:g.176419C>T
  • NM_000138.5:c.4095C>TMANE SELECT
  • NP_000129.3:p.Asp1365=
  • NP_000129.3:p.Asp1365=
  • LRG_778t1:c.4095C>T
  • LRG_778:g.176419C>T
  • LRG_778p1:p.Asp1365=
  • NC_000015.9:g.48766567G>A
  • NM_000138.4:c.4095C>T
Links:
dbSNP: rs375402043
NCBI 1000 Genomes Browser:
rs375402043
Molecular consequence:
  • NM_000138.5:c.4095C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001361429Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Jan 31, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001361429.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 22, 2024