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NM_000138.5(FBN1):c.8163_8202dup (p.Glu2735fs) AND Acromicric dysplasia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 4, 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:
RCV002249983.1

Allele description [Variation Report for NM_000138.5(FBN1):c.8163_8202dup (p.Glu2735fs)]

NM_000138.5(FBN1):c.8163_8202dup (p.Glu2735fs)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.8163_8202dup (p.Glu2735fs)
HGVS:
  • NC_000015.10:g.48412593_48412632dup
  • NG_008805.2:g.238157_238196dup
  • NM_000138.5:c.8163_8202dupMANE SELECT
  • NP_000129.3:p.Glu2735fs
  • LRG_778:g.238157_238196dup
  • NC_000015.10:g.48412592_48412593insGTTTGTGCTTCTCCGTTTCCTGCCCCGTTTGGGGTAGCCA
  • NC_000015.9:g.48704790_48704829dup
Protein change:
E2735fs
Links:
dbSNP: rs2141211556
NCBI 1000 Genomes Browser:
rs2141211556
Molecular consequence:
  • NM_000138.5:c.8163_8202dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Acromicric dysplasia (ACMICD)
Synonyms:
Acromicric skeletal dysplasia
Identifiers:
MONDO: MONDO:0007055; MedGen: C0265287; Orphanet: 969; OMIM: 102370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002516355Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV002516355.1

#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 24, 2023