NM_016938.5(EFEMP2):c.774_775inv (p.Ile259Val) AND Cutis laxa, autosomal recessive, type 1B

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 2, 2019
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:: RCV001409631.7

Allele description [Variation Report for NM_016938.5(EFEMP2):c.774_775inv (p.Ile259Val)]

NM_016938.5(EFEMP2):c.774_775inv (p.Ile259Val)

Gene:

EFEMP2:EGF containing fibulin extracellular matrix protein 2 [Gene - OMIM - HGNC]

Variant type:

Inversion

Cytogenetic location:

11q13.1

Genomic location:

Preferred name:

NM_016938.5(EFEMP2):c.774_775inv (p.Ile259Val)

HGVS:

NC_000011.10:g.65868582_65868583inv
NG_012304.2:g.9352_9353inv
NG_053116.1:g.13521_13522inv
NM_016938.5:c.774_775invMANE SELECT
NP_058634.4:p.Ile259Val
NC_000011.9:g.65636053_65636054delinsCA
NC_000011.9:g.65636053_65636054inv
NR_037718.2:n.899_900inv

Protein change:

I259V

Links:

Molecular consequence:

NM_016938.5:c.774_775inv - missense variant - [Sequence Ontology: SO:0001583]
NR_037718.2:n.899_900inv - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Cutis laxa, autosomal recessive, type 1B (ARCL1B)
Synonyms:: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
Identifiers:: MONDO: MONDO:0013754; MedGen: C3280798; Orphanet: 90349; OMIM: 614437

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001611663	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Apr 2, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001611663

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Apr 2, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001611663.4

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

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

Last Updated: Sep 29, 2024

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