NM_016938.5(EFEMP2):c.591C>T (p.Asn197=) AND Cutis laxa, autosomal recessive, type 1B

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 28, 2023
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:: RCV003643521.1

Allele description [Variation Report for NM_016938.5(EFEMP2):c.591C>T (p.Asn197=)]

NM_016938.5(EFEMP2):c.591C>T (p.Asn197=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

Preferred name:

NM_016938.5(EFEMP2):c.591C>T (p.Asn197=)

HGVS:

NC_000011.10:g.65870137G>A
NG_012304.2:g.7798C>T
NM_016938.5:c.591C>TMANE SELECT
NP_058634.4:p.Asn197=
NC_000011.9:g.65637608G>A
NR_037718.2:n.716C>T

Molecular consequence:

NR_037718.2:n.716C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_016938.5:c.591C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV004563754	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Likely benign (Aug 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004563754

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Likely benign
(Aug 28, 2023)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004563754.1

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

#	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: Feb 28, 2024

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