NM_000501.4(ELN):c.1195del (p.Val399fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 24, 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:: RCV000200111.1

Allele description [Variation Report for NM_000501.4(ELN):c.1195del (p.Val399fs)]

NM_000501.4(ELN):c.1195del (p.Val399fs)

Gene:

ELN:elastin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q11.23

Genomic location:

Preferred name:

NM_000501.4(ELN):c.1195del (p.Val399fs)

HGVS:

NC_000007.14:g.74056315del
NG_009261.1:g.33219del
NM_000501.4:c.1195delMANE SELECT
NM_001081752.3:c.1165del
NM_001081753.3:c.1210del
NM_001081754.3:c.1210del
NM_001081755.3:c.1195del
NM_001278912.2:c.1195del
NM_001278913.2:c.1087del
NM_001278914.2:c.1180del
NM_001278915.2:c.1195del
NM_001278916.2:c.1153del
NM_001278917.2:c.1165del
NM_001278918.2:c.1063del
NM_001278939.2:c.1195del
NP_000492.2:p.Val399fs
NP_001075221.1:p.Val389fs
NP_001075222.1:p.Val404fs
NP_001075223.1:p.Val404fs
NP_001075224.1:p.Val399fs
NP_001265841.1:p.Val399fs
NP_001265842.1:p.Val363fs
NP_001265843.1:p.Val394fs
NP_001265844.1:p.Val399fs
NP_001265845.1:p.Val385fs
NP_001265846.1:p.Val389fs
NP_001265847.1:p.Val355fs
NP_001265868.1:p.Val399fs
NC_000007.13:g.73470645del
NM_000501.2:c.1195delG
p.V399LfsX75

Protein change:

V355fs

Links:

dbSNP: rs863223522

NCBI 1000 Genomes Browser:

rs863223522

Molecular consequence:

NM_000501.4:c.1195del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001081752.3:c.1165del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001081753.3:c.1210del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001081754.3:c.1210del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001081755.3:c.1195del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278912.2:c.1195del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278913.2:c.1087del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278914.2:c.1180del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278915.2:c.1195del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278916.2:c.1153del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278917.2:c.1165del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278918.2:c.1063del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278939.2:c.1195del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000250058	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Dec 24, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000250058

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Dec 24, 2013)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000250058.3

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

Description

The c.1195delG mutation in the ELN gene causes a frameshift starting with codon Valine 399, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 75 of the new reading frame, denoted p.Val399LeufsX75. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This mutation has not been previously reported to our knowledge. This variant was found in ELN

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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine