NM_014389.3(PELP1):c.1664del (p.Leu555fs) AND Global developmental delay

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 1, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001527629.2

Allele description [Variation Report for NM_014389.3(PELP1):c.1664del (p.Leu555fs)]

NM_014389.3(PELP1):c.1664del (p.Leu555fs)

Gene:

PELP1:proline, glutamate and leucine rich protein 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.2

Genomic location:

Preferred name:

NM_014389.3(PELP1):c.1664del (p.Leu555fs)

HGVS:

NC_000017.11:g.4673431del
NM_001278241.2:c.1223del
NM_014389.3:c.1664delMANE SELECT
NP_001265170.1:p.Leu408fs
NP_055204.4:p.Leu555fs
NC_000017.10:g.4576726del

Protein change:

L408fs

Links:

dbSNP: rs1912321794

NCBI 1000 Genomes Browser:

rs1912321794

Molecular consequence:

NM_001278241.2:c.1223del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014389.3:c.1664del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Global developmental delay (DD)
Identifiers:: MedGen: C0557874; Human Phenotype Ontology: HP:0001263

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001738740	Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	no assertion criteria provided	Uncertain significance (Jan 1, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001738740

Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

no assertion criteria provided

Uncertain significance
(Jan 1, 2020)

germline

clinical testing

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 Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV001738740.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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