NM_001368397.1(FRMPD4):c.42-10del AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: May 28, 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:: RCV000081650.7

Allele description [Variation Report for NM_001368397.1(FRMPD4):c.42-10del]

NM_001368397.1(FRMPD4):c.42-10del

Gene:

FRMPD4:FERM and PDZ domain containing 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp22.2

Genomic location:

Preferred name:

NM_001368397.1(FRMPD4):c.42-10del

HGVS:

NC_000023.11:g.12498670del
NG_016419.3:g.681210del
NM_001368395.3:c.153-10del
NM_001368396.3:c.42-10del
NM_001368397.1:c.42-10delMANE SELECT
NM_001368398.3:c.153-10del
NM_001368399.3:c.33-10del
NM_001368400.3:c.-79-10del
NM_001368401.1:c.18-10del
NM_001368402.3:c.18-10del
NM_014728.3:c.42-10del
NC_000023.10:g.12516789del
NM_014728.3:c.42-10delT

Links:

dbSNP: rs111618469

NCBI 1000 Genomes Browser:

rs111618469

Molecular consequence:

NM_001368395.3:c.153-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368396.3:c.42-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368397.1:c.42-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368398.3:c.153-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368399.3:c.33-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368400.3:c.-79-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368401.1:c.18-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368402.3:c.18-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_014728.3:c.42-10del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000113581	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (May 28, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000113581

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(May 28, 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	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000113581.8

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

Last Updated: Apr 1, 2023

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