NM_139279.6(MCFD2):c.310-104_310-102del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Oct 5, 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:: RCV001671514.2

Allele description [Variation Report for NM_139279.6(MCFD2):c.310-104_310-102del]

NM_139279.6(MCFD2):c.310-104_310-102del

Gene:

MCFD2:multiple coagulation factor deficiency 2, ER cargo receptor complex subunit [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_139279.6(MCFD2):c.310-104_310-102del

HGVS:

NC_000002.12:g.46905713_46905715del
NG_016428.2:g.41158_41160del
NM_001171506.2:c.310-104_310-102del
NM_001171507.2:c.310-104_310-102del
NM_001171508.2:c.310-104_310-102del
NM_001171509.3:c.154-104_154-102del
NM_001171510.3:c.154-104_154-102del
NM_001171511.3:c.253-104_253-102del
NM_139279.6:c.310-104_310-102delMANE SELECT
LRG_566t1:c.310-104_310-102del
LRG_566t2:c.310-104_310-102del
LRG_566t3:c.310-104_310-102del
LRG_566:g.41158_41160del
NC_000002.11:g.47132852_47132854del

Links:

dbSNP: rs59068176

NCBI 1000 Genomes Browser:

rs59068176

Molecular consequence:

NM_001171506.2:c.310-104_310-102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001171507.2:c.310-104_310-102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001171508.2:c.310-104_310-102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001171509.3:c.154-104_154-102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001171510.3:c.154-104_154-102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001171511.3:c.253-104_253-102del - intron variant - [Sequence Ontology: SO:0001627]
NM_139279.6:c.310-104_310-102del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001888763	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Oct 5, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001888763

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Oct 5, 2019)

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, SCV001888763.1

#	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: Dec 24, 2023

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Relating variation to medicine