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NM_001171506.2(MCFD2):c.-185_-183del AND Factor V and factor VIII, combined deficiency of, type 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000406848.14

Allele description [Variation Report for NM_001171506.2(MCFD2):c.-185_-183del]

NM_001171506.2(MCFD2):c.-185_-183del

Genes:
LOC129933675:ATAC-STARR-seq lymphoblastoid silent region 11457 [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_001171506.2(MCFD2):c.-185_-183del
HGVS:
  • NC_000002.12:g.46915806_46915808del
  • NG_016428.2:g.31049_31051del
  • NG_034143.2:g.4678_4680del
  • NG_095141.1:g.31_33del
  • NG_166701.1:g.114_116del
  • NM_001171506.2:c.-185_-183del
  • NM_001171507.2:c.-7+174_-7+176del
  • NM_001171508.2:c.-6-6630_-6-6628del
  • NM_001171510.3:c.-8+174_-8+176del
  • NM_001171511.3:c.93-7838_93-7836del
  • LRG_566t1:c.-185_-183del
  • LRG_566t2:c.-7+174_-7+176del
  • LRG_566t3:c.-6-6630_-6-6628del
  • LRG_1323:g.4678_4680del
  • LRG_566:g.31049_31051del
  • NC_000002.11:g.47142945_47142947del
  • NM_139279.5:c.-91_-89delGCG
Links:
dbSNP: rs886056121
NCBI 1000 Genomes Browser:
rs886056121
Molecular consequence:
  • NM_001171506.2:c.-185_-183del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001171507.2:c.-7+174_-7+176del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171508.2:c.-6-6630_-6-6628del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171510.3:c.-8+174_-8+176del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171511.3:c.93-7838_93-7836del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Factor V and factor VIII, combined deficiency of, type 1
Synonyms:
FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY I; MULTIPLE COAGULATION FACTOR DEFICIENCY I; FMFD I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009206; MedGen: C4551981; Orphanet: 35909; OMIM: 227300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000430854Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000430854.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024