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NM_000185.4(SERPIND1):c.161T>G (p.Leu54Arg) AND Heparin cofactor II deficiency

Germline classification:
Uncertain significance (1 submission)
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:
RCV002222137.2

Allele description [Variation Report for NM_000185.4(SERPIND1):c.161T>G (p.Leu54Arg)]

NM_000185.4(SERPIND1):c.161T>G (p.Leu54Arg)

Genes:
PI4KA:phosphatidylinositol 4-kinase alpha [Gene - OMIM - HGNC]
SERPIND1:serpin family D member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_000185.4(SERPIND1):c.161T>G (p.Leu54Arg)
HGVS:
  • NC_000022.11:g.20779473T>G
  • NG_012076.2:g.10379T>G
  • NG_033052.2:g.84340A>C
  • NM_000185.4:c.161T>GMANE SELECT
  • NM_001362862.2:c.2328+13720A>C
  • NM_001362863.2:c.2262+13720A>C
  • NM_058004.4:c.2328+13720A>CMANE SELECT
  • NP_000176.2:p.Leu54Arg
  • LRG_594t1:c.161T>G
  • LRG_594:g.10379T>G
  • LRG_594p1:p.Leu54Arg
  • NC_000022.10:g.21133761T>G
  • NM_000185.3:c.161T>G
Protein change:
L54R
Links:
dbSNP: rs563129167
NCBI 1000 Genomes Browser:
rs563129167
Molecular consequence:
  • NM_001362862.2:c.2328+13720A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362863.2:c.2262+13720A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_058004.4:c.2328+13720A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000185.4:c.161T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Heparin cofactor II deficiency
Synonyms:
HCF II DEFICIENCY; HCF2 DEFICIENCY; THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012876; MedGen: C0398626; OMIM: 612356

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002499608ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significanceunknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K, Downes K, Morel-Kopp MC, Bastida JM, Brooks S, Bury L, Leinoe E, Gomez K, Morgan NV, Othman M, Ouwehand WH, Perez Botero J, Rivera J, Schulze H, Trégouët DA, Freson K.

J Thromb Haemost. 2021 Oct;19(10):2612-2617. doi: 10.1111/jth.15459. Epub 2021 Aug 5. Erratum in: J Thromb Haemost. 2023 Apr;21(4):1067. doi: 10.1016/j.jtha.2023.01.021.

PubMed [citation]
PMID:
34355501
PMCID:
PMC9291976

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002499608.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024