NM_000130.5(F5):c.1830_1831dup (p.His611fs) AND Thrombophilia due to activated protein C resistance

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 12, 2023
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:: RCV003333109.1

Allele description [Variation Report for NM_000130.5(F5):c.1830_1831dup (p.His611fs)]

NM_000130.5(F5):c.1830_1831dup (p.His611fs)

Gene:

F5:coagulation factor V [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q24.2

Genomic location:

Preferred name:

NM_000130.5(F5):c.1830_1831dup (p.His611fs)

HGVS:

NC_000001.11:g.169544440_169544441dup
NG_011806.1:g.47091_47092dup
NM_000130.5:c.1830_1831dupMANE SELECT
NP_000121.2:p.His611fs
LRG_553:g.47091_47092dup
NC_000001.10:g.169513678_169513679dup
NM_000130.4:c.1830_1831dupGC

Protein change:

H611fs

Links:

dbSNP: rs1571577365

NCBI 1000 Genomes Browser:

rs1571577365

Molecular consequence:

NM_000130.5:c.1830_1831dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Thrombophilia due to activated protein C resistance (THPH2)
Synonyms:: PCCF DEFICIENCY; PROC COFACTOR DEFICIENCY; THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008560; MedGen: C1861171; OMIM: 188055

Recent activity

Clear Turn Off Turn On

MULTISPECIES: alanine--tRNA ligase [Aminobacterium]
MULTISPECIES: alanine--tRNA ligase [Aminobacterium]
gi|502813440|ref|WP_013048416.1|

Protein
PREDICTED: Mus musculus nuclear receptor co-repressor 1 (Ncor1), transcript vari...
PREDICTED: Mus musculus nuclear receptor co-repressor 1 (Ncor1), transcript variant X9, mRNA
gi|1907080648|ref|XM_006532619.5|

Nucleotide
nuclear receptor corepressor 1 isoform X21 [Mus musculus]
nuclear receptor corepressor 1 isoform X21 [Mus musculus]
gi|1907080663|ref|XP_036012357.1|

Protein
PREDICTED: Mus musculus nuclear receptor co-repressor 1 (Ncor1), transcript vari...
PREDICTED: Mus musculus nuclear receptor co-repressor 1 (Ncor1), transcript variant X19, mRNA
gi|1907080660|ref|XM_017314373.3|

Nucleotide
PREDICTED: Mus musculus nuclear receptor co-repressor 1 (Ncor1), transcript vari...
PREDICTED: Mus musculus nuclear receptor co-repressor 1 (Ncor1), transcript variant X12, mRNA
gi|1907080652|ref|XM_017314368.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004041516	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 12, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004041516

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 12, 2023)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Baylor Genetics, SCV004041516.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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