NM_000130.5(F5):c.3438C>G (p.His1146Gln) AND Congenital factor V deficiency

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 31, 2024
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:: RCV003761900.2

Allele description [Variation Report for NM_000130.5(F5):c.3438C>G (p.His1146Gln)]

NM_000130.5(F5):c.3438C>G (p.His1146Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q24.2

Genomic location:

Preferred name:

NM_000130.5(F5):c.3438C>G (p.His1146Gln)

HGVS:

NC_000001.11:g.169541652G>C
NG_011806.1:g.49880C>G
NM_000130.5:c.3438C>GMANE SELECT
NP_000121.2:p.His1146Gln
NP_000121.2:p.His1146Gln
LRG_553t1:c.3438C>G
LRG_553:g.49880C>G
LRG_553p1:p.His1146Gln
NC_000001.10:g.169510890G>C
NM_000130.4:c.3438C>G
P12259:p.His1146Gln

Protein change:

H1146Q

Links:

UniProtKB: P12259#VAR_013891; dbSNP: rs6005

NCBI 1000 Genomes Browser:

rs6005

Molecular consequence:

NM_000130.5:c.3438C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital factor V deficiency
Synonyms:: LABILE FACTOR DEFICIENCY; OWREN PARAHEMOPHILIA; PARAHEMOPHILIA; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009210; MedGen: C0015499; OMIM: 227400

Recent activity

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PREDICTED: Mus musculus nuclear receptor co-repressor 1 (Ncor1), transcript vari...
PREDICTED: Mus musculus nuclear receptor co-repressor 1 (Ncor1), transcript variant X14, mRNA
gi|1907080654|ref|XM_017314370.3|

Nucleotide
nuclear receptor corepressor 1 isoform X47 [Mus musculus]
nuclear receptor corepressor 1 isoform X47 [Mus musculus]
gi|1907080700|ref|XP_036012368.1|

Protein
Leucine-rich repeat protein kinase family protein [Arabidopsis thaliana]
Leucine-rich repeat protein kinase family protein [Arabidopsis thaliana]
gi|15225780|ref|NP_180241.1|

Protein
nuclear receptor corepressor 1 isoform 3 [Mus musculus]
nuclear receptor corepressor 1 isoform 3 [Mus musculus]
gi|28893271|ref|NP_796203.1|

Protein
RecName: Full=Nuclear receptor corepressor 1; Short=N-CoR; Short=N-CoR1; AltName...
RecName: Full=Nuclear receptor corepressor 1; Short=N-CoR; Short=N-CoR1; AltName: Full=Retinoid X receptor-interacting protein 13; Short=RIP13
gi|12643781|sp|Q60974.1|NCOR1_MOUSE

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001102539	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 31, 2024)	germline	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

SCV001102539

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 31, 2024)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001102539.3

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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