NM_019616.4(F7):c.1025G>A (p.Arg342Gln) AND Congenital factor VII deficiency

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Oct 9, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV003147479.5

Allele description [Variation Report for NM_019616.4(F7):c.1025G>A (p.Arg342Gln)]

NM_019616.4(F7):c.1025G>A (p.Arg342Gln)

Gene:

F7:coagulation factor VII [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

Preferred name:

NM_019616.4(F7):c.1025G>A (p.Arg342Gln)

Other names:

F7, ARG304GLN; R304Q; p.Arg364Gln

HGVS:

NC_000013.11:g.113118698G>A
NG_009258.1:g.900G>A
NG_009262.1:g.17908G>A
NM_000131.4:c.1091G>A
NM_001267554.2:c.839G>A
NM_019616.4:c.1025G>AMANE SELECT
NP_000122.1:p.Arg364Gln
NP_001254483.1:p.Arg280Gln
NP_062562.1:p.Arg342Gln
LRG_554t1:c.1091G>A
LRG_548:g.900G>A
LRG_554:g.17908G>A
LRG_554p1:p.Arg364Gln
NC_000013.10:g.113773012G>A
NR_051961.2:n.1109G>A

Protein change:

R280Q; ARG304GLN

Links:

LOVD 3: F7_000101; OMIM: 613878.0001; dbSNP: rs121964926

NCBI 1000 Genomes Browser:

rs121964926

Molecular consequence:

NM_000131.4:c.1091G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001267554.2:c.839G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_019616.4:c.1025G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_051961.2:n.1109G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Congenital factor VII deficiency
Identifiers:: MONDO: MONDO:0009211; MedGen: C0272320; Orphanet: 327; OMIM: 227500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002024556	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 9, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004013121	ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	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

SCV002024556

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 9, 2020)

germline

clinical testing

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

SCV004013121

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

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

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	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	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 Revvity Omics, Revvity, SCV002024556.3

#	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

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV004013121.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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