NM_019616.4(F7):c.142C>T (p.Pro48Ser) AND Congenital factor VII deficiency

Germline classification:: Uncertain significance (2 submissions)
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:: RCV002281003.3

Allele description [Variation Report for NM_019616.4(F7):c.142C>T (p.Pro48Ser)]

NM_019616.4(F7):c.142C>T (p.Pro48Ser)

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.142C>T (p.Pro48Ser)

HGVS:

NC_000013.11:g.113110767C>T
NG_009262.1:g.9977C>T
NM_000131.4:c.208C>T
NM_001267554.2:c.65-3080C>T
NM_019616.4:c.142C>TMANE SELECT
NP_000122.1:p.Pro70Ser
NP_062562.1:p.Pro48Ser
LRG_554t1:c.208C>T
LRG_554:g.9977C>T
LRG_554p1:p.Pro70Ser
NC_000013.10:g.113765081C>T
NM_000131.3:c.208C>T
NR_051961.2:n.179C>T

Protein change:

P48S

Links:

dbSNP: rs373376565

NCBI 1000 Genomes Browser:

rs373376565

Molecular consequence:

NM_001267554.2:c.65-3080C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000131.4:c.208C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_019616.4:c.142C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_051961.2:n.179C>T - 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

Recent activity

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sal-like protein 4 isoform 2 [Homo sapiens]
sal-like protein 4 isoform 2 [Homo sapiens]
gi|972775858|ref|NP_001304960.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002569308	ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004804602	GenomeConnect - Brain Gene Registry	no classification provided	not provided	paternal	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002569308

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

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

clinical testing

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

SCV004804602

GenomeConnect - Brain Gene Registry

no classification provided

not provided

paternal

phenotyping only

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	paternal	unknown	1	not provided	not provided	1	not provided	phenotyping only

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 ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002569308.1

#	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

From GenomeConnect - Brain Gene Registry, SCV004804602.1

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

Description

Variant classified as Uncertain significance and reported on 01-07-2019 by Baylor Genetics. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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

Last Updated: May 7, 2024

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