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NM_019616.4(F7):c.1025G>A (p.Arg342Gln) AND not provided

Germline classification:
Pathogenic; other (4 submissions)
Last evaluated:
Aug 15, 2024
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:
RCV000479479.20

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]
Observations:
11

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000568816GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Aug 15, 2024) 		germlineclinical testing

Citation Link,

SCV000857897Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		other
(Oct 30, 2017) 		germlineclinical testing

Citation Link,

SCV004135698CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Sep 1, 2022) 		germlineclinical testing

Citation Link,

SCV004224439Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 20, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown10not providednot providednot providednot providedclinical 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 GeneDx, SCV000568816.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Observed in apparent homozygous state in multiple unrelated patients in published literature and not observed in homozygous state in controls (PMID: 20958793, 25828579); Published studies demonstrate most individuals exhibit prolonged prothrombin times (PT) and F7 activity below 10% using rabbit brain thromboplastin, but normal PT and F7 activity using ox brain thromboplastin and intermediate values with human brain thromboplastin, while purified FVII protein from one individual homozygous for R364Q exhibited no detectable FVII clotting activity (PMID: 2070047, 20040857); In silico analysis indicates that this missense variant does not alter protein structure/function; Also known as R304Q and F7-Padua; This variant is associated with the following publications: (PMID: 31589614, 8242057, 8043443, 22995991, 18976247, 8883260, 15590402, 34598035, 32472540, 34342048, 21902896, 24711753, 12903033, 11313743, 1634227, 15970722, 10959697, 22873696, 20040857, 25828579, 26105150, 25863091, 35802509, 36760778, 36719811, 34426522, 2070047, 20958793, 38202056)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Eurofins Ntd Llc (ga), SCV000857897.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV004135698.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

F7: PS4, PM3, PM5, PM2:Supporting, PS3:Supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV004224439.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided9not providednot providedclinical testing PubMed (1)

Description

PM3_strong, PM5, PS3, PS4_moderate

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided9not providednot providednot provided

Last Updated: Oct 20, 2024