NM_019616.4(F7):c.364+1G>A AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Dec 6, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001561212.2

Allele description [Variation Report for NM_019616.4(F7):c.364+1G>A]

NM_019616.4(F7):c.364+1G>A

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.364+1G>A
HGVS:
  • NC_000013.11:g.113113961G>A
  • NG_009262.1:g.13171G>A
  • NM_000131.4:c.430+1G>A
  • NM_001267554.2:c.178+1G>A
  • NM_019616.4:c.364+1G>AMANE SELECT
  • LRG_554t1:c.430+1G>A
  • LRG_554:g.13171G>A
  • NC_000013.10:g.113768275G>A
Links:
dbSNP: rs1056071555
NCBI 1000 Genomes Browser:
rs1056071555
Molecular consequence:
  • NM_000131.4:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001267554.2:c.178+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_019616.4:c.364+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001783767GeneDxcriteria provided, single submitter
Likely pathogenic
(Dec 6, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001783767.1

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

Description

Canonical splice site variant predicted to result in an in-frame deletion of a critical region; This variant is associated with the following publications: (PMID: 31273093, 29318701, 25952977, 25525159, 8652821, 9680360)

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

Last Updated: Oct 25, 2021

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