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NM_000131.4(F7):c.-96C>A AND Hemophilia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 17, 2023
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:
RCV003582172.1

Allele description [Variation Report for NM_000131.4(F7):c.-96C>A]

NM_000131.4(F7):c.-96C>A

Gene:
F7:coagulation factor VII [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_000131.4(F7):c.-96C>A
HGVS:
  • NC_000013.11:g.113105746C>A
  • NG_009262.1:g.4956C>A
  • NM_000131.4:c.-96C>A
  • LRG_554t1:c.-96C>A
  • LRG_554:g.4956C>A
  • NC_000013.10:g.113760060C>A
Molecular consequence:
  • NM_000131.4:c.-96C>A - upstream transcript variant - [Sequence Ontology: SO:0001986]
Observations:
1

Condition(s)

Name:
Hemophilia (HEMA)
Identifiers:
MONDO: MONDO:0018660; MedGen: C0684275

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004363598MVZ Dr. Eberhard & Partner Dortmund
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 17, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not 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 MVZ Dr. Eberhard & Partner Dortmund, SCV004363598.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Additionaly polymorphpisms leading to moderatly reduced activity were found in heterozygosity: NC_000013.10:g.113759755G>T, NC_000013.10:g.113759831_113759832insCCTATATCCT and NM_000131.4:c.1238G>A

Description

This variant was absent from variant databases (HGMD, ClinVar, LOVD). It has not yet been described in the literature and is not found in control groups of different ethnic groups. At the same nucleotide position the substitution of C by T is already known to HGMD as disease causing mutation (PMID: 12472587). Substitutions at nucleotide position -94 (C>G and C>T) are also known and listed as disease causing. All those variants are part of the Sp1 binding site which is thought to be essential for the correct transcripton.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: May 12, 2024