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NM_000132.4(F8):c.6299T>C (p.Ile2100Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 7, 2022
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:
RCV002511500.1

Allele description [Variation Report for NM_000132.4(F8):c.6299T>C (p.Ile2100Thr)]

NM_000132.4(F8):c.6299T>C (p.Ile2100Thr)

Gene:
F8:coagulation factor VIII [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000132.4(F8):c.6299T>C (p.Ile2100Thr)
HGVS:
  • NC_000023.11:g.154896207A>G
  • NG_011403.2:g.131517T>C
  • NM_000132.4:c.6299T>CMANE SELECT
  • NP_000123.1:p.Ile2100Thr
  • LRG_555t1:c.6299T>C
  • LRG_555:g.131517T>C
  • LRG_555p1:p.Ile2100Thr
  • NC_000023.10:g.154124482A>G
Protein change:
I2100T
Molecular consequence:
  • NM_000132.4:c.6299T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002820880GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jul 7, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV002820880.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Feb 7, 2023