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NM_000132.4(F8):c.102C>T (p.Asp34=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 4, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000618109.12
Variation ID:
618109
Description:
single nucleotide variant
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NM_000132.4(F8):c.102C>T (p.Asp34=)

Allele ID
610234
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 155022451 (GRCh38) GRCh38 UCSC
X: 154250726 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_555:g.5273C>T
LRG_555t1:c.102C>T LRG_555p1:p.Asp34=
NM_000132.3:c.102C>T NP_000123.1:p.Asp34= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:155022450:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00069
The Genome Aggregation Database (gnomAD) 0.00070
The Genome Aggregation Database (gnomAD), exomes 0.00090
Exome Aggregation Consortium (ExAC) 0.00093
Trans-Omics for Precision Medicine (TOPMed) 0.00074
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00038
Trans-Omics for Precision Medicine (TOPMed) 0.00072
Links
dbSNP: rs1800283
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Dec 31, 2019 RCV000756120.7
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV001169247.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F8 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
602 844

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 13, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000883839.1
Submitted: (Oct 10, 2018)
Evidence details
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001001948.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Dec 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001150552.7
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary factor VIII deficiency disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001331929.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (3)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations. Riccardi F Haemophilia : the official journal of the World Federation of Hemophilia 2010 PMID: 20331761
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Tarpey PS Nature genetics 2009 PMID: 19377476
Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA. Higuchi M Genomics 1990 PMID: 2105906

Text-mined citations for rs1800283...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021