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NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Dec 11, 2020)
Last evaluated:
Mar 17, 2020
Accession:
VCV000914831.2
Variation ID:
914831
Description:
single nucleotide variant
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NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)

Allele ID
902917
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 154896202 (GRCh38) GRCh38 UCSC
X: 154124477 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.154124477C>T
NC_000023.11:g.154896202C>T
NM_000132.4:c.6304G>A MANE Select NP_000123.1:p.Gly2102Ser missense
... more HGVS
Protein change
G2102S
Other names
-
Canonical SPDI
NC_000023.11:154896201:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Mar 17, 2020 RCV001169186.2
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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
587 828

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary factor VIII deficiency disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001331854.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely pathogenic
(Mar 17, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary factor VIII deficiency disease
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001474163.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The F8 c.6304G>A; p.Gly2102Ser variant (rs200433372), also known as Gly2083Ser, is reported in the literature in individuals affected with reportedly mild hemophilia A (Debeljak 2012). … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated May 16, 2021