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NM_000132.4(F8):c.1808G>A (p.Ser603Asn) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 5, 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:
RCV003120215.4

Allele description [Variation Report for NM_000132.4(F8):c.1808G>A (p.Ser603Asn)]

NM_000132.4(F8):c.1808G>A (p.Ser603Asn)

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.1808G>A (p.Ser603Asn)
HGVS:
  • NC_000023.11:g.154953987C>T
  • NG_011403.2:g.73737G>A
  • NM_000132.4:c.1808G>AMANE SELECT
  • NP_000123.1:p.Ser603Asn
  • LRG_555t1:c.1808G>A
  • LRG_555:g.73737G>A
  • LRG_555p1:p.Ser603Asn
  • NC_000023.10:g.154182262C>T
Protein change:
S603N
Molecular consequence:
  • NM_000132.4:c.1808G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003800089ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)		Likely pathogenic
(Jul 5, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV003800089.2

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

Description

The F8 c.1808G>A; p.Ser603Asn variant is reported in the literature in multiple individuals affected with mild to moderate hemophilia A (Atik 2020, Villarreal-Martinez 2020). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. Additionally, other amino acid substitutions at this codon (Cys, Gly, Ile, Thr, Arg) have been reported in individuals with hemophilia A (F8 database, Ahmed, 2005, Green 2008). Based on available information, this variant is considered to be likely pathogenic. References: Link to F8 database: https://f8-db.eahad.org/index.php Ahmed RP et al. Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A. Haematologica. 2005 Feb;90(2):283-4. PMID: 15710596. Atik T et al. Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations. Turk J Haematol. 2020 Aug 28;37(3):145-153. PMID: 32026663. Green PM et al. Haemophilia A mutations in the UK: results of screening one-third of the population. Br J Haematol. 2008 Oct;143(1):115-28. PMID: 18691168. Villarreal-Martínez L et al. Molecular genetic diagnosis by next-generation sequencing in a cohort of Mexican patients with haemophilia and report of novel variants. Blood Cells Mol Dis. 2020 Jul;83:102423. PMID: 32224444.

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

Last Updated: Jun 23, 2024