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NM_000132.4(F8):c.5822A>G (p.Asn1941Ser) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 23, 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:
RCV004791214.1

Allele description [Variation Report for NM_000132.4(F8):c.5822A>G (p.Asn1941Ser)]

NM_000132.4(F8):c.5822A>G (p.Asn1941Ser)

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.5822A>G (p.Asn1941Ser)
Other names:
F8, ASN1922SER; N1922S; NM_000132.3(F8):c.5822A>G
HGVS:
  • NC_000023.11:g.154904082T>C
  • NG_011403.2:g.123642A>G
  • NM_000132.4:c.5822A>GMANE SELECT
  • NP_000123.1:p.Asn1941Ser
  • NP_000123.1:p.Asn1941Ser
  • LRG_555t1:c.5822A>G
  • LRG_555:g.123642A>G
  • LRG_555p1:p.Asn1941Ser
  • NC_000023.10:g.154132357T>C
  • NG_011403.1:g.123642A>G
  • NM_000132.3:c.5822A>G
  • P00451:p.Asn1941Ser
Protein change:
N1941S; ASN1922SER
Links:
UniProtKB: P00451#VAR_001169; OMIM: 300841.0211; dbSNP: rs28933682
NCBI 1000 Genomes Browser:
rs28933682
Molecular consequence:
  • NM_000132.4:c.5822A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005413470Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 23, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown4not providednot providednot providednot providedclinical testing

Citations

PubMed

Factor VIII A3 domain substitution N1922S results in hemophilia A due to domain-specific misfolding and hyposecretion of functional protein.

Summers RJ, Meeks SL, Healey JF, Brown HC, Parker ET, Kempton CL, Doering CB, Lollar P.

Blood. 2011 Mar 17;117(11):3190-8. doi: 10.1182/blood-2010-09-307074. Epub 2011 Jan 7.

PubMed [citation]
PMID:
21217077
PMCID:
PMC3062317

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 Mayo Clinic Laboratories, Mayo Clinic, SCV005413470.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (2)

Description

PP3, PM1, PM2_moderate, PS3, PS4_moderate

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

Last Updated: Nov 30, 2024