NM_000132.4(F8):c.580G>A (p.Ala194Thr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 28, 2024
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:: RCV004790935.1

Allele description [Variation Report for NM_000132.4(F8):c.580G>A (p.Ala194Thr)]

NM_000132.4(F8):c.580G>A (p.Ala194Thr)

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.580G>A (p.Ala194Thr)

Other names:

p.Ala194Thr

HGVS:

NC_000023.11:g.154992957C>T
NG_011403.2:g.34767G>A
NM_000132.4:c.580G>AMANE SELECT
NP_000123.1:p.Ala194Thr
LRG_555t1:c.580G>A
LRG_555:g.34767G>A
LRG_555p1:p.Ala194Thr
NC_000023.10:g.154221232C>T
NM_000132.3:c.580G>A

Protein change:

A194T

Molecular consequence:

NM_000132.4:c.580G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005411535	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 28, 2024)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16786531, 32166871, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005411535

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 28, 2024)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution.

Guillet B, Lambert T, d'Oiron R, Proulle V, Plantier JL, Rafowicz A, Peynet J, Costa JM, Bendelac L, Laurian Y, Lavergne JM.

Hum Mutat. 2006 Jul;27(7):676-85.

PubMed [citation]

PMID:: 16786531

The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers.

McVey JH, Rallapalli PM, Kemball-Cook G, Hampshire DJ, Giansily-Blaizot M, Gomez K, Perkins SJ, Ludlam CA.

Haemophilia. 2020 Mar;26(2):306-313. doi: 10.1111/hae.13947. Epub 2020 Mar 13.

PubMed [citation]

PMID:: 32166871

See all PubMed Citations (3)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV005411535.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

Description

PM1_supporting, PM2, PS4_moderate

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 30, 2024

ClinVar

Relating variation to medicine