NM_021870.2(FGG):c.1001A>T (p.Asn334Ile) AND FIBRINOGEN BALTIMORE 3

Germline classification:: other (1 submission)
Last evaluated:: Sep 26, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000017785.2

Allele description [Variation Report for NM_021870.2(FGG):c.1001A>T (p.Asn334Ile)]

NM_021870.2(FGG):c.1001A>T (p.Asn334Ile)

Gene:

FGG:fibrinogen gamma chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q32.1

Genomic location:

Preferred name:

NM_021870.2(FGG):c.1001A>T (p.Asn334Ile)

Other names:

N308I

HGVS:

NC_000004.12:g.154606833T>A
NG_008834.1:g.10918A>T
NM_000509.6:c.1001A>T
NM_021870.3:c.1001A>TMANE SELECT
NP_000500.2:p.Asn334Ile
NP_068656.2:p.Asn334Ile
LRG_585t1:c.1001A>T
LRG_585t2:c.1001A>T
LRG_585:g.10918A>T
LRG_585p1:p.Asn334Ile
LRG_585p2:p.Asn334Ile
NC_000004.11:g.155527985T>A
P02679:p.Asn334Ile

Protein change:

N334I; ASN308ILE

Links:

UniProtKB: P02679#VAR_002413; OMIM: 134850.0005; dbSNP: rs121913090

NCBI 1000 Genomes Browser:

rs121913090

Molecular consequence:

NM_000509.6:c.1001A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_021870.3:c.1001A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: FIBRINOGEN BALTIMORE 3
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038064	OMIM	no assertion criteria provided	other (Sep 26, 2014)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 3175983, 2328317

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038064

OMIM

no assertion criteria provided

other
(Sep 26, 2014)

germline

literature only

PubMed (2)
[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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Fibrinogen Baltimore III: congenital dysfibrinogenemia with a shortened gamma-subunit.

Ebert RF, Bell WR.

Thromb Res. 1988 Aug 1;51(3):251-8.

PubMed [citation]

PMID:: 3175983

Polymerization defect of fibrinogen Baltimore III due to a gamma Asn308----Ile mutation.

Bantia S, Bell WR, Dang CV.

Blood. 1990 Apr 15;75(8):1659-63.

PubMed [citation]

PMID:: 2328317

Details of each submission

From OMIM, SCV000038064.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Ebert and Bell (1988) identified Baltimore-3 as a congenital abnormal fibrinogen with defective fibrin monomer polymerization. Bantia et al. (1990) demonstrated an asn308-to-ile mutation (N308I). Polymerization is also affected by N308K (134850.0004).

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

Last Updated: Feb 14, 2024

ClinVar

Relating variation to medicine