NM_021871.4(FGA):c.1417G>A (p.Asp473Asn) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 27, 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:: RCV002520212.2

Allele description [Variation Report for NM_021871.4(FGA):c.1417G>A (p.Asp473Asn)]

NM_021871.4(FGA):c.1417G>A (p.Asp473Asn)

Gene:

FGA:fibrinogen alpha chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q31.3

Genomic location:

Preferred name:

NM_021871.4(FGA):c.1417G>A (p.Asp473Asn)

HGVS:

NC_000004.12:g.154586012C>T
NG_008832.1:g.9734G>A
NM_000508.5:c.1417G>A
NM_021871.4:c.1417G>AMANE SELECT
NP_000499.1:p.Asp473Asn
NP_068657.1:p.Asp473Asn
LRG_557t2:c.1417G>A
LRG_557:g.9734G>A
NC_000004.11:g.155507164C>T
NM_021871.2:c.1417G>A

Protein change:

D473N

Links:

dbSNP: rs200378626

NCBI 1000 Genomes Browser:

rs200378626

Molecular consequence:

NM_000508.5:c.1417G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_021871.4:c.1417G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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neprilysin-1-like [Mya arenaria]
neprilysin-1-like [Mya arenaria]
gi|2427538102|ref|XP_052821503.1|

Protein
transposase [Parafrankia sp. Ea1.12]
transposase [Parafrankia sp. Ea1.12]
gi|2781513808|ref|WP_368672148.1|

Protein
Dipus sagitta sowerbyi isolate M17-204 perforin 1 (Prf1) gene, partial cds
Dipus sagitta sowerbyi isolate M17-204 perforin 1 (Prf1) gene, partial cds
gi|2512563335|gb|OP820042.1|

Nucleotide
Frankia sp. BMG5.23, whole genome shotgun sequencing project
Frankia sp. BMG5.23, whole genome shotgun sequencing project
gi|631850062|gb|JDWE00000000.1|JDWE 000

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003623211	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 27, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003623211

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 27, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003623211.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.1417G>A (p.D473N) alteration is located in exon 5 (coding exon 5) of the FGA gene. This alteration results from a G to A substitution at nucleotide position 1417, causing the aspartic acid (D) at amino acid position 473 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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		not provided	not provided	not provided	not provided

Last Updated: May 26, 2024

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