NM_032843.5(FIBCD1):c.869A>G (p.Asp290Gly) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 24, 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:: RCV004386497.1

Allele description [Variation Report for NM_032843.5(FIBCD1):c.869A>G (p.Asp290Gly)]

NM_032843.5(FIBCD1):c.869A>G (p.Asp290Gly)

Gene:

FIBCD1:fibrinogen C domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.12

Genomic location:

Preferred name:

NM_032843.5(FIBCD1):c.869A>G (p.Asp290Gly)

HGVS:

NC_000009.12:g.130911869T>C
NM_001145106.2:c.869A>G
NM_032843.5:c.869A>GMANE SELECT
NP_001138578.1:p.Asp290Gly
NP_116232.3:p.Asp290Gly
NC_000009.11:g.133787256T>C
NM_032843.4:c.869A>G

Protein change:

D290G

Molecular consequence:

NM_001145106.2:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_032843.5:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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indian hedgehog protein [Felis catus]
indian hedgehog protein [Felis catus]
gi|1304923916|ref|XP_019694701.2|

Protein
IQ domain-containing protein E isoform X5 [Rattus norvegicus]
IQ domain-containing protein E isoform X5 [Rattus norvegicus]
gi|1046855000|ref|XP_017453979.1|

Protein
SAMN13154697 (9)
SRA
Streptomyces althioticus strain E25 16S ribosomal RNA gene, partial sequence
Streptomyces althioticus strain E25 16S ribosomal RNA gene, partial sequence
gi|305861496|gb|HQ132792.1|

Nucleotide
MAG: DUF4295 domain-containing protein [Marinilabiliales bacterium]
MAG: DUF4295 domain-containing protein [Marinilabiliales bacterium]
gi|1321680152|gb|PLW95372.1||gnl|WG X|C0592_00395

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004871451	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 24, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004871451

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 24, 2024)

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, SCV004871451.1

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

Description

The c.869A>G (p.D290G) alteration is located in exon 5 (coding exon 5) of the FIBCD1 gene. This alteration results from a A to G substitution at nucleotide position 869, causing the aspartic acid (D) at amino acid position 290 to be replaced by a glycine (G). 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 7, 2024

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