NM_001001343.4(FNDC9):c.629G>A (p.Arg210Lys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 7, 2022
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:: RCV004161117.1

Allele description [Variation Report for NM_001001343.4(FNDC9):c.629G>A (p.Arg210Lys)]

NM_001001343.4(FNDC9):c.629G>A (p.Arg210Lys)

Genes:

CYFIP2:cytoplasmic FMR1 interacting protein 2 [Gene - OMIM - HGNC]
FNDC9:fibronectin type III domain containing 9 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q33.3

Genomic location:

Preferred name:

NM_001001343.4(FNDC9):c.629G>A (p.Arg210Lys)

HGVS:

NC_000005.10:g.157342908C>T
NM_001001343.4:c.629G>AMANE SELECT
NM_001037333.3:c.2673+1751C>TMANE SELECT
NM_001291721.2:c.2595+1751C>T
NM_001291722.2:c.2748+1751C>T
NM_014376.4:c.2673+1751C>T
NP_001001343.2:p.Arg210Lys
NC_000005.9:g.156769916C>T
NM_001001343.3:c.629G>A

Protein change:

R210K

Molecular consequence:

NM_001037333.3:c.2673+1751C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001291721.2:c.2595+1751C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001291722.2:c.2748+1751C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_014376.4:c.2673+1751C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001001343.4:c.629G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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cytochrome oxidase subunit I, partial (mitochondrion) [Milnesium cf. eurystomum ...
cytochrome oxidase subunit I, partial (mitochondrion) [Milnesium cf. eurystomum GB.005]
gi|1822143220|gb|QIN55190.1|

Protein
Maternal-Fetal Relations
Maternal-Fetal Relations
The bond or lack thereof between a pregnant woman and her FETUS.<br/>Year introduced: 2003

MeSH
Methanobacteriales
Methanobacteriales
An order of anaerobic, coccoid to rod-shaped methanogens, in the kingdom EURYARCHAEOTA. They are nonmotile, do not catabolize carbohydrates, proteinaceous material, or organic...<br/>Year introduced: 1992

MeSH
Methanobacteriaceae
Methanobacteriaceae
A family of anaerobic, coccoid to rod-shaped METHANOBACTERIALES. Cell membranes are composed mainly of polyisoprenoid hydrocarbons ether-linked to glycerol. Its organisms are ...<br/>Year introduced: 1992

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003651359	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 7, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003651359

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 7, 2022)

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, SCV003651359.2

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

Description

The c.629G>A (p.R210K) alteration is located in exon 2 (coding exon 1) of the FNDC9 gene. This alteration results from a G to A substitution at nucleotide position 629, causing the arginine (R) at amino acid position 210 to be replaced by a lysine (K). 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: Oct 26, 2024

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