NM_001387850.1(FILIP1L):c.2693C>G (p.Pro898Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 31, 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:: RCV004254722.1

Allele description [Variation Report for NM_001387850.1(FILIP1L):c.2693C>G (p.Pro898Arg)]

NM_001387850.1(FILIP1L):c.2693C>G (p.Pro898Arg)

Genes:

CMSS1:cms1 ribosomal small subunit homolog [Gene - HGNC]
FILIP1L:filamin A interacting protein 1 like [Gene - OMIM - HGNC]
LOC105374010:uncharacterized LOC105374010 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

3q12.1

Genomic location:

Preferred name:

NM_001387850.1(FILIP1L):c.2693C>G (p.Pro898Arg)

HGVS:

NC_000003.12:g.99848983G>C
NM_001042459.3:c.2693C>G
NM_001282793.2:c.1421C>G
NM_001282794.2:c.1973C>G
NM_001370247.1:c.1973C>G
NM_001387850.1:c.2693C>GMANE SELECT
NM_001387851.1:c.1973C>G
NM_001387852.1:c.606-18378C>G
NM_014890.4:c.1973C>G
NM_032359.4:c.64+30940G>CMANE SELECT
NM_182909.4:c.2693C>G
NP_001035924.1:p.Pro898Arg
NP_001269722.1:p.Pro474Arg
NP_001269723.1:p.Pro658Arg
NP_001357176.1:p.Pro658Arg
NP_001374779.1:p.Pro898Arg
NP_001374780.1:p.Pro658Arg
NP_055705.2:p.Pro658Arg
NP_878913.2:p.Pro898Arg
NC_000003.11:g.99567827G>C
NM_182909.2:c.2693C>G

Protein change:

P474R

Molecular consequence:

NM_001387852.1:c.606-18378C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_032359.4:c.64+30940G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001042459.3:c.2693C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282793.2:c.1421C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282794.2:c.1973C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370247.1:c.1973C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387850.1:c.2693C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387851.1:c.1973C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014890.4:c.1973C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_182909.4:c.2693C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Nucleotide
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Nucleotide
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Protein
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Nucleotide
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Amanita ravenelii voucher NAMA 2015-200 Mushroom Observer # 247168 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1 and 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|1476486051|gb|MH910532.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003868002	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 31, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003868002

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 31, 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, SCV003868002.2

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

Description

The c.2693C>G (p.P898R) alteration is located in exon 5 (coding exon 4) of the FILIP1L gene. This alteration results from a C to G substitution at nucleotide position 2693, causing the proline (P) at amino acid position 898 to be replaced by an arginine (R). 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: Nov 10, 2024

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