NM_020066.5(FMN2):c.1472C>T (p.Ala491Val) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 20, 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:: RCV004625926.1

Allele description [Variation Report for NM_020066.5(FMN2):c.1472C>T (p.Ala491Val)]

NM_020066.5(FMN2):c.1472C>T (p.Ala491Val)

Gene:

FMN2:formin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

Preferred name:

NM_020066.5(FMN2):c.1472C>T (p.Ala491Val)

HGVS:

NC_000001.11:g.240093581C>T
NG_042054.1:g.6697C>T
NM_001305424.2:c.1472C>T
NM_001348094.2:c.1472C>T
NM_020066.5:c.1472C>TMANE SELECT
NP_001292353.1:p.Ala491Val
NP_001335023.1:p.Ala491Val
NP_064450.3:p.Ala491Val
NC_000001.10:g.240256881C>T
NM_020066.4:c.1472C>T

Protein change:

A491V

Molecular consequence:

NM_001305424.2:c.1472C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348094.2:c.1472C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_020066.5:c.1472C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Paranaitis wahlbergi voucher SMNH<SWE>:F. Pleijel P_w_spm_3 18S ribosomal RNA ge...
Paranaitis wahlbergi voucher SMNH<SWE>:F. Pleijel P_w_spm_3 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|184041471|gb|EU431129.1|

Nucleotide
Paranaitis wahlbergi voucher SMNH<SWE>:F. Pleijel P_w_spm_4 28S ribosomal RNA ge...
Paranaitis wahlbergi voucher SMNH<SWE>:F. Pleijel P_w_spm_4 28S ribosomal RNA gene, partial sequence
gi|184041511|gb|EU431155.1|

Nucleotide
Paranaitis wahlbergi voucher SMNH<SWE>:F. Pleijel P_w_spm_4 16S ribosomal RNA ge...
Paranaitis wahlbergi voucher SMNH<SWE>:F. Pleijel P_w_spm_4 16S ribosomal RNA gene, partial sequence; mitochondrial
gi|184041464|gb|EU431122.1|

Nucleotide

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
SCV005117458	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 20, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005117458

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 20, 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, SCV005117458.1

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

Description

The c.1472C>T (p.A491V) alteration is located in exon 1 (coding exon 1) of the FMN2 gene. This alteration results from a C to T substitution at nucleotide position 1472, causing the alanine (A) at amino acid position 491 to be replaced by a valine (V). 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: Aug 11, 2024

ClinVar

Relating variation to medicine