NM_001159699.2(FHL1):c.836G>A (p.Arg279His) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 21, 2019
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:: RCV002420838.2

Allele description [Variation Report for NM_001159699.2(FHL1):c.836G>A (p.Arg279His)]

NM_001159699.2(FHL1):c.836G>A (p.Arg279His)

Gene:

FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.3

Genomic location:

Preferred name:

NM_001159699.2(FHL1):c.836G>A (p.Arg279His)

HGVS:

NC_000023.11:g.136209970G>A
NG_015895.1:g.67571G>A
NM_001159699.2:c.836G>AMANE SELECT
NM_001159700.2:c.788G>A
NM_001159701.2:c.875G>A
NM_001159702.3:c.*16G>A
NM_001159703.2:c.*16G>A
NM_001159704.1:c.788G>A
NM_001167819.1:c.788G>A
NM_001330659.2:c.*16G>A
NM_001369326.1:c.*16G>A
NM_001369327.2:c.*16G>A
NM_001369328.1:c.*16G>A
NM_001369329.1:c.788G>A
NM_001369330.1:c.788G>A
NM_001369331.1:c.788G>A
NM_001449.5:c.788G>A
NP_001153171.1:p.Arg279His
NP_001153172.1:p.Arg263His
NP_001153173.1:p.Arg292His
NP_001153176.1:p.Arg263His
NP_001161291.1:p.Arg263His
NP_001356258.1:p.Arg263His
NP_001356259.1:p.Arg263His
NP_001356260.1:p.Arg263His
NP_001440.2:p.Arg263His
LRG_739t1:c.836G>A
LRG_739t2:c.*16G>A
LRG_739:g.67571G>A
LRG_739p1:p.Arg279His
NC_000023.10:g.135292129G>A
NM_001449.4:c.788G>A
NM_001449.5:c.788G>A
NR_027621.2:n.1199G>A

Protein change:

R263H

Links:

dbSNP: rs377071251

NCBI 1000 Genomes Browser:

rs377071251

Molecular consequence:

NM_001159702.3:c.*16G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001159703.2:c.*16G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001330659.2:c.*16G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369326.1:c.*16G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369327.2:c.*16G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369328.1:c.*16G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001159699.2:c.836G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001159700.2:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001159701.2:c.875G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001159704.1:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001167819.1:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369329.1:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369330.1:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369331.1:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001449.5:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_027621.2:n.1199G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002676868	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 21, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002676868

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 21, 2019)

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, SCV002676868.2

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

Description

The p.R263H variant (also known as c.788G>A), located in coding exon 5 of the FHL1 gene, results from a G to A substitution at nucleotide position 788. The arginine at codon 263 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, 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: Sep 29, 2024

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