NM_001159699.2(FHL1):c.810dup (p.Cys271fs) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 1, 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:: RCV002393493.2

Allele description [Variation Report for NM_001159699.2(FHL1):c.810dup (p.Cys271fs)]

NM_001159699.2(FHL1):c.810dup (p.Cys271fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

Xq26.3

Genomic location:

Preferred name:

NM_001159699.2(FHL1):c.810dup (p.Cys271fs)

HGVS:

NC_000023.11:g.136209944dup
NG_015895.1:g.67545dup
NM_001159699.2:c.810dupMANE SELECT
NM_001159700.2:c.762dup
NM_001159701.2:c.849dup
NM_001159702.3:c.962dup
NM_001159703.2:c.575dup
NM_001159704.1:c.762dup
NM_001167819.1:c.762dup
NM_001330659.2:c.623dup
NM_001369326.1:c.962dup
NM_001369327.2:c.962dup
NM_001369328.1:c.962dup
NM_001369329.1:c.762dup
NM_001369330.1:c.762dup
NM_001369331.1:c.762dup
NM_001449.5:c.762dup
NP_001153171.1:p.Cys271fs
NP_001153172.1:p.Cys255fs
NP_001153173.1:p.Cys284fs
NP_001153174.1:p.Asn321fs
NP_001153175.1:p.Asn192fs
NP_001153176.1:p.Cys255fs
NP_001161291.1:p.Cys255fs
NP_001317588.1:p.Asn208fs
NP_001356255.1:p.Asn321fs
NP_001356256.1:p.Asn321fs
NP_001356257.1:p.Asn321fs
NP_001356258.1:p.Cys255fs
NP_001356259.1:p.Cys255fs
NP_001356260.1:p.Cys255fs
NP_001440.2:p.Cys255fs
LRG_739t1:c.810dup
LRG_739t2:c.962dup
LRG_739:g.67545dup
LRG_739p1:p.Cys271fs
LRG_739p2:p.Asn321fs
NC_000023.10:g.135292097_135292098insA
NC_000023.10:g.135292103dup
NM_001449.4:c.762dup
NM_001449.4:c.762dupA
NR_027621.2:n.1173dup

Protein change:

C255fs

Links:

dbSNP: rs2073964376

NCBI 1000 Genomes Browser:

rs2073964376

Molecular consequence:

NM_001159699.2:c.810dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159700.2:c.762dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159701.2:c.849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159702.3:c.962dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159703.2:c.575dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159704.1:c.762dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001167819.1:c.762dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330659.2:c.623dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369326.1:c.962dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369327.2:c.962dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369328.1:c.962dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369329.1:c.762dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369330.1:c.762dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369331.1:c.762dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001449.5:c.762dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027621.2:n.1173dup - 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
SCV002672793	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002672793

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 1, 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, SCV002672793.2

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

Description

The c.762dupA variant, located in coding exon 5 of the FHL1 gene, results from a duplication of A at nucleotide position 762, causing a translational frameshift with a predicted alternate stop codon (p.C255Mfs*29). This alteration occurs at the 3' terminus of theFHL1 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 26 amino acids of the protein. The exact functional effect of this alteration is unknown. 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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