NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) AND not provided

Germline classification:: Benign (3 submissions)
Last evaluated:: Aug 24, 2018
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:: RCV000991990.21

Allele description [Variation Report for NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn)]

NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn)

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.871G>A (p.Asp291Asn)

HGVS:

NC_000023.11:g.136210005G>A
NG_015895.1:g.67606G>A
NM_001159699.2:c.871G>AMANE SELECT
NM_001159700.2:c.823G>A
NM_001159701.2:c.910G>A
NM_001159702.3:c.*51G>A
NM_001159703.2:c.*51G>A
NM_001159704.1:c.823G>A
NM_001167819.1:c.823G>A
NM_001330659.2:c.*51G>A
NM_001369326.1:c.*51G>A
NM_001369327.2:c.*51G>A
NM_001369328.1:c.*51G>A
NM_001369329.1:c.823G>A
NM_001369330.1:c.823G>A
NM_001369331.1:c.823G>A
NM_001449.5:c.823G>A
NP_001153171.1:p.Asp291Asn
NP_001153172.1:p.Asp275Asn
NP_001153173.1:p.Asp304Asn
NP_001153176.1:p.Asp275Asn
NP_001161291.1:p.Asp275Asn
NP_001356258.1:p.Asp275Asn
NP_001356259.1:p.Asp275Asn
NP_001356260.1:p.Asp275Asn
NP_001440.2:p.Asp275Asn
LRG_739t1:c.871G>A
LRG_739t2:c.*51G>A
LRG_739:g.67606G>A
LRG_739p1:p.Asp291Asn
NC_000023.10:g.135292164G>A
NM_001159702.2:c.*51G>A
NM_001449.4:c.823G>A
NR_027621.2:n.1234G>A

Protein change:

D275N

Links:

dbSNP: rs151315725

NCBI 1000 Genomes Browser:

rs151315725

Molecular consequence:

NM_001159702.3:c.*51G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001159703.2:c.*51G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001330659.2:c.*51G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369326.1:c.*51G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369327.2:c.*51G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369328.1:c.*51G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001159699.2:c.871G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001159700.2:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001159701.2:c.910G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001159704.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001167819.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369329.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369330.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369331.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001449.5:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_027621.2:n.1234G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001143923	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Aug 24, 2018)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 27443559, 28611399, 19687455, 19377476, 22523091, 26467025
SCV001800519	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001952924	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001143923

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Aug 24, 2018)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV001800519

Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus

no assertion criteria provided

Likely benign

germline

clinical testing

SCV001952924

Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Likely benign

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.

D'Avila F, Meregalli M, Lupoli S, Barcella M, Orro A, De Santis F, Sitzia C, Farini A, D'Ursi P, Erratico S, Cristofani R, Milanesi L, Braga D, Cusi D, Poletti A, Barlassina C, Torrente Y.

J Muscle Res Cell Motil. 2016 Jun;37(3):101-15. doi: 10.1007/s10974-016-9451-7. Epub 2016 Jul 21.

PubMed [citation]

PMID:: 27443559
PMCID:: PMC5010835

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.

Truszkowska GT, Bilińska ZT, Muchowicz A, Pollak A, Biernacka A, Kozar-Kamińska K, Stawiński P, Gasperowicz P, Kosińska J, Zieliński T, Płoski R.

Sci Rep. 2017 Jun 13;7(1):3362. doi: 10.1038/s41598-017-03189-8.

PubMed [citation]

PMID:: 28611399
PMCID:: PMC5469774

See all PubMed Citations (6)

Details of each submission

From Athena Diagnostics, SCV001143923.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

#	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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001800519.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001952924.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 29, 2024

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