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NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) AND Familial hemophagocytic lymphohistiocytosis type 1

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 19, 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:
RCV003741168.1

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)

Name:
Familial hemophagocytic lymphohistiocytosis type 1
Synonyms:
ERYTHROPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL; HEMOPHAGOCYTIC RETICULOSIS, FAMILIAL; RETICULOSIS, FAMILIAL HISTIOCYTIC
Identifiers:
MONDO: MONDO:0009974; MedGen: C4551514; Orphanet: 540; OMIM: 267700

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001157535ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Benign
(Oct 19, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001157535.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024