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NM_001288705.3(CSF1R):c.2546T>C (p.Phe849Ser) AND Hereditary diffuse leukoencephalopathy with spheroids

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 30, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000031934.2

Allele description

NM_001288705.3(CSF1R):c.2546T>C (p.Phe849Ser)

Gene:
CSF1R:colony stimulating factor 1 receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_001288705.3(CSF1R):c.2546T>C (p.Phe849Ser)
HGVS:
  • NC_000005.10:g.150056034A>G
  • NG_012303.2:g.62339T>C
  • NM_001288705.3:c.2546T>CMANE SELECT
  • NM_001349736.2:c.2546T>C
  • NM_001375320.1:c.2546T>C
  • NM_001375321.1:c.2102T>C
  • NM_005211.4:c.2546T>C
  • NP_001275634.1:p.Phe849Ser
  • NP_001336665.1:p.Phe849Ser
  • NP_001362249.1:p.Phe849Ser
  • NP_001362250.1:p.Phe701Ser
  • NP_005202.2:p.Phe849Ser
  • NP_005202.2:p.Phe849Ser
  • NC_000005.9:g.149435597A>G
  • NM_005211.3:c.2546T>C
  • NR_109969.2:n.2510T>C
  • NR_164679.1:n.2439T>C
  • P07333:p.Phe849Ser
Protein change:
F701S
Links:
UniProtKB: P07333#VAR_067407; dbSNP: rs281860277
NCBI 1000 Genomes Browser:
rs281860277
Molecular consequence:
  • NM_001288705.3:c.2546T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349736.2:c.2546T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375320.1:c.2546T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375321.1:c.2102T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005211.4:c.2546T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_109969.2:n.2510T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164679.1:n.2439T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary diffuse leukoencephalopathy with spheroids (HDLS1)
Synonyms:
DEMENTIA, FAMILIAL, NEUMANN TYPE; SUBCORTICAL GLIOSIS OF NEUMANN; Gliosis, familial progressive subcortical; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009096; MedGen: C3711381; Orphanet: 313808; OMIM: 221820

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000054588GeneReviews
no assertion criteria provided
pathologic
(Aug 30, 2012) 		not providedcuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000054588.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Apr 23, 2022