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NM_001351169.2(NT5C2):c.1106T>C (p.Phe369Ser) AND Hereditary spastic paraplegia 45

Germline classification:
Likely pathogenic (1 submission)
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:
RCV003885396.1

Allele description [Variation Report for NM_001351169.2(NT5C2):c.1106T>C (p.Phe369Ser)]

NM_001351169.2(NT5C2):c.1106T>C (p.Phe369Ser)

Gene:
NT5C2:5'-nucleotidase, cytosolic II [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q24.32
Genomic location:
Preferred name:
NM_001351169.2(NT5C2):c.1106T>C (p.Phe369Ser)
HGVS:
  • NC_000010.11:g.103093192A>G
  • NG_042272.1:g.105115T>C
  • NM_001134373.3:c.1106T>C
  • NM_001351169.2:c.1106T>CMANE SELECT
  • NM_001351170.2:c.1130T>C
  • NM_001351171.2:c.1130T>C
  • NM_001351172.2:c.1130T>C
  • NM_001351173.2:c.1130T>C
  • NM_001351174.1:c.1019T>C
  • NM_001351175.2:c.1013T>C
  • NM_001351176.2:c.533T>C
  • NM_001351177.2:c.533T>C
  • NM_001351178.2:c.533T>C
  • NM_001351179.2:c.533T>C
  • NM_001351180.2:c.533T>C
  • NM_001351181.2:c.533T>C
  • NM_001351182.2:c.533T>C
  • NM_001351183.2:c.533T>C
  • NM_001351184.2:c.533T>C
  • NM_001351185.2:c.533T>C
  • NM_001351186.2:c.533T>C
  • NM_001351187.2:c.533T>C
  • NM_001351188.2:c.533T>C
  • NM_001351189.2:c.533T>C
  • NM_001351190.2:c.533T>C
  • NM_001351191.1:c.533T>C
  • NM_001351192.1:c.533T>C
  • NM_001351193.1:c.533T>C
  • NM_001351194.2:c.392T>C
  • NM_001351195.2:c.392T>C
  • NM_001351196.2:c.392T>C
  • NM_001351197.2:c.533T>C
  • NM_012229.5:c.1106T>C
  • NP_001127845.1:p.Phe369Ser
  • NP_001127845.1:p.Phe369Ser
  • NP_001338098.1:p.Phe369Ser
  • NP_001338098.1:p.Phe369Ser
  • NP_001338099.1:p.Phe377Ser
  • NP_001338099.1:p.Phe377Ser
  • NP_001338100.1:p.Phe377Ser
  • NP_001338100.1:p.Phe377Ser
  • NP_001338101.1:p.Phe377Ser
  • NP_001338101.1:p.Phe377Ser
  • NP_001338102.1:p.Phe377Ser
  • NP_001338102.1:p.Phe377Ser
  • NP_001338103.1:p.Phe340Ser
  • NP_001338104.1:p.Phe338Ser
  • NP_001338104.1:p.Phe338Ser
  • NP_001338105.1:p.Phe178Ser
  • NP_001338105.1:p.Phe178Ser
  • NP_001338106.1:p.Phe178Ser
  • NP_001338106.1:p.Phe178Ser
  • NP_001338107.1:p.Phe178Ser
  • NP_001338107.1:p.Phe178Ser
  • NP_001338108.1:p.Phe178Ser
  • NP_001338108.1:p.Phe178Ser
  • NP_001338109.1:p.Phe178Ser
  • NP_001338109.1:p.Phe178Ser
  • NP_001338110.1:p.Phe178Ser
  • NP_001338110.1:p.Phe178Ser
  • NP_001338111.1:p.Phe178Ser
  • NP_001338111.1:p.Phe178Ser
  • NP_001338112.1:p.Phe178Ser
  • NP_001338112.1:p.Phe178Ser
  • NP_001338113.1:p.Phe178Ser
  • NP_001338113.1:p.Phe178Ser
  • NP_001338114.1:p.Phe178Ser
  • NP_001338114.1:p.Phe178Ser
  • NP_001338115.1:p.Phe178Ser
  • NP_001338115.1:p.Phe178Ser
  • NP_001338116.1:p.Phe178Ser
  • NP_001338116.1:p.Phe178Ser
  • NP_001338117.1:p.Phe178Ser
  • NP_001338117.1:p.Phe178Ser
  • NP_001338118.1:p.Phe178Ser
  • NP_001338118.1:p.Phe178Ser
  • NP_001338119.1:p.Phe178Ser
  • NP_001338119.1:p.Phe178Ser
  • NP_001338120.1:p.Phe178Ser
  • NP_001338121.1:p.Phe178Ser
  • NP_001338122.1:p.Phe178Ser
  • NP_001338123.1:p.Phe131Ser
  • NP_001338123.1:p.Phe131Ser
  • NP_001338124.1:p.Phe131Ser
  • NP_001338124.1:p.Phe131Ser
  • NP_001338125.1:p.Phe131Ser
  • NP_001338125.1:p.Phe131Ser
  • NP_001338126.1:p.Phe178Ser
  • NP_001338126.1:p.Phe178Ser
  • NP_036361.1:p.Phe369Ser
  • NP_036361.1:p.Phe369Ser
  • NC_000010.10:g.104852949A>G
  • NM_001134373.2:c.1106T>C
  • NM_001351169.1:c.1106T>C
  • NM_001351170.1:c.1130T>C
  • NM_001351171.1:c.1130T>C
  • NM_001351172.1:c.1130T>C
  • NM_001351173.1:c.1130T>C
  • NM_001351175.1:c.1013T>C
  • NM_001351176.1:c.533T>C
  • NM_001351177.1:c.533T>C
  • NM_001351178.1:c.533T>C
  • NM_001351179.1:c.533T>C
  • NM_001351180.1:c.533T>C
  • NM_001351181.1:c.533T>C
  • NM_001351182.1:c.533T>C
  • NM_001351183.1:c.533T>C
  • NM_001351184.1:c.533T>C
  • NM_001351185.1:c.533T>C
  • NM_001351186.1:c.533T>C
  • NM_001351187.1:c.533T>C
  • NM_001351188.1:c.533T>C
  • NM_001351189.1:c.533T>C
  • NM_001351190.1:c.533T>C
  • NM_001351194.1:c.392T>C
  • NM_001351195.1:c.392T>C
  • NM_001351196.1:c.392T>C
  • NM_001351197.1:c.533T>C
  • NM_012229.4:c.1106T>C
Protein change:
F131S
Molecular consequence:
  • NM_001134373.3:c.1106T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351169.2:c.1106T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351170.2:c.1130T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351171.2:c.1130T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351172.2:c.1130T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351173.2:c.1130T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351174.1:c.1019T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351175.2:c.1013T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351176.2:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351177.2:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351178.2:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351179.2:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351180.2:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351181.2:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351182.2:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351183.2:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351184.2:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351185.2:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351186.2:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351187.2:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351188.2:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351189.2:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351190.2:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351191.1:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351192.1:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351193.1:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351194.2:c.392T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351195.2:c.392T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351196.2:c.392T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351197.2:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012229.5:c.1106T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary spastic paraplegia 45
Synonyms:
Spastic paraplegia 45, autosomal recessive; SPASTIC PARAPLEGIA 45
Identifiers:
MONDO: MONDO:0013165; MedGen: C3888209; Orphanet: 320396; OMIM: 613162

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004697960Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea
no assertion criteria provided
Likely pathogenicmaternalclinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, SCV004697960.1

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

Last Updated: Mar 10, 2024