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NM_001371596.2(MFSD8):c.34C>T (p.Pro12Ser) AND Late-infantile neuronal ceroid lipofuscinosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 28, 2019
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:
RCV001828002.2

Allele description [Variation Report for NM_001371596.2(MFSD8):c.34C>T (p.Pro12Ser)]

NM_001371596.2(MFSD8):c.34C>T (p.Pro12Ser)

Gene:
MFSD8:major facilitator superfamily domain containing 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q28.2
Genomic location:
Preferred name:
NM_001371596.2(MFSD8):c.34C>T (p.Pro12Ser)
Other names:
p.P12S:CCG>TCG
HGVS:
  • NC_000004.12:g.127965100G>A
  • NG_008657.1:g.5885C>T
  • NG_103459.1:g.211G>A
  • NM_001363520.3:c.34C>T
  • NM_001363521.3:c.34C>T
  • NM_001371590.2:c.-74+797C>T
  • NM_001371591.2:c.34C>T
  • NM_001371592.2:c.34C>T
  • NM_001371593.2:c.34C>T
  • NM_001371594.2:c.34C>T
  • NM_001371595.1:c.-100C>T
  • NM_001371596.2:c.34C>TMANE SELECT
  • NM_001410765.1:c.-74+797C>T
  • NM_001410766.1:c.34C>T
  • NM_152778.4:c.34C>T
  • NP_001350449.1:p.Pro12Ser
  • NP_001350450.1:p.Pro12Ser
  • NP_001358520.1:p.Pro12Ser
  • NP_001358521.1:p.Pro12Ser
  • NP_001358522.1:p.Pro12Ser
  • NP_001358523.1:p.Pro12Ser
  • NP_001358525.1:p.Pro12Ser
  • NP_001397695.1:p.Pro12Ser
  • NP_689991.1:p.Pro12Ser
  • LRG_833t1:c.34C>T
  • LRG_833t2:c.34C>T
  • LRG_833:g.5885C>T
  • LRG_833p1:p.Pro12Ser
  • LRG_833p2:p.Pro12Ser
  • NC_000004.11:g.128886255G>A
  • NM_152778.2:c.34C>T
Protein change:
P12S
Links:
dbSNP: rs371882083
NCBI 1000 Genomes Browser:
rs371882083
Molecular consequence:
  • NM_001371595.1:c.-100C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371590.2:c.-74+797C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001410765.1:c.-74+797C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363520.3:c.34C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363521.3:c.34C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371591.2:c.34C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371592.2:c.34C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371593.2:c.34C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371594.2:c.34C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371596.2:c.34C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410766.1:c.34C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152778.4:c.34C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Late-infantile neuronal ceroid lipofuscinosis
Synonyms:
Jansky-Bielschowsky disease
Identifiers:
MONDO: MONDO:0015674; MedGen: C0022340

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002084815Natera, Inc.
no assertion criteria provided
Uncertain significance
(Oct 28, 2019)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002084815.1

#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: Sep 29, 2024