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NM_001371596.2(MFSD8):c.541A>G (p.Ile181Val) AND Late-infantile neuronal ceroid lipofuscinosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 2020
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:
RCV001827240.2

Allele description [Variation Report for NM_001371596.2(MFSD8):c.541A>G (p.Ile181Val)]

NM_001371596.2(MFSD8):c.541A>G (p.Ile181Val)

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.541A>G (p.Ile181Val)
HGVS:
  • NC_000004.12:g.127942057T>C
  • NG_008657.1:g.28928A>G
  • NM_001363520.3:c.541A>G
  • NM_001363521.3:c.439+1695A>G
  • NM_001371590.2:c.406A>G
  • NM_001371591.2:c.541A>G
  • NM_001371592.2:c.541A>G
  • NM_001371593.2:c.439+1695A>G
  • NM_001371594.2:c.541A>G
  • NM_001371595.1:c.406A>G
  • NM_001371596.2:c.541A>GMANE SELECT
  • NM_001410765.1:c.304+1695A>G
  • NM_001410766.1:c.439+1695A>G
  • NM_152778.4:c.541A>G
  • NP_001350449.1:p.Ile181Val
  • NP_001358519.1:p.Ile136Val
  • NP_001358520.1:p.Ile181Val
  • NP_001358521.1:p.Ile181Val
  • NP_001358523.1:p.Ile181Val
  • NP_001358524.1:p.Ile136Val
  • NP_001358525.1:p.Ile181Val
  • NP_689991.1:p.Ile181Val
  • LRG_833t1:c.541A>G
  • LRG_833t2:c.541A>G
  • LRG_833:g.28928A>G
  • LRG_833p1:p.Ile181Val
  • LRG_833p2:p.Ile181Val
  • NC_000004.11:g.128863212T>C
  • NM_152778.2:c.541A>G
Protein change:
I136V
Links:
dbSNP: rs770057458
NCBI 1000 Genomes Browser:
rs770057458
Molecular consequence:
  • NM_001363521.3:c.439+1695A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371593.2:c.439+1695A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001410765.1:c.304+1695A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001410766.1:c.439+1695A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363520.3:c.541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371590.2:c.406A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371591.2:c.541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371592.2:c.541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371594.2:c.541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371595.1:c.406A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371596.2:c.541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152778.4:c.541A>G - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002084794Natera, Inc.
no assertion criteria provided
Uncertain significance
(Sep 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002084794.1

#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