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NM_001371596.2(MFSD8):c.1041A>G (p.Val347=) AND Late-infantile neuronal ceroid lipofuscinosis

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 18, 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:
RCV001826792.9

Allele description [Variation Report for NM_001371596.2(MFSD8):c.1041A>G (p.Val347=)]

NM_001371596.2(MFSD8):c.1041A>G (p.Val347=)

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.1041A>G (p.Val347=)
Other names:
p.V347V:GTA>GTG
HGVS:
  • NC_000004.12:g.127921921T>C
  • NG_008657.1:g.49064A>G
  • NM_001363520.3:c.840A>G
  • NM_001363521.3:c.726A>G
  • NM_001371590.2:c.906A>G
  • NM_001371591.2:c.1041A>G
  • NM_001371592.2:c.1047A>G
  • NM_001371593.2:c.927A>G
  • NM_001371594.2:c.894A>G
  • NM_001371595.1:c.759A>G
  • NM_001371596.2:c.1041A>GMANE SELECT
  • NM_001410765.1:c.591A>G
  • NM_001410766.1:c.885-150A>G
  • NM_152778.4:c.1041A>G
  • NP_001350449.1:p.Val280=
  • NP_001350450.1:p.Val242=
  • NP_001358519.1:p.Val302=
  • NP_001358520.1:p.Val347=
  • NP_001358521.1:p.Val349=
  • NP_001358522.1:p.Val309=
  • NP_001358523.1:p.Val298=
  • NP_001358524.1:p.Val253=
  • NP_001358525.1:p.Val347=
  • NP_001397694.1:p.Val197=
  • NP_689991.1:p.Val347=
  • LRG_833t1:c.1041A>G
  • LRG_833t2:c.1041A>G
  • LRG_833:g.49064A>G
  • LRG_833p1:p.Val347=
  • LRG_833p2:p.Val347=
  • NC_000004.11:g.128843076T>C
  • NM_152778.2:c.1041A>G
  • p.Val347Val
Links:
dbSNP: rs148291156
NCBI 1000 Genomes Browser:
rs148291156
Molecular consequence:
  • NM_001410766.1:c.885-150A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363520.3:c.840A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001363521.3:c.726A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001371590.2:c.906A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001371591.2:c.1041A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001371592.2:c.1047A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001371593.2:c.927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001371594.2:c.894A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001371595.1:c.759A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001371596.2:c.1041A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001410765.1:c.591A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_152778.4:c.1041A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002084768Natera, Inc.
no assertion criteria provided
Benign
(Dec 18, 2019) 		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., SCV002084768.1

#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: Oct 26, 2024