NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) AND Retinal dystrophy

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000505174.1

Allele description [Variation Report for NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)]

NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)

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.1361T>C (p.Met454Thr)
HGVS:
  • NC_000004.12:g.127920826A>G
  • NG_008657.1:g.50159T>C
  • NM_001363520.2:c.1160T>C
  • NM_001363521.2:c.1046T>C
  • NM_001371590.1:c.1226T>C
  • NM_001371591.1:c.1370T>C
  • NM_001371592.1:c.1367T>C
  • NM_001371593.1:c.1247T>C
  • NM_001371594.1:c.1214T>C
  • NM_001371595.1:c.1079T>C
  • NM_001371596.2:c.1361T>CMANE SELECT
  • NM_152778.4:c.1361T>C
  • NP_001350449.1:p.Met387Thr
  • NP_001350450.1:p.Met349Thr
  • NP_001358519.1:p.Met409Thr
  • NP_001358520.1:p.Met457Thr
  • NP_001358521.1:p.Met456Thr
  • NP_001358522.1:p.Met416Thr
  • NP_001358523.1:p.Met405Thr
  • NP_001358524.1:p.Met360Thr
  • NP_001358525.1:p.Met454Thr
  • NP_689991.1:p.Met454Thr
  • LRG_833t1:c.1361T>C
  • LRG_833t2:c.1361T>C
  • LRG_833:g.50159T>C
  • LRG_833p1:p.Met454Thr
  • LRG_833p2:p.Met454Thr
  • NC_000004.11:g.128841981A>G
  • NM_152778.2:c.1361T>C
Protein change:
M349T
Links:
dbSNP: rs559155109
NCBI 1000 Genomes Browser:
rs559155109
Molecular consequence:
  • NM_001363520.2:c.1160T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363521.2:c.1046T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371590.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371591.1:c.1370T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371592.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371593.1:c.1247T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371594.1:c.1214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371595.1:c.1079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371596.2:c.1361T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152778.4:c.1361T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000598757NIHR Bioresource Rare Diseases, University of Cambridgeno assertion criteria providedLikely pathogenic
(Jan 1, 2015)
unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South East Asianunknownyes2not providednot provided2not providedresearch

Citations

PubMed

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

PatiƱo LC, Battu R, Ortega-Recalde O, Nallathambi J, Anandula VR, Renukaradhya U, Laissue P.

PLoS One. 2014;9(10):e109576. doi: 10.1371/journal.pone.0109576.

PubMed [citation]
PMID:
25333361
PMCID:
PMC4198115

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]
PMID:
28041643
PMCID:
PMC5223092

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000598757.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South East Asian1not providednot providedresearch PubMed (2)
2South East Asian1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided
2unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

Support Center