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

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2015
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:: RCV000505174.9

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_001363520.3:c.1160T>C
NM_001363521.3:c.1046T>C
NM_001371590.2:c.1226T>C
NM_001371591.2:c.1370T>C
NM_001371592.2:c.1367T>C
NM_001371593.2:c.1247T>C
NM_001371594.2:c.1214T>C
NM_001371595.1:c.1079T>C
NM_001371596.2:c.1361T>CMANE SELECT
NM_001410765.1:c.911T>C
NM_001410766.1:c.*933T>C
NM_152778.3:c.1361T>C
NM_152778.4:c.1361T>C
NP_001350449.1:p.Met387Thr
NP_001350449.1:p.Met387Thr
NP_001350450.1:p.Met349Thr
NP_001350450.1:p.Met349Thr
NP_001358519.1:p.Met409Thr
NP_001358519.1:p.Met409Thr
NP_001358520.1:p.Met457Thr
NP_001358520.1:p.Met457Thr
NP_001358521.1:p.Met456Thr
NP_001358521.1:p.Met456Thr
NP_001358522.1:p.Met416Thr
NP_001358522.1:p.Met416Thr
NP_001358523.1:p.Met405Thr
NP_001358523.1:p.Met405Thr
NP_001358524.1:p.Met360Thr
NP_001358525.1:p.Met454Thr
NP_001397694.1:p.Met304Thr
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_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_001371596.2:c.1361T>C
NM_152778.2:c.1361T>C

Protein change:

M304T

Links:

dbSNP: rs559155109

NCBI 1000 Genomes Browser:

rs559155109

Molecular consequence:

NM_001363520.3:c.1160T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001363521.3:c.1046T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001371590.2:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001371591.2:c.1370T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001371592.2:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001371593.2:c.1247T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001371594.2: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_001410765.1:c.911T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_152778.4:c.1361T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000598757	NIHR Bioresource Rare Diseases, University of Cambridge	no assertion criteria provided	Likely pathogenic (Jan 1, 2015)	unknown	research	PubMed (2) [See all records that cite these PMIDs] 25333361, 28041643

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000598757

NIHR Bioresource Rare Diseases, University of Cambridge

no assertion criteria provided

Likely pathogenic
(Jan 1, 2015)

unknown

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
South East Asian	unknown	yes	2	not provided	not provided	2	not provided	research

Citations

PubMed

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

Patiño 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	South East Asian	1	not provided	not provided	research	PubMed (2)
2	South East Asian	1	not provided	not provided	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
2	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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