NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg) AND not specified

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Dec 10, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000117616.24

Allele description [Variation Report for NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg)]

NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg)

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.1153G>C (p.Gly385Arg)

Other names:

p.G385R:GGT>CGT

HGVS:

NC_000004.12:g.127921721C>G
NG_008657.1:g.49264G>C
NM_001363520.3:c.952G>C
NM_001363521.3:c.838G>C
NM_001371590.2:c.1018G>C
NM_001371591.2:c.1153G>C
NM_001371592.2:c.1159G>C
NM_001371593.2:c.1039G>C
NM_001371594.2:c.1006G>C
NM_001371595.1:c.871G>C
NM_001371596.2:c.1153G>CMANE SELECT
NM_001410765.1:c.703G>C
NM_001410766.1:c.*38G>C
NM_152778.4:c.1153G>C
NP_001350449.1:p.Gly318Arg
NP_001350449.1:p.Gly318Arg
NP_001350450.1:p.Gly280Arg
NP_001350450.1:p.Gly280Arg
NP_001358519.1:p.Gly340Arg
NP_001358519.1:p.Gly340Arg
NP_001358520.1:p.Gly385Arg
NP_001358520.1:p.Gly385Arg
NP_001358521.1:p.Gly387Arg
NP_001358521.1:p.Gly387Arg
NP_001358522.1:p.Gly347Arg
NP_001358522.1:p.Gly347Arg
NP_001358523.1:p.Gly336Arg
NP_001358523.1:p.Gly336Arg
NP_001358524.1:p.Gly291Arg
NP_001358525.1:p.Gly385Arg
NP_001397694.1:p.Gly235Arg
NP_689991.1:p.Gly385Arg
NP_689991.1:p.Gly385Arg
LRG_833t1:c.1153G>C
LRG_833t2:c.1153G>C
LRG_833:g.49264G>C
LRG_833p1:p.Gly385Arg
LRG_833p2:p.Gly385Arg
NC_000004.11:g.128842876C>G
NM_001363520.2:c.952G>C
NM_001363521.2:c.838G>C
NM_001371590.1:c.1018G>C
NM_001371591.1:c.1153G>C
NM_001371592.1:c.1159G>C
NM_001371593.1:c.1039G>C
NM_001371594.1:c.1006G>C
NM_152778.2:c.1153G>C
NM_152778.3:c.1153G>C
Q8NHS3:p.Gly385Arg

Protein change:

G235R

Links:

UniProtKB: Q8NHS3#VAR_037178; dbSNP: rs11098943

NCBI 1000 Genomes Browser:

rs11098943

Molecular consequence:

NM_001363520.3:c.952G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001363521.3:c.838G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001371590.2:c.1018G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001371591.2:c.1153G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001371592.2:c.1159G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001371593.2:c.1039G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001371594.2:c.1006G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001371595.1:c.871G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001371596.2:c.1153G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001410765.1:c.703G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_152778.4:c.1153G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000151846	Genetic Services Laboratory, University of Chicago	no assertion criteria provided	Likely benign	germline	clinical testing
SCV000203019	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Apr 7, 2014)	germline	clinical testing	Citation Link,
SCV002051033	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Dec 10, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000151846

Genetic Services Laboratory, University of Chicago

no assertion criteria provided

Likely benign

germline

clinical testing

SCV000203019

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Apr 7, 2014)

germline

clinical testing

Citation Link,

SCV002051033

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Dec 10, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000151846.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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

From Eurofins Ntd Llc (ga), SCV000203019.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002051033.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Jun 14, 2025

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