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

Germline classification:: Benign (3 submissions)
Last evaluated:: Dec 27, 2018
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:: RCV000675987.16

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]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000170275	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Dec 5, 2018)	germline	clinical testing	Citation Link,
SCV000801719	Mayo Clinic Laboratories, Mayo Clinic	no assertion criteria provided	Benign (Mar 16, 2017)	unknown	clinical testing
SCV001144506	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Dec 27, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000170275

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Dec 5, 2018)

germline

clinical testing

Citation Link,

SCV000801719

Mayo Clinic Laboratories, Mayo Clinic

no assertion criteria provided

Benign
(Mar 16, 2017)

unknown

clinical testing

SCV001144506

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Dec 27, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From GeneDx, SCV000170275.12

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

Description

This variant is associated with the following publications: (PMID: 27903347, 30382371)

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801719.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Athena Diagnostics, SCV001144506.1

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

#	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: Aug 18, 2024

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