NM_001371596.2(MFSD8):c.1025dup (p.Gly343fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 15, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003147212.3

Allele description [Variation Report for NM_001371596.2(MFSD8):c.1025dup (p.Gly343fs)]

NM_001371596.2(MFSD8):c.1025dup (p.Gly343fs)

Gene:

MFSD8:major facilitator superfamily domain containing 8 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

4q28.2

Genomic location:

Preferred name:

NM_001371596.2(MFSD8):c.1025dup (p.Gly343fs)

HGVS:

NC_000004.12:g.127921939dup
NG_008657.1:g.49048dup
NM_001363520.3:c.822dup
NM_001363521.3:c.708dup
NM_001371590.2:c.888dup
NM_001371591.2:c.1023dup
NM_001371592.2:c.1029dup
NM_001371593.2:c.909dup
NM_001371594.2:c.876dup
NM_001371595.1:c.743dup
NM_001371596.2:c.1025dupMANE SELECT
NM_001410765.1:c.573dup
NM_152778.4:c.1025dup
NP_001350449.1:p.Gly276Argfs
NP_001350449.1:p.Gly276fs
NP_001350450.1:p.Gly238Argfs
NP_001350450.1:p.Gly238fs
NP_001358519.1:p.Gly298Argfs
NP_001358519.1:p.Gly298fs
NP_001358520.1:p.Gly343Argfs
NP_001358520.1:p.Gly343fs
NP_001358521.1:p.Gly345Argfs
NP_001358521.1:p.Gly345fs
NP_001358522.1:p.Gly305Argfs
NP_001358522.1:p.Gly305fs
NP_001358523.1:p.Gly294Argfs
NP_001358523.1:p.Gly294fs
NP_001358524.1:p.Gly249fs
NP_001358525.1:p.Gly343fs
NP_001397694.1:p.Gly193Argfs
NP_689991.1:p.Gly343fs
LRG_833t1:c.1025dup
LRG_833t2:c.1025dup
LRG_833:g.49048dup
LRG_833p1:p.Gly343fs
LRG_833p2:p.Gly343fs
NC_000004.11:g.128843094dup
NM_001363520.2:c.824dup
NM_001363521.2:c.710dup
NM_001371590.1:c.890dup
NM_001371591.1:c.1025dup
NM_001371592.1:c.1031dup
NM_001371593.1:c.911dup
NM_001371594.1:c.878dup
NM_152778.3:c.1025dup

Protein change:

G238fs

Molecular consequence:

NM_001363520.3:c.822dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363521.3:c.708dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371590.2:c.888dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371591.2:c.1023dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371592.2:c.1029dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371593.2:c.909dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371594.2:c.876dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371595.1:c.743dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371596.2:c.1025dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001410765.1:c.573dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_152778.4:c.1025dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV003834021	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 15, 2021)	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

SCV003834021

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 15, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV003834021.2

#	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: Mar 16, 2024

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