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NM_001371596.2(MFSD8):c.707G>A (p.Arg236His) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Mar 26, 2024
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:
RCV004692195.2

Allele description [Variation Report for NM_001371596.2(MFSD8):c.707G>A (p.Arg236His)]

NM_001371596.2(MFSD8):c.707G>A (p.Arg236His)

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.707G>A (p.Arg236His)
HGVS:
  • NC_000004.12:g.127938830C>T
  • NG_008657.1:g.32155G>A
  • NM_001363520.3:c.553+3215G>A
  • NM_001363521.3:c.439+4922G>A
  • NM_001371590.2:c.572G>A
  • NM_001371591.2:c.707G>A
  • NM_001371592.2:c.713G>A
  • NM_001371593.2:c.593G>A
  • NM_001371594.2:c.560G>A
  • NM_001371595.1:c.425G>A
  • NM_001371596.2:c.707G>AMANE SELECT
  • NM_001410765.1:c.304+4922G>A
  • NM_001410766.1:c.593G>A
  • NM_152778.4:c.707G>A
  • NP_001358519.1:p.Arg191His
  • NP_001358520.1:p.Arg236His
  • NP_001358521.1:p.Arg238His
  • NP_001358522.1:p.Arg198His
  • NP_001358523.1:p.Arg187His
  • NP_001358524.1:p.Arg142His
  • NP_001358525.1:p.Arg236His
  • NP_001397695.1:p.Arg198His
  • NP_689991.1:p.Arg236His
  • NP_689991.1:p.Arg236His
  • LRG_833t1:c.707G>A
  • LRG_833t2:c.707G>A
  • LRG_833:g.32155G>A
  • LRG_833p1:p.Arg236His
  • LRG_833p2:p.Arg236His
  • NC_000004.11:g.128859985C>T
  • NM_152778.2:c.707G>A
  • NM_152778.3:c.707G>A
Protein change:
R142H
Links:
dbSNP: rs371250204
NCBI 1000 Genomes Browser:
rs371250204
Molecular consequence:
  • NM_001363520.3:c.553+3215G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363521.3:c.439+4922G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001410765.1:c.304+4922G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371590.2:c.572G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371591.2:c.707G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371592.2:c.713G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371593.2:c.593G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371594.2:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371595.1:c.425G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371596.2:c.707G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410766.1:c.593G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152778.4:c.707G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005190278Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significancegermlinenot provided

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

SCV005334503GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Mar 26, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing, not provided

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 Breakthrough Genomics, Breakthrough Genomics, SCV005190278.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV005334503.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32399599)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024