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NM_001371596.2(MFSD8):c.1103-10_1103-6del AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 15, 2023
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:
RCV001704714.4

Allele description [Variation Report for NM_001371596.2(MFSD8):c.1103-10_1103-6del]

NM_001371596.2(MFSD8):c.1103-10_1103-6del

Gene:
MFSD8:major facilitator superfamily domain containing 8 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
4q28.2
Genomic location:
Preferred name:
NM_001371596.2(MFSD8):c.1103-10_1103-6del
HGVS:
  • NC_000004.12:g.127921777AAAAC[1]
  • NG_008657.1:g.49199GTTTT[1]
  • NM_001363520.3:c.902-10_902-6del
  • NM_001363521.3:c.788-10_788-6del
  • NM_001371590.2:c.968-10_968-6del
  • NM_001371591.2:c.1103-10_1103-6del
  • NM_001371592.2:c.1109-10_1109-6del
  • NM_001371593.2:c.989-10_989-6del
  • NM_001371594.2:c.956-10_956-6del
  • NM_001371595.1:c.821-10_821-6del
  • NM_001371596.2:c.1103-10_1103-6delMANE SELECT
  • NM_001410765.1:c.653-10_653-6del
  • NM_001410766.1:c.885-10_885-6del
  • NM_152778.4:c.1103-10_1103-6del
  • LRG_833t1:c.1103-10_1103-6del
  • LRG_833t2:c.1103-10_1103-6del
  • LRG_833:g.49199GTTTT[1]
  • NC_000004.11:g.128842932AAAAC[1]
  • NC_000004.11:g.128842932_128842936del
  • NM_152778.2:c.1103-10_1103-6delGTTTT
  • NM_152778.2:c.1103-10_1103-6delGTTTT
Links:
dbSNP: rs1212979817
NCBI 1000 Genomes Browser:
rs1212979817
Molecular consequence:
  • NM_001363520.3:c.902-10_902-6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363521.3:c.788-10_788-6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371590.2:c.968-10_968-6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371591.2:c.1103-10_1103-6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371592.2:c.1109-10_1109-6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371593.2:c.989-10_989-6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371594.2:c.956-10_956-6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371595.1:c.821-10_821-6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371596.2:c.1103-10_1103-6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001410765.1:c.653-10_653-6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001410766.1:c.885-10_885-6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_152778.4:c.1103-10_1103-6del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000714380GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Mar 15, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000714380.2

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

Description

See Variant Classification Assertion Criteria.

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

Last Updated: Sep 29, 2024