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NM_001141917.2(SPATA31F1):c.1419G>T (p.Glu473Asp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 30, 2016
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:
RCV000598269.4

Allele description [Variation Report for NM_001141917.2(SPATA31F1):c.1419G>T (p.Glu473Asp)]

NM_001141917.2(SPATA31F1):c.1419G>T (p.Glu473Asp)

Genes:
PHF24:PHD finger protein 24 [Gene - OMIM - HGNC]
SPATA31F1:SPATA31 subfamily F member 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_001141917.2(SPATA31F1):c.1419G>T (p.Glu473Asp)
HGVS:
  • NC_000009.12:g.34725821C>A
  • NG_052658.1:g.8718G>T
  • NM_001141917.2:c.1419G>TMANE SELECT
  • NP_001135389.1:p.Glu473Asp
  • NC_000009.11:g.34725818C>A
Protein change:
E473D
Links:
dbSNP: rs543661639
NCBI 1000 Genomes Browser:
rs543661639
Molecular consequence:
  • NM_001141917.2:c.1419G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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
SCV000704028Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(Nov 30, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000704028.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Dec 24, 2023