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NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001535483.1

Allele description [Variation Report for NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr)]

NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr)

Gene:
SPATA7:spermatogenesis associated 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q31.3
Genomic location:
Preferred name:
NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr)
HGVS:
  • NC_000014.9:g.88433164T>C
  • NG_021183.1:g.52521T>C
  • NM_001040428.4:c.1016T>C
  • NM_018418.5:c.1112T>CMANE SELECT
  • NP_001035518.1:p.Ile339Thr
  • NP_060888.2:p.Ile371Thr
  • NC_000014.8:g.88899508T>C
  • NM_018418.4:c.1112T>C
Protein change:
I339T; ILE371THR
Links:
OMIM: 609868.0011; dbSNP: rs150364664
NCBI 1000 Genomes Browser:
rs150364664
Molecular consequence:
  • NM_001040428.4:c.1016T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018418.5:c.1112T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749416GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749416.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 05-22-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Sep 29, 2024