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NM_000587.4(C7):c.*96TCT[1] AND Complement component 7 deficiency

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV003226888.3

Allele description [Variation Report for NM_000587.4(C7):c.*96TCT[1]]

NM_000587.4(C7):c.*96TCT[1]

Gene:
C7:complement C7 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
5p13.1
Genomic location:
Preferred name:
NM_000587.4(C7):c.*96TCT[1]
HGVS:
  • NC_000005.10:g.40981669TCT[1]
  • NG_011692.1:g.77173TCT[1]
  • NM_000587.4:c.*96TCT[1]MANE SELECT
  • NM_000587.4:c.*99_*101delTCT
  • LRG_30t1:c.*96_*98TCT[1]
  • LRG_30:g.77173TCT[1]
  • NC_000005.9:g.40981771TCT[1]
  • NM_000587.2:c.*96_*98TCT[1]
  • NM_000587.4:c.*99_*101delMANE SELECT
  • NM_000587.4:c.*99_*101delTCTMANE SELECT
Molecular consequence:
  • NM_000587.4:c.*96TCT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Complement component 7 deficiency (C7D)
Synonyms:
C7 DEFICIENCY
Identifiers:
MONDO: MONDO:0012412; MedGen: C1864694; OMIM: 610102

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003920905Pio d'adamo Lab, University Of Trieste
no assertion criteria provided
Likely pathogenicgermlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Pio d'adamo Lab, University Of Trieste, SCV003920905.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 18, 2024