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NM_000587.4(C7):c.881_882del (p.Arg294fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 18, 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:
RCV003580838.2

Allele description [Variation Report for NM_000587.4(C7):c.881_882del (p.Arg294fs)]

NM_000587.4(C7):c.881_882del (p.Arg294fs)

Gene:
C7:complement C7 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5p13.1
Genomic location:
Preferred name:
NM_000587.4(C7):c.881_882del (p.Arg294fs)
HGVS:
  • NC_000005.10:g.40947744_40947745del
  • NG_011692.1:g.43248_43249del
  • NM_000587.4:c.881_882delMANE SELECT
  • NP_000578.2:p.Arg294Ilefs
  • NP_000578.2:p.Arg294fs
  • LRG_30t1:c.881_882del
  • LRG_30:g.43248_43249del
  • LRG_30p1:p.Arg294Ilefs
  • NC_000005.9:g.40947845_40947846del
  • NC_000005.9:g.40947846_40947847del
  • NM_000587.2:c.881_882delGA
Protein change:
R294fs
Molecular consequence:
  • NM_000587.4:c.881_882del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004337529Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 18, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.

Fernie BA, Hobart MJ.

Hum Genet. 1998 Oct;103(4):513-9.

PubMed [citation]
PMID:
9856499

Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited.

Rameix-Welti MA, Régnier CH, Bienaimé F, Blouin J, Schifferli J, Fridman WH, Sautès-Fridman C, Frémeaux-Bacchi V.

Eur J Immunol. 2007 May;37(5):1377-85.

PubMed [citation]
PMID:
17407100
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004337529.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Arg294Ilefs*34) in the C7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in C7 are known to be pathogenic (PMID: 9856499, 17407100). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with C7-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024