NM_001737.5(C9):c.346C>T (p.Arg116Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 2, 2024
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:: RCV001851916.4

Allele description [Variation Report for NM_001737.5(C9):c.346C>T (p.Arg116Ter)]

NM_001737.5(C9):c.346C>T (p.Arg116Ter)

Gene:

C9:complement C9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.1

Genomic location:

Preferred name:

NM_001737.5(C9):c.346C>T (p.Arg116Ter)

Other names:

C9, ARG95TER; R95*

HGVS:

NC_000005.10:g.39341276G>A
NG_009894.1:g.28278C>T
NM_001737.5:c.346C>TMANE SELECT
NP_001728.1:p.Arg116Ter
LRG_32t1:c.346C>T
LRG_32:g.28278C>T
LRG_32p1:p.Arg116Ter
NC_000005.9:g.39341378G>A
NM_001737.3:c.346C>T

Protein change:

R116*; ARG95TER

Links:

OMIM: 120940.0001; dbSNP: rs121909592

NCBI 1000 Genomes Browser:

rs121909592

Molecular consequence:

NM_001737.5:c.346C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002228932	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 2, 2024)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 9144525, 9570574, 9703418, 12596049, 22190594, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002228932

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 2, 2024)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure.

Witzel-Schlömp K, Späth PJ, Hobart MJ, Fernie BA, Rittner C, Kaufmann T, Schneider PM.

J Immunol. 1997 May 15;158(10):5043-9.

PubMed [citation]

PMID:: 9144525

A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese.

Horiuchi T, Nishizaka H, Kojima T, Sawabe T, Niho Y, Schneider PM, Inaba S, Sakai K, Hayashi K, Hashimura C, Fukumori Y.

J Immunol. 1998 Feb 1;160(3):1509-13.

PubMed [citation]

PMID:: 9570574

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002228932.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Arg116*) in the C9 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in C9 are known to be pathogenic (PMID: 9144525, 9570574). This variant is present in population databases (rs121909592, gnomAD 1.0%), and has an allele count higher than expected for a pathogenic variant. This premature translational stop signal has been observed in individuals with complement component 9 (C9) deficiency (PMID: 9570574, 9703418, 12596049, 22190594). It is commonly reported in individuals of East Asian ancestry (PMID: 9570574, 9703418, 12596049, 22190594). This variant is also known as Arg95*. ClinVar contains an entry for this variant (Variation ID: 17040). For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 26, 2025

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