NM_001554.5(CCN1):c.891G>C (p.Arg297Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 6, 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:
RCV004291301.1

Allele description [Variation Report for NM_001554.5(CCN1):c.891G>C (p.Arg297Ser)]

NM_001554.5(CCN1):c.891G>C (p.Arg297Ser)

Gene:
CCN1:cellular communication network factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p22.3
Genomic location:
Preferred name:
NM_001554.5(CCN1):c.891G>C (p.Arg297Ser)
HGVS:
  • NC_000001.11:g.85582787G>C
  • NM_001554.5:c.891G>CMANE SELECT
  • NP_001545.2:p.Arg297Ser
  • NC_000001.10:g.86048470G>C
  • NM_001554.4:c.891G>C
Protein change:
R297S
Molecular consequence:
  • NM_001554.5:c.891G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003939736Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 6, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003939736.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.891G>C (p.R297S) alteration is located in exon 5 (coding exon 5) of the CYR61 gene. This alteration results from a G to C substitution at nucleotide position 891, causing the arginine (R) at amino acid position 297 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024