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NM_031443.4(CCM2):c.30G>C (p.Lys10Asn) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 18, 2019
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:
RCV001773897.2

Allele description [Variation Report for NM_031443.4(CCM2):c.30G>C (p.Lys10Asn)]

NM_031443.4(CCM2):c.30G>C (p.Lys10Asn)

Genes:
LOC129998395:ATAC-STARR-seq lymphoblastoid silent region 18162 [Gene]
CCM2:CCM2 scaffold protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_031443.4(CCM2):c.30G>C (p.Lys10Asn)
HGVS:
  • NC_000007.14:g.45000363G>C
  • NG_016295.1:g.5176G>C
  • NM_001167934.2:c.30G>C
  • NM_001167935.2:c.30G>C
  • NM_001363458.2:c.30G>C
  • NM_001363459.2:c.30G>C
  • NM_031443.4:c.30G>CMANE SELECT
  • NP_001161406.1:p.Lys10Asn
  • NP_001161407.1:p.Lys10Asn
  • NP_001350387.1:p.Lys10Asn
  • NP_001350388.1:p.Lys10Asn
  • NP_113631.1:p.Lys10Asn
  • LRG_664t2:c.30G>C
  • LRG_664:g.5176G>C
  • NC_000007.13:g.45039962G>C
  • NM_031443.3:c.30G>C
Protein change:
K10N
Links:
dbSNP: rs1583819255
NCBI 1000 Genomes Browser:
rs1583819255
Molecular consequence:
  • NM_001167934.2:c.30G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167935.2:c.30G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363458.2:c.30G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363459.2:c.30G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031443.4:c.30G>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
SCV001992115GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Apr 18, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001992115.2

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

Description

Not observed in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Dec 24, 2023