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NM_005188.4(CBL):c.107ACC[8] (p.His42dup) AND RASopathy

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 1, 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:
RCV001080766.8

Allele description [Variation Report for NM_005188.4(CBL):c.107ACC[8] (p.His42dup)]

NM_005188.4(CBL):c.107ACC[8] (p.His42dup)

Genes:
LOC130006895:ATAC-STARR-seq lymphoblastoid silent region 3975 [Gene]
CBL:Cbl proto-oncogene [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_005188.4(CBL):c.107ACC[8] (p.His42dup)
Other names:
p.His42_Leu43insHis
HGVS:
  • NC_000011.10:g.119206524ACC[8]
  • NG_016808.1:g.5245ACC[8]
  • NM_005188.4:c.107ACC[8]MANE SELECT
  • NP_005179.2:p.His42dup
  • LRG_608:g.5245ACC[8]
  • NC_000011.9:g.119077232_119077233insCAC
  • NC_000011.9:g.119077234ACC[8]
  • NM_005188.2:c.125_127dupACC
  • NM_005188.2:c.127_128insACC
  • NM_005188.3:c.125_127dupACC
  • NM_005188.4:c.125_127dupMANE SELECT
  • c.127_128insACC
  • p.H42dup
Links:
dbSNP: rs373212940
NCBI 1000 Genomes Browser:
rs373212940
Molecular consequence:
  • NM_005188.4:c.107ACC[8] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
RASopathy
Synonyms:
rasopathies; Noonan spectrum disorder
Identifiers:
MONDO: MONDO:0021060; MedGen: C5555857

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000288829Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Benign
(Feb 1, 2024)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000288829.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024