NM_006939.4(SOS2):c.3490-13_3490-11dup AND Noonan syndrome 9

Clinical significance:Benign (Last evaluated: Aug 31, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001518884.1

Allele description [Variation Report for NM_006939.4(SOS2):c.3490-13_3490-11dup]

NM_006939.4(SOS2):c.3490-13_3490-11dup

Gene:
SOS2:SOS Ras/Rho guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
14q21.3
Genomic location:
Preferred name:
NM_006939.4(SOS2):c.3490-13_3490-11dup
HGVS:
  • NC_000014.9:g.50118864_50118866dup
  • NG_051073.1:g.117835_117837dup
  • NM_006939.4:c.3490-13_3490-11dupMANE SELECT
  • NC_000014.8:g.50585574_50585575insAAA
  • NC_000014.8:g.50585582_50585584dup
Links:
Molecular consequence:
  • NM_006939.4:c.3490-13_3490-11dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Noonan syndrome 9 (NS9)
Identifiers:
MONDO: MONDO:0014691; MedGen: C4225282; Orphanet: 648; OMIM: 616559

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001727659Invitaecriteria provided, single submitter
Benign
(Aug 31, 2020)
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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001727659.1

#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: Jun 19, 2021

Support Center