NM_006939.4(SOS2):c.346-10C>G AND Noonan syndrome 9

Germline classification:: Benign (2 submissions)
Last evaluated:: Jan 8, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000876894.9

Allele description [Variation Report for NM_006939.4(SOS2):c.346-10C>G]

NM_006939.4(SOS2):c.346-10C>G

Gene:

SOS2:SOS Ras/Rho guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q21.3

Genomic location:

Preferred name:

NM_006939.4(SOS2):c.346-10C>G

HGVS:

NC_000014.9:g.50199865G>C
NG_051073.1:g.36829C>G
NM_006939.4:c.346-10C>GMANE SELECT
NC_000014.8:g.50666583G>C
NM_006939.2:c.346-10C>G
NM_006939.3:c.346-10C>G

Links:

dbSNP: rs146395803

NCBI 1000 Genomes Browser:

rs146395803

Molecular consequence:

NM_006939.4:c.346-10C>G - 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

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PREDICTED: Kryptolebias marmoratus dnaJ homolog subfamily B member 6-like (LOC10...
PREDICTED: Kryptolebias marmoratus dnaJ homolog subfamily B member 6-like (LOC108250515), transcript variant X1, mRNA
gi|1938248508|ref|XM_017440428.3|

Nucleotide
hypothetical protein FOB45_27880 (plasmid) [Pseudomonas luteola]
hypothetical protein FOB45_27880 (plasmid) [Pseudomonas luteola]
gi|1751086623|gnl|PRJNA231221|FOB45 0|gb|QEU31574.1|

Protein
hypothetical protein I6I79_00220 (plasmid) [Enterococcus casseliflavus]
hypothetical protein I6I79_00220 (plasmid) [Enterococcus casseliflavus]
gi|1958320696|gnl|PRJNA231221|I6I79 0|gb|QQU14926.1|

Protein
Uncultured bacterium clone Ca_040035_1472_0521 16S ribosomal RNA gene, partial s...
Uncultured bacterium clone Ca_040035_1472_0521 16S ribosomal RNA gene, partial sequence
gi|151959065|gb|EF320587.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001019530	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 8, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002763142	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001019530

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 8, 2024)

germline

clinical testing

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

SCV002763142

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

clinical testing

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

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

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001019530.5

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

#	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

From Genome-Nilou Lab, SCV002763142.1

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

#	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: Sep 29, 2024

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