NM_007373.4(SHOC2):c.973-5del AND RASopathy

Germline classification:: Benign (2 submissions)
Last evaluated:: Jan 28, 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:: RCV000159104.6

Allele description [Variation Report for NM_007373.4(SHOC2):c.973-5del]

NM_007373.4(SHOC2):c.973-5del

Gene:

SHOC2:SHOC2 leucine rich repeat scaffold protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q25.2

Genomic location:

Preferred name:

NM_007373.4(SHOC2):c.973-5del

HGVS:

NC_000010.11:g.111004601del
NG_028922.1:g.90059del
NM_001269039.3:c.835-5del
NM_001324336.2:c.973-5del
NM_001324337.2:c.973-5del
NM_007373.4:c.973-5delMANE SELECT
LRG_753t1:c.973-5del
LRG_753:g.90059del
NC_000010.10:g.112764352del
NC_000010.10:g.112764359del
NM_007373.3:c.973-5del
NM_007373.3:c.973-5delT

Links:

dbSNP: rs730881016

NCBI 1000 Genomes Browser:

rs730881016

Molecular consequence:

NM_001269039.3:c.835-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001324336.2:c.973-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001324337.2:c.973-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_007373.4:c.973-5del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000209047	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Sep 23, 2014)	germline	clinical testing	Citation Link,
SCV002398101	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 28, 2024)	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

SCV000209047

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Sep 23, 2014)

germline

clinical testing

Citation Link,

SCV002398101

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 28, 2024)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
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):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From GeneDx, SCV000209047.2

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

Description

The variant is found in NOONAN panel(s).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Invitae, SCV002398101.3

#	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: May 1, 2024

ClinVar

Relating variation to medicine