NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
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:: RCV003330311.3

Allele description [Variation Report for NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)]

NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.2

Genomic location:

Preferred name:

NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)

Other names:

p.S2G:AGT>GGT; NM_007373.3(SHOC2):c.4A>G

HGVS:

NC_000010.11:g.110964362A>G
NG_028922.1:g.49820A>G
NM_001269039.3:c.4A>G
NM_001324336.2:c.4A>G
NM_001324337.2:c.4A>G
NM_007373.4:c.4A>GMANE SELECT
NP_001255968.1:p.Ser2Gly
NP_001311265.1:p.Ser2Gly
NP_001311266.1:p.Ser2Gly
NP_001311266.1:p.Ser2Gly
NP_031399.2:p.Ser2Gly
NP_031399.2:p.Ser2Gly
LRG_753t1:c.4A>G
LRG_753:g.49820A>G
LRG_753p1:p.Ser2Gly
NC_000010.10:g.112724120A>G
NM_001269039.1:c.4A>G
NM_001269039.2:c.4A>G
NM_001324337.1:c.4A>G
NM_007373.3:c.4A>G
Q9UQ13:p.Ser2Gly
c.4A>G

Protein change:

S2G; SER2GLY

Links:

UniProtKB: Q9UQ13#VAR_060199; OMIM: 602775.0001; dbSNP: rs267607048

NCBI 1000 Genomes Browser:

rs267607048

Molecular consequence:

NM_001269039.3:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001324336.2:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001324337.2:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007373.4:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pectus excavatum
Synonyms:: funnel chest
Identifiers:: MONDO: MONDO:0008213; MedGen: C2051831; OMIM: 169300; Human Phenotype Ontology: HP:0000767

Name:: Noonan syndrome-like disorder with loose anagen hair 1 (NSLH1)
Synonyms:: TOSTI SYNDROME; MAZZANTI SYNDROME
Identifiers:: MONDO: MONDO:0054637; MedGen: C4478716; Orphanet: 2701; OMIM: 607721

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004037443	Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004037443

Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

germline

not provided

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	not provided

Citations

PubMed

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 Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, SCV004037443.1

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

#	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

Last Updated: Nov 24, 2024

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