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NM_007373.4(SHOC2):c.157G>A (p.Gly53Arg) AND Noonan syndrome-like disorder with loose anagen hair 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 5, 2022
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:
RCV002272501.1

Allele description [Variation Report for NM_007373.4(SHOC2):c.157G>A (p.Gly53Arg)]

NM_007373.4(SHOC2):c.157G>A (p.Gly53Arg)

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.157G>A (p.Gly53Arg)
HGVS:
  • NC_000010.11:g.110964515G>A
  • NG_028922.1:g.49973G>A
  • NM_001269039.3:c.157G>A
  • NM_001324336.2:c.157G>A
  • NM_001324337.2:c.157G>A
  • NM_007373.4:c.157G>AMANE SELECT
  • NP_001255968.1:p.Gly53Arg
  • NP_001311265.1:p.Gly53Arg
  • NP_001311266.1:p.Gly53Arg
  • NP_031399.2:p.Gly53Arg
  • LRG_753t1:c.157G>A
  • LRG_753:g.49973G>A
  • NC_000010.10:g.112724273G>A
  • NM_007373.3:c.157G>A
Protein change:
G53R
Links:
dbSNP: rs2134121169
NCBI 1000 Genomes Browser:
rs2134121169
Molecular consequence:
  • NM_001269039.3:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324336.2:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324337.2:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007373.4:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002073494Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 5, 2022) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

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 Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital, SCV002073494.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024