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NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) AND Noonan syndrome-like disorder with loose anagen hair 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 26, 2021
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:
RCV001803094.7

Allele description [Variation Report for NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)]

NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)

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.170C>T (p.Ser57Phe)
HGVS:
  • NC_000010.11:g.110964528C>T
  • NG_028922.1:g.49986C>T
  • NM_001269039.3:c.170C>T
  • NM_001324336.2:c.170C>T
  • NM_001324337.2:c.170C>T
  • NM_007373.4:c.170C>TMANE SELECT
  • NP_001255968.1:p.Ser57Phe
  • NP_001311265.1:p.Ser57Phe
  • NP_001311266.1:p.Ser57Phe
  • NP_031399.2:p.Ser57Phe
  • NP_031399.2:p.Ser57Phe
  • LRG_753t1:c.170C>T
  • LRG_753:g.49986C>T
  • LRG_753p1:p.Ser57Phe
  • NC_000010.10:g.112724286C>T
  • NM_007373.3:c.170C>T
Protein change:
S57F
Links:
dbSNP: rs536611911
NCBI 1000 Genomes Browser:
rs536611911
Molecular consequence:
  • NM_001269039.3:c.170C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324336.2:c.170C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324337.2:c.170C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007373.4:c.170C>T - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002048966ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)		Uncertain significance
(Apr 26, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002048966.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The SHOC2 c.170C>T; p.Ser57Phe variant (rs536611911), to our knowledge, is not reported in the medical literature or gene specific databases. The variant is listed in the ClinVar database (Variation ID: 179760) and is found in the general population with an overall allele frequency of 0.009% (25/281,848 alleles) in the Genome Aggregation Database. The serine at codon 57 is moderately conserved and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.427). Due to limited information, the clinical significance of the p.Ser57Phe variant is uncertain at this time.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024