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NM_006940.6(SOX5):c.1778G>A (p.Arg593His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 25, 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:
RCV001765203.2

Allele description [Variation Report for NM_006940.6(SOX5):c.1778G>A (p.Arg593His)]

NM_006940.6(SOX5):c.1778G>A (p.Arg593His)

Gene:
SOX5:SRY-box transcription factor 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_006940.6(SOX5):c.1778G>A (p.Arg593His)
HGVS:
  • NC_000012.12:g.23536663C>T
  • NG_029612.2:g.1030784G>A
  • NM_001261414.3:c.1415G>A
  • NM_001261415.3:c.1748G>A
  • NM_001330785.2:c.1673G>A
  • NM_006940.6:c.1778G>AMANE SELECT
  • NM_152989.5:c.1739G>A
  • NM_178010.4:c.620G>A
  • NP_001248343.1:p.Arg472His
  • NP_001248344.1:p.Arg583His
  • NP_001317714.1:p.Arg558His
  • NP_008871.3:p.Arg593His
  • NP_694534.1:p.Arg580His
  • NP_821078.1:p.Arg207His
  • NC_000012.11:g.23689597C>T
  • NM_006940.4:c.1778G>A
Protein change:
R207H
Links:
dbSNP: rs1940536576
NCBI 1000 Genomes Browser:
rs1940536576
Molecular consequence:
  • NM_001261414.3:c.1415G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001261415.3:c.1748G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330785.2:c.1673G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006940.6:c.1778G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152989.5:c.1739G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178010.4:c.620G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001991905GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jul 25, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001991905.2

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

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at significant frequency in large population cohorts (Lek et al., 2016)

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

Last Updated: Dec 24, 2023