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NM_006372.5(SYNCRIP):c.1162A>G (p.Met388Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 28, 2024
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:
RCV004773887.1

Allele description [Variation Report for NM_006372.5(SYNCRIP):c.1162A>G (p.Met388Val)]

NM_006372.5(SYNCRIP):c.1162A>G (p.Met388Val)

Gene:
SYNCRIP:synaptotagmin binding cytoplasmic RNA interacting protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q14.3
Genomic location:
Preferred name:
NM_006372.5(SYNCRIP):c.1162A>G (p.Met388Val)
HGVS:
  • NC_000006.12:g.85618936T>C
  • NG_031848.1:g.29390A>G
  • NM_001159673.2:c.868A>G
  • NM_001159674.2:c.1057A>G
  • NM_001159675.1:c.1057A>G
  • NM_001159676.1:c.1162A>G
  • NM_001159677.2:c.1162A>G
  • NM_001253771.2:c.706A>G
  • NM_001410938.1:c.868A>G
  • NM_006372.5:c.1162A>GMANE SELECT
  • NP_001153145.1:p.Met290Val
  • NP_001153146.1:p.Met353Val
  • NP_001153147.1:p.Met353Val
  • NP_001153148.1:p.Met388Val
  • NP_001153149.1:p.Met388Val
  • NP_001240700.1:p.Met236Val
  • NP_001397867.1:p.Met290Val
  • NP_006363.4:p.Met388Val
  • NC_000006.11:g.86328654T>C
  • NM_001159673.1:c.868A>G
Protein change:
M236V
Molecular consequence:
  • NM_001159673.2:c.868A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159674.2:c.1057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159675.1:c.1057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159676.1:c.1162A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159677.2:c.1162A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001253771.2:c.706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410938.1:c.868A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006372.5:c.1162A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005387310GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Feb 28, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV005387310.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene

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

Last Updated: Nov 3, 2024