NM_012309.5(SHANK2):c.4906C>T (p.Arg1636Ter) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Dec 20, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000760886.1

Allele description [Variation Report for NM_012309.5(SHANK2):c.4906C>T (p.Arg1636Ter)]

NM_012309.5(SHANK2):c.4906C>T (p.Arg1636Ter)

Gene:
SHANK2:SH3 and multiple ankyrin repeat domains 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.3
Genomic location:
Preferred name:
NM_012309.5(SHANK2):c.4906C>T (p.Arg1636Ter)
HGVS:
  • NC_000011.10:g.70485387G>A
  • NG_042866.1:g.644410C>T
  • NM_001379226.1:c.3769C>T
  • NM_012309.4:c.4906C>T
  • NM_012309.5:c.4906C>TMANE SELECT
  • NM_133266.5:c.3142C>T
  • NM_133266.5:c.3142C>T
  • NP_001366155.1:p.Arg1257Ter
  • NP_036441.2:p.Arg1636Ter
  • NP_036441.2:p.Arg1636Ter
  • NP_573573.2:p.Arg1048Ter
  • NP_573573.2:p.Arg1048Ter
  • NC_000011.9:g.70331492G>A
  • NM_012309.3:c.4906C>T
Protein change:
R1048*
Links:
dbSNP: rs1565526121
NCBI 1000 Genomes Browser:
rs1565526121
Molecular consequence:
  • NM_001379226.1:c.3769C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_012309.4:c.4906C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_012309.5:c.4906C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133266.5:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000890782GeneDxcriteria provided, single submitter
Likely pathogenic
(Dec 20, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000890782.1

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

Description

The R1636X variant in the SHANK2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1636X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R1636X as a likely pathogenic variant.

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

Last Updated: Oct 25, 2021

Support Center