Click here to see the new Variation Report design!

NM_003632.2(CNTNAP1):c.1163G>C (p.Arg388Pro)

Variation ID: Help
522842
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely pathogenic
Last evaluated:
Mar 26, 2017
Number of submission(s):
2
Condition(s):
  • Lethal congenital contracture syndrome 7 [MedGen - OMIM]
  • Congenital hypomyelinating neuropathy 3 [MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_003632.2(CNTNAP1):c.1163G>C (p.Arg388Pro)

Allele ID:
513467
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
  • Chr17: 42687838 (on Assembly GRCh38)
  • Chr17: 40839856 (on Assembly GRCh37)
Protein change:
R388P
HGVS:
  • NG_042091.1:g.10225G>C
  • NM_003632.2:c.1163G>C
  • NP_003623.1:p.Arg388Pro
  • NC_000017.11:g.42687838G>C (GRCh38)
  • NC_000017.10:g.40839856G>C (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs779027563
Molecular consequence:
NM_003632.2:c.1163G>C: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00001
  • The Genome Aggregation Database (gnomAD), exomes 0.00000

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Likely pathogenic
(Mar 26, 2017)
criteria provided, single submitter
clinical testing
  • Lethal congenital contracture syndrome 7 (Autosomal recessive inheritance)[MedGen | OMIM]
inheritedUndiagnosed Diseases Network,NIH - Undiagnosed Diseases Network (NIH), UDNSCV000746623.1
Pathogenic
(Nov 27, 2018)
no assertion criteria providedliterature only
  • Congenital hypomyelinating neuropathy 3[MedGen | OMIM]
germlineOMIMSCV000853285.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot provided1germline, inheritedGuatemalannot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
Undiagnosed Diseases Network,NIHnot provided1inheritedGuatemalannot providedA recent study reported this c…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

Support Center