NM_002448.3(MSX1):c.458C>A (p.Pro153Gln)

Variation ID: Help
14885
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jan 1, 2006
Number of submission(s):
1
Condition(s):
Orofacial cleft 5[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_002448.3(MSX1):c.458C>A (p.Pro153Gln)

Allele ID:
29924
Variant type:
single nucleotide variant
Cytogenetic location:
4p16
Genomic location:
  • Chr4: 4860357 (on Assembly GRCh38)
  • Chr4: 4862084 (on Assembly GRCh37)
Protein change:
P147Q, P153Q
HGVS:
  • NG_008121.1:g.5693C>A
  • NM_002448.3:c.458C>A
  • NP_002439.2:p.Pro153Gln
  • NC_000004.12:g.4860357C>A (GRCh38)
  • NC_000004.11:g.4862084C>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs104893854
Molecular consequence:
NM_002448.3:c.458C>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GMAF 0.00100 (A)
  • ExAC 0.00013 (A)

Variant frequency in dbGaP Help

NM_002448.3(MSX1):c.458C>A (p.Pro153Gln)

GRCh37 Chr4:4862084
Called variantsPotential variants
Sample countno data3 of 29535

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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
Pathogenic
(Jan 1, 2006)
no assertion criteria providedliterature onlygermlineOMIMSCV000036281.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 15, 2017