U.S. flag

An official website of the United States government

NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu) AND Oromandibular-limb hypogenesis spectrum

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000240033.1

Allele description [Variation Report for NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu)]

NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu)

Gene:
NPIPA5:nuclear pore complex interacting protein family member A5 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.11
Genomic location:
Preferred name:
NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu)
HGVS:
  • NC_000016.10:g.15363750G>A
  • NG_054723.1:g.22729C>T
  • NM_001277325.2:c.962C>TMANE SELECT
  • NM_001351200.1:c.*333C>T
  • NP_001264254.1:p.Pro321Leu
  • NC_000016.9:g.15457607G>A
  • NM_001277325.1:c.962C>T
Protein change:
P321L
Links:
dbSNP: rs886037884
NCBI 1000 Genomes Browser:
rs886037884
Molecular consequence:
  • NM_001351200.1:c.*333C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001277325.2:c.962C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Oromandibular-limb hypogenesis spectrum (MBS)
Synonyms:
Absence or underdevelopment of the 6th and 7th cranial nerves; Congenital facial diplegia syndrome; Congenital oculofacial paralysis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008006; MedGen: C0221060; Orphanet: 570; OMIM: 157900

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
SCV000299199CHU Sainte-Justine Research Center, University of Montreal
no assertion criteria provided
Uncertain significance
(Aug 12, 2016)
de novoresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From CHU Sainte-Justine Research Center, University of Montreal, SCV000299199.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 25, 2024