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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000299199	CHU Sainte-Justine Research Center, University of Montreal	no assertion criteria provided	Uncertain significance (Aug 12, 2016)	de novo	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000299199

CHU Sainte-Justine Research Center, University of Montreal

no assertion criteria provided

Uncertain significance
(Aug 12, 2016)

de novo

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 25, 2024

ClinVar

Relating variation to medicine