U.S. flag

An official website of the United States government

NM_020719.3(PRR12):c.903_909dup (p.Pro304fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 15, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000627685.2

Allele description [Variation Report for NM_020719.3(PRR12):c.903_909dup (p.Pro304fs)]

NM_020719.3(PRR12):c.903_909dup (p.Pro304fs)

Gene:
PRR12:proline rich 12 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_020719.3(PRR12):c.903_909dup (p.Pro304fs)
HGVS:
  • NC_000019.10:g.49595238_49595244dup
  • NG_051202.1:g.9062_9068dup
  • NM_020719.3:c.903_909dupMANE SELECT
  • NP_065770.1:p.Pro304fs
  • NC_000019.9:g.50098495_50098501dup
  • NM_020719.2:c.899_900insCCCACCA
Protein change:
P304fs
Links:
dbSNP: rs1555740394
NCBI 1000 Genomes Browser:
rs1555740394
Molecular consequence:
  • NM_020719.3:c.903_909dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Autism (AUTS)
Synonyms:
Autistic disorder; Autistic disorder of childhood onset
Identifiers:
MONDO: MONDO:0005260; MeSH: D001321; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717
Name:
Motor delay
Synonyms:
Motor retardation; motor developmental delay
Identifiers:
MedGen: C1854301; Human Phenotype Ontology: HP:0001270
Name:
Iris coloboma
Synonyms:
Coloboma of iris
Identifiers:
MONDO: MONDO:0020356; MedGen: C0240063; Human Phenotype Ontology: HP:0000612
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Abnormality of vision
Identifiers:
MedGen: C4025846; Human Phenotype Ontology: HP:0000504

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000611570Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 15, 2017) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics, SCV000611570.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing
(GTR000508680.4)		 PubMed (1)

Description

This variant was seen once in our laboratory de novo in a 6.6-year-old male with bilateral inferior iris coloboma, myopia, exotropia, vision loss, delayed motor milestones, delayed speech, attention deficit hyperactivity disorder, anxiety, possible hypertonia, brisk reflexes, microcephaly, dysmorphic features, patent foramen ovale, central obstructive sleep apnea, tibial torsion, pes planus, joint laxity, easy bruising, eczema and a history of umbilical hernia and ankyloglossia.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided
(GTR000508680.4)		1not providednot providednot provided

Last Updated: Jun 9, 2024